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Gene: Foxp3 MGI:1891436

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

forkhead box P3

Synonyms:

scurfin, JM2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Foxp3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Foxp3 (2 diseases)
Human diseases predicted to be associated with Foxp3 (4467 diseases)

The table below shows human diseases associated to Foxp3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked		Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c...	OMIM:304790
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome		Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042

The table below shows human diseases predicted to be associated to Foxp3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Acne Inversa, Familial, 3	Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation	OMIM:613737
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Immunodeficiency With Defective T-Cell Response To Interleukin 1	Recurrent otitis media, Recurrent pneumonia	OMIM:243110
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen...	ORPHA:444463
Acne Inversa, Familial, 1	Acne inversa	OMIM:142690
Chilblain Lupus 2	Chilblains	OMIM:614415
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ...	OMIM:618944
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus	OMIM:613783
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Abnormal B cell count, Hepatomegaly, Decreased ly...	ORPHA:331206
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu...	OMIM:617638
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne...	OMIM:619281
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko...	OMIM:267500
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen...	OMIM:618982
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func...	OMIM:240500
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ...	OMIM:607594
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom...	OMIM:614470
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn...	OMIM:212050
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymp...	OMIM:618935
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Immunodeficiency 25	Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif...	OMIM:610163
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco...	ORPHA:911
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytos...	OMIM:616871
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Diffuse Gastric And Lobular Breast Cancer Syndrome	Atrophic gastritis, Stomach cancer, Cleft palate	OMIM:137215
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,...	OMIM:300400
Peeling Skin Syndrome 5	Epidermal acanthosis, Scaling skin	OMIM:617115
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Absen...	ORPHA:277
Isochromosomy Yq	Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar...	ORPHA:98798
Acral Self-Healing Collodion Baby	Erythema, Palmoplantar scaling skin, Lack of skin elasticity	ORPHA:281127
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Incr...	OMIM:615767
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody...	ORPHA:3361
Ledderhose Disease	Lack of skin elasticity	ORPHA:199251
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit...	OMIM:608971
Lupus Erythematosus Tumidus	Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm...	ORPHA:90283
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Centrifugal Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Lymphadenitis, Scaling skin	ORPHA:90156
Immunodeficiency 32B	Hypoalbuminemia, Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegal...	OMIM:226990
Immunodeficiency 68	Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ...	OMIM:612260
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammagl...	OMIM:601457
Testes, Rudimentary	Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism	OMIM:273150
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Pruritic Urticarial Papules And Plaques Of Pregnancy	Striae distensae	OMIM:178995
Striae Distensae, Familial	Striae distensae	OMIM:185200
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Familial Reactive Perforating Collagenosis	Abnormal epidermal morphology, Inflammatory abnormality of the skin, Maculopapular exanthema, Cru...	ORPHA:79147
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph...	ORPHA:169154
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
Tooth Agenesis, Selective, 8	Dry skin, Sparse eyebrow, Sparse hair	OMIM:617073
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc...	OMIM:615285
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis	OMIM:614379
Immunodeficiency 27A	Pneumonia, Hypoalbuminemia, Diarrhea, Increased circulating IgG level, Anorexia, Hepatosplenomega...	OMIM:209950
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit...	ORPHA:169160
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Absent pubi...	ORPHA:2269
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni...	OMIM:603909
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,...	OMIM:617514
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased C...	OMIM:607271
Generalized Eruptive Histiocytosis	Hypereosinophilia, Maculopapular exanthema, Leukemia, Pruritus, Histiocytosis	ORPHA:157991
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Decreased proportion of CD8-positive T ce...	OMIM:617241
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal...	OMIM:616622
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Erythroderma, Scaling skin	OMIM:113800
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane...	OMIM:601859
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,...	OMIM:620603
Immunodeficiency 53	Recurrent otitis media, Recurrent upper respiratory tract infections, Skin rash, Recurrent pneumonia	OMIM:617585
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N...	OMIM:619220
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p...	ORPHA:331235
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Peeling Skin Syndrome 3	Abnormal hair morphology, Erythema, White scaling skin	OMIM:616265
Immunodeficiency 46	Failure to thrive, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Ane...	OMIM:616740
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections	ORPHA:345
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Recu...	OMIM:613101
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor...	ORPHA:90039
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Dilate...	ORPHA:398124
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro...	ORPHA:98813
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased alpha-globulin, Increased circulating antibody level	OMIM:235900
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop...	ORPHA:217390
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Pruritus...	ORPHA:37748
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Anti-Ro/SS-A antibody positivity, Anti-dsDNA antibody positivity, Malar rash,...	ORPHA:163525
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i...	OMIM:201810
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hepat...	ORPHA:100075
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocut...	OMIM:618282
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph...	OMIM:617006
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Recurrent viral pneumonia, Increased circulating I...	OMIM:619773
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic...	OMIM:615631
Verrucous Hemangioma	Epidermal acanthosis, Inflammatory abnormality of the skin	ORPHA:464318
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Pulmonary hemorrhage, Neutrophilia, ...	OMIM:619644
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr...	OMIM:620532
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Autoimmune antibody pos...	ORPHA:60026
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Ski...	OMIM:603552
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c...	OMIM:304790
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells...	OMIM:619126
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia, Neonatal death	OMIM:257100
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Diarrhea, Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoi...	OMIM:618495
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell...	OMIM:618806
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Diffuse Cutaneous Mastocytosis	Thickened skin, Diarrhea, Abnormality of the spleen, Erythroderma, Hepatomegaly, Abdominal pain, ...	ORPHA:79456
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus	OMIM:613791
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231226
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c...	OMIM:614493
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Sparse eyebrow, Hepatic failure, Orthokeratosis, Cholestasis, Dry skin, Portal ...	OMIM:607626
X-Linked Agammaglobulinemia	Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Failure to thrive, Osteomyelitis, Autoi...	ORPHA:47
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino...	OMIM:618523
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d...	OMIM:619752
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form...	ORPHA:499
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Autoimmunity, Recurrent bronchitis, Arthritis	OMIM:216950
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell co...	OMIM:269840
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegaly, Mediastinal lymp...	ORPHA:158029
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia	OMIM:300988
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytope...	OMIM:619164
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Arthritis	ORPHA:2582
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa...	OMIM:606367
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling skin, Scaling skin	ORPHA:530838
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, I...	OMIM:615513
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Anorexia...	ORPHA:824
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Monocytos...	ORPHA:2688
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Hearing impairment, Failure to thrive, Recurrent otitis media, ...	ORPHA:397596
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Abnormal bleeding, Lymphopenia, Leuko...	ORPHA:319218
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Anonychia With Flexural Pigmentation	Dry skin, Anonychia	OMIM:106750
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Young Syndrome	Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Bronchiectasis, Rec...	OMIM:279000
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Sézary Syndrome	Palmoplantar keratoderma, Ectropion, Dry skin, Abnormal lymphocyte morphology, Abnormal pleura mo...	ORPHA:3162
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Sensorineural hearing impairment, Erythroderma, Neutropenia, Reduced natural ki...	ORPHA:540
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233710
Ichthyosis Vulgaris	Dry skin, Absent keratohyalin granules	OMIM:146700
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Melena, Elevated circulating hepatic transaminase concentration, Increased mea...	ORPHA:98870
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepa...	OMIM:308230
Omenn Syndrome	Pneumonia, Thickened skin, Edema, Failure to thrive, Dry skin, Abnormal lymphocyte morphology, Le...	ORPHA:39041
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease...	OMIM:618394
Poikiloderma With Neutropenia	Recurrent pneumonia, Sparse eyebrow, Palmoplantar keratoderma, Sparse lateral eyebrow, Increased ...	OMIM:604173
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Immunodeficiency 15A	Decreased proportion of memory B cells, Acne inversa, Chronic mucocutaneous candidiasis, Cutaneou...	OMIM:618204
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Pruritus, Erythroderma	OMIM:270300
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Elevated circulating C-reactive protei...	OMIM:607115
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon...	OMIM:614840
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated circulating hepatic transaminase concentration, Growth delay, Failure to thrive, Hypertr...	OMIM:613561
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
C1Q Deficiency 3	Discoid lupus rash, Antinuclear antibody positivity	OMIM:620322
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Eczemat...	OMIM:620565
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Agammaglobulinemia, Epica...	ORPHA:33110
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ...	ORPHA:482
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Abnormal...	ORPHA:248
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulati...	OMIM:615952
Classic Mycosis Fungoides	Erythema, Eczematoid dermatitis, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, Splenomega...	ORPHA:2584
Eosinophilic Gastroenteritis	Hypoalbuminemia, Allergic rhinitis, Atopic dermatitis, Protein-losing enteropathy, Hematochezia, ...	ORPHA:2070
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut...	OMIM:243700
Acral Peeling Skin Syndrome	Erythema, Excessive wrinkling of palmar skin, Eczematoid dermatitis, Scaling skin	ORPHA:263534
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG	OMIM:613495
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges...	ORPHA:231222
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro...	OMIM:613021
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Diarrhea, Hearing impairment, Ascites, F...	ORPHA:858
Pemphigus Foliaceus	Erythema, Psoriasiform dermatitis, Autoimmunity, Crusting erythematous dermatitis, Pustule, Skin ...	ORPHA:79481
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Panhypogammaglobulinemia, Increa...	OMIM:602450
Chronic Actinic Dermatitis	Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Epidermal a...	ORPHA:330064
Caroli Syndrome	Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He...	ORPHA:480520
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Pruritus, Cholestasis, Predominantly der...	ORPHA:293173
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Cryptorchidism, Unilateral Or Bilateral	Unilateral cryptorchidism, Cryptorchidism	OMIM:219050
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s...	ORPHA:753
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Dermoodontodysplasia	Nail dysplasia, Trichodysplasia, Dry skin	OMIM:125640
Cone-Rod Dystrophy 1	Hypogonadism	OMIM:600624
Immunodeficiency 88	Eosinophilia	OMIM:619630
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema	OMIM:212360
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Pa...	OMIM:615234
Combined Immunodeficiency, X-Linked	Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport...	OMIM:312863
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Elevated haptoglobin lev...	OMIM:620632
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis, Arthritis	ORPHA:139436
Idiopathic Localized Lipodystrophy	Pruritus, Scaling skin, Inflammatory abnormality of the skin, Erythema	ORPHA:90158
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis	OMIM:211400
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Freckled genitalia, Diarrhe...	ORPHA:79076
Hypocomplementemic Urticarial Vasculitis	Diarrhea, Angioedema, Nausea and vomiting, Sensorineural hearing impairment, Hematuria, Inflammat...	ORPHA:36412
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Huriez Syndrome	Dry skin, Lack of skin elasticity	ORPHA:384
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Abnormality ...	ORPHA:2902
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Cardiomyopathy, Anorexia, Respiratory distress, Nausea and vomiting, Splenomeg...	ORPHA:79312
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopeni...	ORPHA:507
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Weight loss, Anorexia, Hepat...	ORPHA:781
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Protracted diarrhea, Weight loss, Anorexia, Hepatomegaly, Abdominal pa...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Protracted diarrhea, Weight loss, Anorexia, Hepatomegaly, Abdominal pa...	ORPHA:100082
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231214
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Hematuria, Ery...	ORPHA:99827
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ...	OMIM:256500
Ichthyosis Hystrix, Curth-Macklin Type	Scaling skin	OMIM:146590
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu...	OMIM:614420
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal...	ORPHA:276
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th...	OMIM:102700
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Acute ...	ORPHA:572
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut...	OMIM:301082
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin rash, Pustule, Myoca...	ORPHA:31205
Ige Responsiveness, Atopic	Allergic rhinitis, Increased circulating IgE level, Eczematoid dermatitis	OMIM:147050
Dyskeratosis Congenita	Periodontitis, Hearing impairment, Premature graying of hair, Displacement of the urethral meatus...	ORPHA:1775
Hypereosinophilic Syndrome, Idiopathic	Pruritus, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis	OMIM:619398
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Diarrhea, Cervical lymphadenopathy, Leuk...	ORPHA:83313
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Dry skin, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Puncta...	OMIM:617388
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Neutrophilic infiltration...	OMIM:618048
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Granu...	OMIM:306400
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count	OMIM:131430
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr...	OMIM:619693
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology...	ORPHA:85450
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Cutaneous abscess	OMIM:619986
Reticular Dysgenesis	Diarrhea, Aplasia/Hypoplasia of the thymus, Hearing impairment, Recurrent respiratory infections,...	ORPHA:33355
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa...	OMIM:617443
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis	OMIM:260910
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Hypotension, Lack of bowel sounds, Right ventricular failure, Melena, ...	ORPHA:100080
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Lymphopenia, Weight loss, Abdominal pain, Hypoproteinemia, Ascites, Pleural ...	ORPHA:90362
Graft Versus Host Disease	Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru...	ORPHA:39812
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Recurrent ...	ORPHA:486
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Bronchitis, Hepatitis, Emphysema, Cholestasis, Cirrhosis, Perinuclear antineutro...	ORPHA:60
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Rheumatoid factor positive, Skin ulcer,...	ORPHA:90280
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Poems Syndrome	Thickened skin, Increased circulating prolactin concentration, Increased circulating antibody lev...	ORPHA:2905
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Dry skin, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair	OMIM:129490
Hypotrichosis Simplex Of The Scalp	Sparse scalp hair, Fine hair, Alopecia of scalp, Scaling skin, Epidermal acanthosis, Slow-growing...	ORPHA:90368
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Keratosis Palmoplantaris Striata Ii	Abnormal hair morphology, Epidermal acanthosis, Abnormality of the nail	OMIM:612908
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Adult-Onset Still Disease	Erythema, Weight loss, Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concen...	ORPHA:829
Psoriasis 2	Epidermal acanthosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Beta-Thalassemia	Cholelithiasis, Hepatitis, Skin ulcer, Microcytic anemia, Hypertrophic cardiomyopathy, Pallor, Sp...	ORPHA:848
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
8Q22.1 Microdeletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Hypogonadism, Telecanthus, Cryptorchidism, Sparse eyelashe...	ORPHA:178303
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:613494
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous...	ORPHA:853
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otiti...	OMIM:613502
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurr...	OMIM:616576
Waldenström Macroglobulinemia	Diarrhea, Hearing impairment, Cutis marmorata, Anorexia, Periorbital edema, Hepatomegaly, Leukemi...	ORPHA:33226
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl...	ORPHA:79301
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Scal...	OMIM:604536
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia	OMIM:300299
Isolated Agammaglobulinemia	Pneumonia, Abnormality of neutrophils, Skin ulcer, Abnormal lymphocyte morphology, Autoimmunity, ...	ORPHA:229717
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif...	OMIM:618108
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hearing impairment, Persistence of hemoglobin F, Pancytopenia, Cryptorchidism, E...	OMIM:617052
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage...	OMIM:276700
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Pediatric Systemic Lupus Erythematosus	Diarrhea, Microangiopathic hemolytic anemia, Lymphopenia, Dark urine, Hematuria, Decreased circul...	ORPHA:93552
Follicular Lymphoma	Lymphedema, Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum mor...	ORPHA:545
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Peeling Skin Syndrome 6	Atopic dermatitis, Scaling skin, Pruritus, Dry skin	OMIM:618084
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Scaling skin	OMIM:617571
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Erythroderma	OMIM:615022
Desmoplastic Small Round Cell Tumor	Abdominal distention, Ascites, Ileus, Nausea and vomiting, Hepatomegaly, Cachexia, Weight loss, L...	ORPHA:83469
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin	ORPHA:2271
Congenital Disorder Of Glycosylation, Type Iir	Low-set ears, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, De...	OMIM:301045
Galactosemia Iii	Aminoaciduria, Galactosuria, Vomiting, Failure to thrive, Splenomegaly, Sensorineural hearing imp...	OMIM:230350
Wolman Disease	Reduced lysosomal acid lipase activity, Vomiting, Failure to thrive, Adrenal calcification, Acute...	OMIM:620151
Immunodeficiency 23	Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin...	OMIM:615816
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Proliferating Trichilemmal Cyst	Skin ulcer, Sparse scalp hair	ORPHA:492
Muckle-Wells Syndrome	Nephropathy, Vasculitis, Nephrotic syndrome, Progressive sensorineural hearing impairment, Recurr...	ORPHA:575
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Omenn Syndrome	Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Hepatomega...	OMIM:603554
Erythema Nodosum, Familial	Erythema nodosum	OMIM:132990
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl...	OMIM:615214
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis, Hypergonadotropic hypogonadism	ORPHA:1014
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E...	OMIM:224120
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Fail...	ORPHA:905
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Hypochromic anemia, Gastrointestinal angiodysplasia, Mitral regurgitation,...	ORPHA:99147
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation	OMIM:613736
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Skin ras...	OMIM:617591
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Wolman Disease	Hepatic failure, Malnutrition, Ascites, Adrenal calcification, Adrenal insufficiency, Nausea and ...	ORPHA:75233
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Acanthocytosis, Parakeratosis, Eryt...	OMIM:604777
Aggressive Systemic Mastocytosis	Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Weight loss, Neutropenia, Anorexia, Le...	ORPHA:98850
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Ichthyosis, Splenomegaly	ORPHA:2274
7P22.1 Microduplication Syndrome	Cryptorchidism	ORPHA:314034
Whim Syndrome	Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Atel...	ORPHA:51636
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Eosinophi...	ORPHA:353298
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit...	ORPHA:543
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:619689
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Skin ulcer, Failure to thrive, Elevated circulating a...	OMIM:170100
Pulmonary Blastoma	Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma	ORPHA:64741
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Leukocytos...	ORPHA:77297
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Skin rash, ...	OMIM:260920
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism	OMIM:261550
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Diarrhea, Hepatosplenomegaly, Decreased mean corpuscular volume, Ellipto...	OMIM:618278
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Colorectal polyposis	ORPHA:160148
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Decreas...	OMIM:618116
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Pruritus, Erythroderma	ORPHA:280785
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Pseudovaginal Perineoscrotal Hypospadias	Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias, Abnor...	OMIM:264600
Galactose Epimerase Deficiency	Aminoaciduria, Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Feeding di...	ORPHA:79238
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Alpha-Thalassemia	Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Ba...	ORPHA:846
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz...	OMIM:300908
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin, Chilblains, Thrombocytopenia	OMIM:612952
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis, Erythroderma	OMIM:133200
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Chronic hepatitis, Cutis ma...	ORPHA:3260
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Diarrhea, Decreased body weight, Hematuria, Glomerulonephritis, Tubuloint...	ORPHA:340
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failu...	ORPHA:139402
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine,...	ORPHA:906
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated circulating hepatic transaminase concentration, Abnormal circulating lactate dehydrogena...	ORPHA:284426
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Increased circulating lactate dehydrogenase concentration, Abnormal ...	ORPHA:86841
Dowling-Degos Disease 4	Epidermal acanthosis, Pruritus	OMIM:615696
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Premature grayi...	ORPHA:381
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card...	ORPHA:464321
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Conductive hearing impairment, Increased mean corpuscular volume, Atresia of the external auditor...	OMIM:300946
Atelis Syndrome 1	Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Downslanted pa...	OMIM:620184
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ...	ORPHA:436159
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec...	OMIM:243150
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia	ORPHA:46532
Macrophage Activation Syndrome	Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Hepat...	ORPHA:158061
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Mitochondrial Neurogastrointestinal Encephalomyopathy	Diarrhea, Sensorineural hearing impairment, Cachexia, Cirrhosis, Weight loss, Abdominal distentio...	ORPHA:298
Shwachman-Diamond Syndrome	Abnormality of the outer ear, Aplastic anemia, Hearing impairment, Hypopituitarism, Pancytopenia,...	ORPHA:811
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Pleural Mesothelioma	Abnormal pleura morphology, Pleural effusion, Weight loss, Lymphadenopathy, Hepatomegaly, Abnorma...	ORPHA:50251
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Systemic lupus erythematosus, Recurrent sinopulmonary infections, Excessive sk...	ORPHA:498359
Caudal Appendage-Deafness Syndrome	Cryptorchidism	ORPHA:1123
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody...	OMIM:620321
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,...	OMIM:616050
Cystic Echinococcosis	Peritoneal abscess, Pulmonary cyst, Elevated gamma-glutamyltransferase level, Hyperbilirubinemia,...	ORPHA:400
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In...	OMIM:619868
Alpha-Heavy Chain Disease	Ascites, Malabsorption, Splenomegaly, Hypocalcemia, Hepatomegaly, Dysgammaglobulinemia, Lymphaden...	ORPHA:100025
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Mantle Cell Lymphoma	Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:52416
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo...	OMIM:602390
Cernunnos-Xlf Deficiency	Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin...	ORPHA:169079
Mannose-Binding Lectin Deficiency	Recurrent skin infections	OMIM:614372
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, Abnormal he...	ORPHA:79333
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Reduced natural killer cell activity, Hepatom...	OMIM:603553
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Congestive heart failure, Pallor, Sensorineural hearing impairment, Paroxysmal atrial t...	ORPHA:49827
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Hereditary Folate Malabsorption	Cheilitis, Gastroesophageal reflux, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocyto...	ORPHA:90045
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan...	OMIM:613839
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Babesiosis	Hepatic failure, Anorexia, Leukopenia, Renal insufficiency, Splenomegaly, Nausea and vomiting, Th...	ORPHA:108
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Diarrhea, Hepatosplenomegaly, Pancytopenia, Pulmonary hem...	ORPHA:79124
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in...	ORPHA:231154
Classic Galactosemia	Diarrhea, Cryptorchidism, Decreased fertility in females, Primary amenorrhea, Hepatomegaly, Prema...	ORPHA:79239
Dengue Fever	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Bruising suscep...	ORPHA:99828
Keratolytic Winter Erythema	Pustule, Hyperhidrosis	ORPHA:50943
Tafro Syndrome	Increased circulating interleukin 6 concentration, Anasarca, Increased circulating lactate dehydr...	ORPHA:457077
Testicular Anomalies With Or Without Congenital Heart Disease	Microphallus, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Te...	OMIM:615542
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Immunodeficiency 8 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Complete or ne...	OMIM:615401
Niemann-Pick Disease, Type A	Vomiting, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated circula...	OMIM:257200
Dermatitis, Atopic	Allergic rhinitis, Atopic dermatitis, Keratoconus, Cataract, Eczematoid dermatitis, Pruritus, Con...	OMIM:603165
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Failure to thrive, Rectal abscess, Panhypogammaglobulinemia, Recurrent otiti...	OMIM:601495
Systemic-Onset Juvenile Idiopathic Arthritis	Pleural effusion, Skin rash, Splenomegaly, Joint swelling, Lymphadenopathy, Arthritis, Elevated c...	ORPHA:85414
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Ankyloblepharon, Cryptorchidism	ORPHA:1074
Toxic Epidermal Necrolysis	Erythema, Abnormal vagina morphology, Acute hepatic failure, Nausea and vomiting, Weight loss, Ne...	ORPHA:537
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Urethritis, Abscess, Anorexia, Abdominal pain, Pu...	ORPHA:810
Aicardi-Goutieres Syndrome 6	Chilblains, Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Zygomycosis	Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis...	ORPHA:73263
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Intellectual Developmental Disorder, Fra12A Type	Recurrent lower respiratory tract infections, Erythroderma	OMIM:136630
Mucopolysaccharidosis-Plus Syndrome	Thickened skin, Epicanthus, Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, ...	OMIM:617303
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Ichthyosis With Erythrokeratoderma	Erythema, Erythroderma, Scaling skin, Epidermal acanthosis, Pruritus	OMIM:620507
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Microcytic anemia, Osteomyelitis, Hepato...	OMIM:609628
Kikuchi-Fujimoto Disease	Erythema, Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Anorexia, Hepatomega...	ORPHA:50918
Psoriasis 14, Pustular	Erythema, Psoriasiform dermatitis, Leukocytosis, Pustule, Parakeratosis, Oligoarthritis, Neutroph...	OMIM:614204
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Hepatoportal Sclerosis	Hypersplenism, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Ascites, Intrahepatic por...	ORPHA:64743
Bazex Syndrome	Palmoplantar keratoderma, Lung adenocarcinoma, Parakeratosis, Acanthosis nigricans, Scaling skin,...	ORPHA:166113
Sting-Associated Vasculopathy, Infantile-Onset	Erythema, Pustular rash, Lymphopenia, Cutis marmorata, Follicular hyperplasia, Pustule, Telangiec...	OMIM:615934
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Coproporphyria, Hereditary	Diarrhea, Vomiting, Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic ...	OMIM:121300
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,...	ORPHA:2722
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Nausea and vomiting, Renal insufficiency, Renal tubular dysfunction, Hepato...	ORPHA:289916
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Autoimmune Hepatitis	Inflammation of the large intestine, Cirrhosis, Glomerulonephritis, Acute hepatitis, Jaundice, As...	ORPHA:2137
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat...	OMIM:300755
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Noonan Syndrome 8	Low-set ears, Webbed neck, Eczematoid dermatitis, Failure to thrive, Downslanted palpebral fissur...	OMIM:615355
Igg4-Related Kidney Disease	Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Increased circulating IgE level, ...	ORPHA:449395
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Rift Valley Fever	Gingival bleeding, Melena, Elevated circulating hepatic transaminase concentration, Abnormal blee...	ORPHA:319251
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Recurrent upper respiratory tract infecti...	OMIM:618131
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash, Hepatomegaly, Splenomegaly	OMIM:619175
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism	OMIM:274205
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Malabsorption, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice	ORPHA:172
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Vomiting, Abnormal pulmonary interstitial morphology, Atelectasis, Hilar...	OMIM:620233
Acrocephalopolydactyly	Epicanthus, Hepatosplenomegaly, Protuberant abdomen, Microtia	ORPHA:221054
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, Pallor, R...	OMIM:611590
Schopf-Schulz-Passarge Syndrome	Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, Ridged nail, Narrow nail, ...	OMIM:224750
Propionic Acidemia	Hyperglycinuria, Vomiting, Eczematoid dermatitis, Cardiomyopathy, Failure to thrive, Increased le...	OMIM:606054
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Dry skin, Nail dyst...	ORPHA:2890
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
Immunodeficiency 19	Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, Recurrent...	OMIM:615617
C1Q Deficiency 1	Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus	OMIM:613652
Whipple Disease	Diarrhea, Cachexia, Anorexia, Hepatomegaly, Abdominal pain, Pedal edema, Gastrointestinal hemorrh...	ORPHA:3452
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Nausea and vomiting, Renal insufficiency, Hepatomegaly, Lethargy, Anemia	ORPHA:28
Porphyria Cutanea Tarda	Portal inflammation, Poor wound healing, Hepatic steatosis, Decreased circulating hepcidin concen...	ORPHA:101330
Amyloidosis, Primary Localized Cutaneous, 3	Dry skin	OMIM:617920
Juvenile Arthritis	Leukocytosis, Skin rash, Thrombocytosis	OMIM:618795
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Bilateral Striopallidodentate Calcinosis	Subcutaneous hemorrhage, Abnormality of the liver, Intrauterine growth retardation, Thrombocytope...	ORPHA:1980
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail...	OMIM:278000
Deafness, Congenital, With Total Albinism	Hypogonadism	OMIM:220900
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Congenital Disorder Of Glycosylation, Type Ih	Low-set ears, Hypoalbuminemia, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, C...	OMIM:608104
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Arthritis	ORPHA:3165
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Congenital Rubella Syndrome	Type I diabetes mellitus, Splenomegaly, Skin rash, Sensorineural hearing impairment, Abnormality ...	ORPHA:290
N Syndrome	Abnormal eyelid morphology, Hypospadias, Cryptorchidism	ORPHA:2608
Cryoglobulinemic Vasculitis	Vasculitis, Mediastinal lymphadenopathy, Gastrointestinal hemorrhage, Skin ulcer, Gastrointestina...	ORPHA:91138
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopro...	ORPHA:167
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Lymphadenopathy, Arthritis	OMIM:617772
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepati...	OMIM:615207
Neutrophilia, Hereditary	Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia	OMIM:162830
Systemic Lupus Erythematosus 17	Myelitis, Lymphopenia, Leukopenia, Malar rash, Decreased circulating complement C3 concentration,...	OMIM:301080
Erythrokeratodermia Variabilis	Erythema, Alopecia, Abnormal hair morphology, Dry skin, Generalized hirsutism, Abnormal testis mo...	ORPHA:317
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver...	OMIM:617021
Cronkhite-Canada Syndrome	Diarrhea, Lymphedema, Anorexia, Malabsorption, Splenomegaly, Hepatomegaly, Cachexia, Aplasia/Hypo...	ORPHA:2930
Sarcoidosis, Susceptibility To, 2	Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Splenomegaly, Pneumothor...	OMIM:612387
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Lymphedema, Malabsorption, N...	OMIM:214900
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Low-set ears, Type I diabetes mellitus, Gastroesophageal reflux, Hepatitis, Failure to thrive in ...	OMIM:613385
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatos...	ORPHA:38
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Hearing impairment, Elevated circulating gamma-amino...	OMIM:619658
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Bive...	OMIM:619573
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease...	OMIM:616100
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Congenital Syphilis	Diarrhea, Hearing impairment, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Nephro...	ORPHA:499009
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Wiskott-Aldrich Syndrome	Gingival bleeding, Nephropathy, Inflammation of the large intestine, Diarrhea, Decreased proporti...	OMIM:301000
Melioidosis	Pneumonia, Unusual skin infection, Brain abscess, Cutaneous abscess, Foot osteomyelitis, Hepatiti...	ORPHA:31202
Spermatogenic Failure 20	Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ...	ORPHA:100024
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Autoinflammatory Disease, Systemic, With Vasculitis	Erythema, Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Ab...	OMIM:620376
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,...	OMIM:616726
Syndromic X-Linked Intellectual Disability 7	Hypogonadism, Hypoplasia of penis, Micropenis, Cryptorchidism	ORPHA:85274
Congenital Enterovirus Infection	Hypoalbuminemia, Fetal ascites, Hepatic failure, Hepatitis, Cardiomyopathy, Cholestasis, Leukopen...	ORPHA:292
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade...	OMIM:618852
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Ulerythema Ophryogenesis	Dry skin, Facial erythema, Sparse lateral eyebrow	ORPHA:3406
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Hepatic failure, Increas...	OMIM:620367
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep...	ORPHA:1163
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612783
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s...	ORPHA:2198
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Folliculitis, Keratitis, Dry skin, Sparse eyelashes, Facial erythema, Ectropion, ...	OMIM:308800
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Solitary Rectal Ulcer Syndrome	Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Dec...	ORPHA:209964
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Insulin Autoimmune Syndrome	Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Weight loss, Ar...	ORPHA:411593
Isolated Splenogonadal Fusion	Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology...	ORPHA:457083
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Skin rash, Splenomegaly, Infectious encephaliti...	ORPHA:99745
Mirage Syndrome	Aspiration pneumonia, Lymphopenia, Cryptorchidism, Decreased body weight, Achalasia, Hypospadias,...	OMIM:617053
Esophagitis, Eosinophilic, 2	Eosinophilia, Esophagitis	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Esophagitis	OMIM:610247
Idiopathic Achalasia	Recurrent aspiration pneumonia, Gastroesophageal reflux, Dysphagia, Bronchitis	ORPHA:930
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Increased LDL cholesterol concentration, Hepatomegaly, Jaundice, Hypoproteinemi...	OMIM:267700
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea...	OMIM:615190
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia...	OMIM:615387
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Abnormal circulating lactate dehydrogenase concentration, Cryptorchidism, Ane...	ORPHA:67044
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia	OMIM:618886
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Inflammatory Skin And Bowel Disease, Neonatal, 1	Blepharitis, Perioral erythema, Increased circulating IgE level, Pustule, Erythroderma, Perianal ...	OMIM:614328
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Stevens-Johnson Syndrome	Erythema, Diarrhea, Acute hepatic failure, Nausea and vomiting, Weight loss, Abdominal pain, Dysp...	ORPHA:36426
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide...	ORPHA:70593
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Sepsis In Premature Infants	Diarrhea, Decreased body weight, Neutropenia, Abdominal distention, Hepatomegaly, Elevated circul...	ORPHA:90051
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Fail...	ORPHA:83471
Lysosomal Acid Lipase Deficiency	Diarrhea, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Nausea and vomit...	ORPHA:275761
Methylcobalamin Deficiency Type Cble	Vomiting, Increased mean corpuscular volume, Hearing impairment, Failure to thrive, Pancytopenia,...	ORPHA:2169
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ...	OMIM:600802
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Legionnaires Disease	Diarrhea, Lymphopenia, Abnormal pleura morphology, Nausea and vomiting, Hematuria, Anorexia, Recu...	ORPHA:549
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly, Anemia, Abnormalit...	ORPHA:75563
Fusariosis	Abnormality of the spleen, Lymphopenia, Neutropenia, Granuloma, Osteomyelitis, Abnormality of the...	ORPHA:228119
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Hyperbilirubinemia, Dark urine, ...	ORPHA:79303
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Perioral erythema, Failure to thrive, Hypogonadism, Decreased testicular size, Dry skin...	OMIM:201100
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti...	OMIM:618213
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Hypogonadism, Brittle hair, Pili torti, Abnormal testis mo...	ORPHA:202
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:616278
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis	OMIM:615294
Lymphatic Malformation 3	Recurrent skin infections	OMIM:613480
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Diabetes mellitus, Cryptorchidism, Lack of skin elasticity	OMIM:615381
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Uv-Sensitive Syndrome 3	Dry skin	OMIM:614640
Dermoodontodysplasia	Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Dry skin, Trichodysplasia, Sparse scal...	ORPHA:1660
Ménétrier Disease	Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Stomach cancer, Abnorma...	ORPHA:2494
Candidiasis, Familial, 1	Cutaneous anergy, Abnormality of the endocrine system, Chronic mucocutaneous candidiasis	OMIM:114580
Seborrhea-Like Dermatitis With Psoriasiform Elements	Epidermal acanthosis, Seborrheic dermatitis	OMIM:610227
Wells Syndrome	Eosinophilia, Pruritus	ORPHA:901
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse body hair, Dry skin, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse scalp hair	OMIM:618535
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Petechiae, Sens...	ORPHA:294
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Ascites, Pleural effusion, Splenomegaly, Cyanosis, Hepatomegaly, Hydrops...	ORPHA:2414
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Skin ulcer, Abnormal erythrocyte mor...	ORPHA:288
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Otitis media, Recurrent sinusitis	OMIM:618781
Thrombocytopenia 1	Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased...	OMIM:313900
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Chilblain Lupus 1	Antinuclear antibody positivity, Skin ulcer, Chilblains	OMIM:610448
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Recurrent lower res...	ORPHA:60033
Nocardiosis	Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Brain abscess, Osteomyelit...	ORPHA:31204
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm...	OMIM:616433
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Failure to thrive, Malnutrition, Exocrine pancreatic insufficiency, Splenomega...	OMIM:612714
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Prolonged bleeding time, Bruising susceptibility, Ly...	ORPHA:3226
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II...	OMIM:273800
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Decreased circulating total IgG, Pustular rash, Anoperineal fistula, Recurrent otitis m...	OMIM:619381
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Diarrhea, Protracted di...	ORPHA:67
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, Failure to thrive, 3-Methylglutaconic aciduria, Anisocytosis, La...	OMIM:604273
Atypical Hemolytic Uremic Syndrome	Decreased circulating complement factor B concentration, Abnormality of complement system, Microa...	ORPHA:2134
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre...	OMIM:616005
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis...	OMIM:209920
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag...	ORPHA:2585
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinem...	OMIM:152800
Immunodeficiency 22	Decreased circulating IgG level, Ascites, Decreased circulating IgA level, Decreased proportion o...	OMIM:615758
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con...	ORPHA:3203
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Gaucher Disease, Perinatal Lethal	Low-set ears, Pulmonary hypoplasia, Hepatic failure, Ascites, Hepatosplenomegaly, Polyhydramnios,...	OMIM:608013
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Bifid uvula, Sparse eyebrow, Downslanted palpebral fissures, Respiratory distress, Stenosis of th...	OMIM:606164
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Low-set ears, Superficial dermal perivascular inflammatory infiltrate, Cryptorchidism, Parakerato...	ORPHA:83617
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous...	OMIM:612782
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Conductive hearing impairment, Cutaneous mastocytosis, Upslanted palpebral fissure, Epicanthus, S...	OMIM:248910
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Palmoplantar keratoderma, Orthokeratosis, Recurrent respiratory infections, Hype...	OMIM:615508
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Mast Cell Sarcoma	Mastocytosis, Hypoplasia of the ear cartilage, Splenomegaly, Weight loss, Lymphadenopathy, Hepato...	ORPHA:66661
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Elevated ...	ORPHA:79126
Immunodeficiency 13	Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Lympho...	OMIM:615518
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Low-set ears, Pancytopenia, Epicanthus, Neutropenia, Hepatomegaly, High palate, Stomatitis, Homoc...	OMIM:277380
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Gastroesophageal reflux, Failure to thrive, Methylmalonic aciduria, Feeding diffi...	OMIM:614857
Peutz-Jeghers Syndrome	Neoplasm of the colon, Abnormality of the ureter, Stomach cancer, Intestinal obstruction, Neoplas...	ORPHA:2869
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Diarrhea, Decreased lymphocyte proliferation in response to an...	OMIM:619313
Prader-Willi syndrome (Type 1)	Hypogonadism	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Hypogonadism	DECIPHER:53
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Hepatic cysts, Eosinophilia, Erythroderma, Anal atresia, Decreased circulating antib...	OMIM:617425
Kaposiform Lymphangiomatosis	Bruising susceptibility, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Lymphangioma, Abnorm...	ORPHA:464329
Bullous Impetigo	Erythema, Abnormality of the lymphatic system, Pustule, Septic arthritis, Recurrent bacterial ski...	ORPHA:36237
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia	OMIM:133180
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria, Vomiting, Diarrhea, Failure to thrive, Methylmalonic aciduria, Respiratory distre...	OMIM:250940
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Diarrhea, Abnormal lymph ...	ORPHA:54251
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Griscelli Syndrome Type 2	Hemophagocytosis, Premature graying of hair, Pancytopenia, Hyperlipidemia, Splenomegaly, Petechia...	ORPHA:79477
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Increased circulating interleukin 8 concentration, Premature graying of hair, Microcyti...	OMIM:256040
Mal De Meleda	Erythema, Epidermal acanthosis, Inflammatory abnormality of the skin, Superficial dermal perivasc...	ORPHA:87503
Alveolar Echinococcosis	Pulmonary cyst, Abnormal mesentery morphology, Increased circulating antibody level, Abnormal spl...	ORPHA:284
Familial Mediterranean Fever	Diarrhea, Chronic constipation, Neutrophilia, Elevated circulating C-reactive protein concentrati...	OMIM:249100
Multiple Myeloma	Nephropathy, Nephrotic syndrome, Acute kidney injury, Elevated circulating creatinine concentrati...	ORPHA:29073
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Diarrhea, Glandular hypospadias, Telecanthus, Abnormal ...	ORPHA:2575
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mevalonic Aciduria	Low-set ears, Diarrhea, Morbilliform rash, Hepatosplenomegaly, Fluctuating hepatomegaly, Elevated...	OMIM:610377
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Dry skin, Alopecia of scalp, Nail dystrophy, Scaling skin	OMIM:618373
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Ptosis, Thrombocytopenia, Anemia	OMIM:610539
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Celiac disease, Eczematoid dermatitis, Thyroiditis	OMIM:618985
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic...	OMIM:146110
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:618254
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Castleman Disease	Restrictive cardiomyopathy, Nausea and vomiting, Follicular hyperplasia, Intestinal obstruction, ...	ORPHA:160
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Leri Pleonosteosis	Upslanted palpebral fissure, Short palpebral fissure, Blepharophimosis, Lack of skin elasticity	ORPHA:2900
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Hypertriglyceridemia,...	OMIM:608898
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis	OMIM:615028
Aicardi-Goutieres Syndrome 7	Diarrhea, Pancytopenia, Hepatic steatosis, Chilblains, Increased circulating antibody level, Weig...	OMIM:615846
Felty Syndrome	Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, A...	ORPHA:47612
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi...	OMIM:266200
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Olmsted Syndrome, X-Linked	Epidermal acanthosis, Posterior blepharitis, Blepharitis	OMIM:300918
Thyrotropin-Releasing Hormone Deficiency	Dry skin	OMIM:275120
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis	OMIM:616744
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Immunodeficiency 96	Decreased circulating IgG level, Multicystic kidney dysplasia, Increased proportion of gamma-delt...	OMIM:619774
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Nausea and vomiting, Renal insufficiency, Macrocytic anemia, Hepatome...	ORPHA:27
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Membranous nephropathy	OMIM:618999
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Multiple r...	ORPHA:2924
Bronchiolitis Obliterans	Pneumonia, Autoimmunity, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis	ORPHA:1303
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Arthritis, ...	OMIM:604416
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Erythema, Patchy alopecia, Scarring alopecia of scalp	ORPHA:346
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c...	OMIM:620210
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Pallor, Splenomeg...	OMIM:194380
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Antineutrophil antibody positivity, Hepatitis, Acute hepatic failure, Failure to thrive in infanc...	ORPHA:228426
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I...	OMIM:618462
Coccidioidomycosis	Hearing impairment, Abnormality of the spleen, Morbilliform rash, Abscess, Abnormality of the fem...	ORPHA:228123
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Eleva...	ORPHA:562639
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic paraplegia, Spasticity, Spastic paraparesis, Spastic gait, Failure to thrive, Decreased l...	OMIM:238970
Congenital Erythropoietic Porphyria	Thickened skin, Reduced haptoglobin level, Scleritis, Keratoconjunctivitis, Fragile skin, Poikilo...	ORPHA:79277
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps...	ORPHA:183675
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Inf...	OMIM:307200
Galactosemia I	Aminoaciduria, Cataract, Galactosuria, Diarrhea, Vomiting, Failure to thrive, Decreased liver fun...	OMIM:230400
Bathing Suit Ichthyosis	Alopecia, Nail dystrophy, Scaling skin, Epidermal acanthosis, Sparse hair	ORPHA:100976
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Pearson Marrow-Pancreas Syndrome	Erythema, Sideroblastic anemia, Pancytopenia, Neutropenia, Anorexia, Hepatomegaly, 3-Methylglutar...	OMIM:557000
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Adrenal calcification, Nausea and vomiting, Splenomegaly, Cirrhosis, H...	ORPHA:75234
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Epidermal acanthosis, Pruritus, Erythroderma	OMIM:608649
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Dry s...	OMIM:614576
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Skin rash, Eosinophilia, P...	ORPHA:2314
Bacterial Toxic-Shock Syndrome	Diarrhea, Abscess, Glomerulonephritis, Abdominal pain, Recurrent skin infections, Osteomyelitis, ...	ORPHA:36234
Recon Progeroid Syndrome	Red eye, Growth delay, Dry skin, Attached earlobe, Keratoconjunctivitis sicca, Thrombocytopenia, ...	OMIM:620370
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Down Syndrome	Decreased fertility, Type II diabetes mellitus, Acute megakaryocytic leukemia, Ventricular septal...	ORPHA:870
Inflammatory Bowel Disease 28, Autosomal Recessive	Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis	OMIM:613148
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Diarrhea, Failure to thrive in infancy, Leukocytosis, Skin rash, Joint swelling, Chronic diarrhea...	OMIM:617099
Harderoporphyria	Neonatal hyperbilirubinemia, Vomiting, Increased circulating ferritin concentration, Increased ur...	OMIM:618892
Peeling Skin Syndrome 4	Epidermal acanthosis, Nail dystrophy, Scaling skin	OMIM:607936
Indolent Systemic Mastocytosis	Mastocytosis, Abdominal cramps, Elevated total serum tryptase, Generalized abnormality of skin, U...	ORPHA:98848
Myoectodermal Gonadal Dysgenesis Syndrome	Low-set ears, Elevated circulating luteinizing hormone level, Dry skin, Sensorineural hearing imp...	OMIM:618419
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Subpleural interstitial thickenin...	ORPHA:79128
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Sparse eyebrow, Decreased serum testosterone concentration, Long eyelashes, Absent s...	ORPHA:495875
Polycythemia Vera	Gingival bleeding, Early satiety, Acute leukemia, Weight loss, Hepatomegaly, Abdominal pain, Gast...	ORPHA:729
Deleted in azoospermia	Azoospermia	OMIM:400003
Transaldolase Deficiency	Premature skin wrinkling, Hepatosplenomegaly, Telangiectasia, Cirrhosis, Thrombocytopenia, Anemia...	ORPHA:101028
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Periodic Fever, Familial, Autosomal Dominant	Erysipelas, Hepatic amyloidosis, Cervical lymphadenopathy, Skin rash, Myositis, Conjunctival hype...	OMIM:142680
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti...	OMIM:608184
Rh Deficiency Syndrome	Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Ol...	ORPHA:71275
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, ...	OMIM:615122
Trichohepatoenteric Syndrome 1	Low-set ears, Cholestasis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hypospad...	OMIM:222470
Costello Syndrome	Keratoconus, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Failure to thrive in infancy, ...	ORPHA:3071
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Low-set ears, Abnormality of the ureter, Ptosis, Short stature,...	ORPHA:2522
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Low-set ears, Hepatic failure, Abdominal distention, Downslanted palpebral fissures, Pancreatic l...	OMIM:235255
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Cataract, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Hearing impairment, ...	OMIM:158310
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Low-set ears, Giant cell hepatitis, Nephropathy, Elevated gamma-glutamyltransferase level, Hearin...	OMIM:208085
Mixed Connective Tissue Disease	Nephropathy, Mediastinal lymphadenopathy, Gastroesophageal reflux, Xerostomia, Gastrointestinal h...	ORPHA:809
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Cockayne Syndrome Type 1	Cataract, Male hypogonadism, Diarrhea, Elevated circulating hepatic transaminase concentration, F...	ORPHA:90321
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Thick eyebrow, Cryptorchidism	OMIM:309585
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia, Ataxia	OMIM:618093
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Recurrent pneumonia, Pustule	OMIM:616069
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:301310
Aredyld Syndrome	Type I diabetes mellitus, Low-set, posteriorly rotated ears, Abnormality of the ureter, Type II d...	ORPHA:1133
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Babi...	OMIM:128230
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Acute myeloid leukemia, N...	ORPHA:158057
Caroli Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ...	ORPHA:53035
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Lymphopenia, Lymph node hypoplasia, Recurrent lower respir...	OMIM:613179
Huntington Disease-Like 2	Chorea, Action tremor, Rigidity, Weight loss, Bradykinesia	OMIM:606438
Avian Influenza	Pneumonia, Hypoalbuminemia, Myelitis, Elevated circulating hepatic transaminase concentration, Ac...	ORPHA:454836
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Lymphopenia, Interstitial pneumonitis, Thromboc...	ORPHA:454831
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu...	OMIM:617718
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Androgen Insensitivity, Partial	Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ...	OMIM:312300
Ichthyosis, Congenital, Autosomal Recessive 6	Dry skin, Epidermal acanthosis, Erythroderma, Scaling skin	OMIM:612281
46,Xy Sex Reversal 10	Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t...	OMIM:616425
Ciliary Dyskinesia, Primary, 46	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:619436
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
8P11.2 Deletion Syndrome	Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Azoospermia, Splenomegaly, Cryptorc...	ORPHA:251066
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Recurrent pharyng...	ORPHA:42642
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile...	OMIM:619585
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Inflammatory abnormality of the eye, Abnormal eyela...	ORPHA:2045
Sarcoidosis	Abnormal lymph node morphology, Abnormal pleura morphology, Abnormal reproductive system morpholo...	ORPHA:797
Uv-Sensitive Syndrome 1	Dry skin	OMIM:600630
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Pruritus	ORPHA:86893
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Hepatosplenomegaly, Reticulocytosis, Jaundice, Hemolytic anemia	ORPHA:33574
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Methylmalonic aciduria, Respiratory distre...	OMIM:251000
Hermansky-Pudlak Syndrome 9	Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Biotinidase Deficiency	Diarrhea, Vomiting, Organic aciduria, Apnea, Skin rash, Splenomegaly, Sensorineural hearing impai...	OMIM:253260
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Hepatic fibrosis, Bone marrow hypocellulari...	OMIM:617341
Cinca Syndrome	Hearing impairment, Urticaria, Leukocytosis, Splenomegaly, Nausea and vomiting, Sensorineural hea...	ORPHA:1451
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo...	ORPHA:35078
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis, Neutropenia	OMIM:193670
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Cutis marmorata, Livedo ra...	OMIM:615688
Elastosis Perforans Serpiginosa	Crusting erythematous dermatitis, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Recessive X-Linked Ichthyosis	Dry skin, Cryptorchidism	ORPHA:461
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis,...	OMIM:611762
Juvenile Huntington Disease	Chorea, Myoclonus, Gait ataxia, Rigidity, Weight loss, Ataxia, Bradykinesia, Progressive cerebell...	ORPHA:248111
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Focal segmental glomerulosclerosis, Ascites, Stage 5 chronic kidney disease, Ple...	OMIM:603278
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Dry skin, Alopecia of scalp, Cryptorchidism, Low posterior hairline, A...	ORPHA:2617
Interstitial Granulomatous Dermatitis With Arthritis	Erythema, Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive,...	ORPHA:79099
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Transaldolase Deficiency	Low-set ears, Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Poor suck, Decrease...	OMIM:606003
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Sparse eyebrow, Folliculitis, Keratitis, Sparse eyelashes, Facial erythema, Conjunctivitis, Bleph...	OMIM:612843
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczematoid dermatitis, Organic aciduria, Respiratory distress, Nausea and vomiti...	ORPHA:79242
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Lack of skin elasticity	ORPHA:1366
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Epistaxis, Bruising ...	ORPHA:324636
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Ichthyosis With Confetti	Pruritus, Erythroderma, Scaling skin	OMIM:609165
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Giant platelets, Postnatal growth retardation, Cryptorchidism, Feeding difficulties...	OMIM:611209
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Autoimmunity, Recurrent sinopulmonary infections	OMIM:609529
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Leukocytosis, Conjunctival hyperemia, Conjunctivitis, Maculopapula...	OMIM:191900
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,...	OMIM:603903
Spermatogenic Failure 47	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Axial Mesodermal Dysplasia Spectrum	Gastroesophageal reflux, Abnormal morphology of female internal genitalia, Abnormality of the spl...	ORPHA:1834
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Eosin...	OMIM:617237
Glucagonoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Ac...	ORPHA:97280
Eec Syndrome	Hypospadias, Sparse eyebrow, Keratitis, Xerostomia, Decreased response to growth hormone stimulat...	ORPHA:1896
Lymphatic Malformation 6	Hearing impairment, Epicanthus, Atrial septal defect, Periorbital edema, Abnormal pinna morpholog...	OMIM:616843
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Low-set ears, Hepatosplenomegaly, Cryptorchidism, Ventricular septal defect, Micropenis, Abdomina...	ORPHA:1655
Neonatal Alloimmune Neutropenia	Pneumonia, Antineutrophil antibody positivity, Maternal diabetes, Neutropenia in presence of anti...	ORPHA:464370
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis	OMIM:120100
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Thickened skin, Red-brown urine, Purple urine, Erythroid hyperplasia, Ab...	ORPHA:95159
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow	OMIM:600331
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of...	OMIM:614878
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Systemic Lupus Erythematosus	Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia...	OMIM:152700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ...	OMIM:617780
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Premature grayin...	OMIM:127550
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Palmoplantar pustulosis, Pustule, Hypon...	ORPHA:247353
Forsythe-Wakeling Syndrome	Low-set ears, Decreased body weight, Thrombocytopenia, Short stature, Nephrotic syndrome, Growth ...	OMIM:613606
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Long eyelashes, Absent scrotum, Keratoconjunctivitis sicca, Laterally extended eyebrow, Synophrys	OMIM:618479
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Increased circulating lactate dehyd...	OMIM:210250
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho...	OMIM:613490
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Oral leukoplakia, Hear...	OMIM:613990
Pachydermoperiostosis	Thickened skin, Gastrointestinal hemorrhage, Palmoplantar keratoderma, Eczematoid dermatitis, Ede...	ORPHA:2796
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ...	ORPHA:186
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Congenital Atransferrinemia	Anemia, Arthritis	ORPHA:1195
Oliver-Mcfarlane Syndrome	Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, Hypogonado...	OMIM:275400
Letterer-Siwe Disease	Hepatosplenomegaly, Pallor, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Jaundic...	OMIM:246400
Mosaic Trisomy 14	Failure to thrive, Low-set, posteriorly rotated ears, Cryptorchidism, Ectopic anus, Ptosis, Bleph...	ORPHA:1703
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hypoplasia of penis, Telecanthus, Aplasia/Hypoplasia of the testes, Cryptorchidism	ORPHA:3055
Zika Virus Disease	Myelitis, Vomiting, Pruritus, Subcutaneous hemorrhage, Skin rash, Transient hearing impairment, I...	ORPHA:448237
Autoimmune Polyendocrinopathy Type 4	Rheumatoid arthritis, Antiphospholipid antibody positivity, Iridocyclitis, Tubulointerstitial nep...	ORPHA:227990
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Aicardi-Goutieres Syndrome 4	Low-set ears, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancyt...	OMIM:610333
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Erythema, Abnormality of the nail, Scaling skin	OMIM:607602
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Elevated bronchoalveolar lavage fluid neutrophil proporti...	OMIM:608710
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer...	OMIM:254450
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome	Dry skin	OMIM:218650
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Chilblains, Thrombocytopenia	OMIM:610329
Meige Disease	Facial edema, Predominantly lower limb lymphedema, Absence of lymph node germinal center, Skin ul...	ORPHA:90186
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ethylmalonic aciduria, Failure to thrive, Cardiomyopathy, Respiratory distress, Increased level o...	ORPHA:26792
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Epicanthus, Ptosis, H...	OMIM:269920
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Symptomatic Form Of Hfe-Related Hemochromatosis	Arrhythmia, Cirrhosis, Elevated jugular venous pressure, Weight loss, Apathy, Hepatomegaly, Abdom...	ORPHA:465508
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Bradykinesia, Gait ataxia, Abnormal pyramidal sign, Tremor by anatomi...	ORPHA:101110
Spinocerebellar Ataxia Type 12	Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida...	ORPHA:98762
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Erythema, Diarrhea, Intestinal obstruction, Abdominal pain, Vasculitis, Erysipelas, Myositis, Per...	ORPHA:32960
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Eosinophilia, L...	OMIM:616651
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Ataxia, Hepat...	ORPHA:391
Gaucher Disease	Aortic valve calcification, Hearing impairment, Decreased HDL cholesterol concentration, Pancytop...	ORPHA:355
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Increased circulating antibody level, Iridocyc...	OMIM:181000
Palmoplantar Keratoderma, Nagashima Type	Epidermal acanthosis	OMIM:615598
Mycosis Fungoides	Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Lymphadenopathy, Pruritus	OMIM:254400
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced...	OMIM:224100
Gray Platelet Syndrome	Epistaxis, Abnormality of thrombocytes, Bruising susceptibility, Abnormal bleeding, Abnormality o...	ORPHA:721
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Angiostrongyliasis	Pruritus, Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating I...	ORPHA:74
Spastic Paraparesis And Deafness	Hypogonadism	OMIM:312910
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Diarrhea, Increased circulating cortisol level, Pituitary prolactin ce...	ORPHA:652
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Cholestasis, Portal hypertension, Splenomegaly, Ichthyosis, Sparse eyelashes, Aca...	ORPHA:59303
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Peptic ulcer, Pruritus, Chronic myelomonocytic leukemia, Leukocytosis, Splenom...	ORPHA:98849
Hennekam Syndrome	Low-set ears, Lymphopenia, Epicanthus, Pulmonary lymphangiectasia, Ectopic kidney, Abnormal pinna...	ORPHA:2136
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Low-set ears, Recurrent pneumonia, Downslanted palpebral fissures, Microcytic anemia, Hepatosplen...	OMIM:619750
Lamellar Ichthyosis	Ectropion, Dry skin, Lack of skin elasticity, Aplasia/Hypoplasia of the eyebrow	ORPHA:313
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella	OMIM:620196
Congenital Disorder Of Glycosylation, Type Ii	Low-set ears, Cataract, Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Upslanted pa...	OMIM:607906
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Dilated cardiomyopathy, Increased circulating lactate d...	OMIM:300842
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt...	OMIM:259710
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Portal fibrosis, Portal infla...	OMIM:602347
Proteus Syndrome	Downslanted palpebral fissures, Splenomegaly, Ptosis, Hyperkeratosis, Epidermal acanthosis, Lymph...	OMIM:176920
Evans Syndrome	Epistaxis, Bruising susceptibility, Pallor, Petechiae, Autoimmune hemolytic anemia, Lethargy, Syn...	ORPHA:1959
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Hemophagocytosi...	OMIM:619858
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, E...	OMIM:251880
Lead Poisoning	Chronic kidney disease, Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increas...	ORPHA:330015
Congenital Lethal Erythroderma	Dry skin, Congenital exfoliative erythroderma	ORPHA:1954
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Abnormal helix morphology, Clitoral hypertrophy, Elevated circulating long chain f...	OMIM:214110
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Squamous Cell Carcinoma Of The Esophagus	Feeding difficulties in infancy, Nausea and vomiting, Lymphadenopathy	ORPHA:99977
Al Amyloidosis	Xerostomia, Abnormal cardiac atrium morphology, Elevated circulating alkaline phosphatase concent...	ORPHA:85443
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Lichen Planus Pemphigoides	Conjunctivitis, Skin vesicle, Blepharitis	ORPHA:254478
Cyanosis, Transient Neonatal	Reticulocytosis, Cyanosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Epidermal acanthosis	OMIM:617526
Ichthyosis, Annular Epidermolytic, 2	Erythema, Scaling skin	OMIM:620148
Sandhoff Disease	Failure to thrive, Cherry red spot of the macula, Splenomegaly, Ataxia, Hepatomegaly, Recurrent r...	ORPHA:796
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:612997
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of...	ORPHA:3002
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative glomerulonephritis, Systemic lu...	OMIM:613779
Stt3B-Cdg	Small scrotum, Failure to thrive, Respiratory distress, Intrauterine growth retardation, Cryptorc...	ORPHA:370924
Simple Cryoglobulinemia	Cold urticaria, Chronic lymphatic leukemia, Weight loss, Nephrotic syndrome, Abdominal pain, Purp...	ORPHA:91139
Acquired Ichthyosis	Erythema, Dry skin, Autoimmunity, Recurrent skin infections, Pruritus	ORPHA:454
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Congenital Disorder Of Glycosylation, Type Ix	Small scrotum, Failure to thrive, Respiratory distress, Intrauterine growth retardation, Cryptorc...	OMIM:615597
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Autoimmune hypoparathyroidism, Antiphospholipid antibody positivity, Iridoc...	ORPHA:227982
Congenital Disorder Of Glycosylation, Type Iik	Low-set ears, Growth delay, Failure to thrive, Elevated circulating aspartate aminotransferase co...	OMIM:614727
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size...	OMIM:619044
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Cyclic Neutropenia	Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Perianal abscess, Tooth abscess, Pe...	ORPHA:2686
3-Hydroxy-3-Methylglutaric Aciduria	Diarrhea, Lipid accumulation in hepatocytes, Tachypnea, Weight loss, Apathy, Anorexia, Hepatomega...	ORPHA:20
Diamond-Blackfan Anemia	Low-set ears, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Ventricular septa...	ORPHA:124
Pityriasis Rubra Pilaris	Pustule, Pruritus, Erythroderma, Eczematoid dermatitis	ORPHA:2897
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Low-set ears, Lymphopenia, Cryptorchidism, Elevated circulating alkaline phosphatase concentratio...	OMIM:620005
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev...	ORPHA:449432
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thickened skin, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Epica...	ORPHA:505248
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Chromosome 3Q13.31 Deletion Syndrome	Downslanted palpebral fissures, Decreased testicular size, Cryptorchidism, Epicanthus, Ptosis, Sh...	OMIM:615433
Autosomal Recessive Dopa-Responsive Dystonia	Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, ...	ORPHA:101150
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Skin rash, Splenomegaly, Auto...	ORPHA:100026
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Inflammatory abnormality of the skin, Erythema	ORPHA:90159
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Peripheral Primitive Neuroectodermal Tumor	Pelvic mass, Nausea and vomiting, Metrorrhagia, Weight loss, Anorexia, Abdominal distention, Jaun...	ORPHA:370348
Carcinoid Syndrome	Increased serum serotonin, Abnormal circulating B-type natriuretic peptide concentration, Elevate...	ORPHA:100093
Bardet-Biedl Syndrome 5	Hypogonadism, External genital hypoplasia, Micropenis	OMIM:615983
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Cutaneous Mastocytoma	Erythema, Elevated total serum tryptase, Maculopapular exanthema, Scaling skin, Pruritus	ORPHA:79455
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Ehlers-Danlos Syndrome, Hypermobility Type	Striae distensae, Hyperextensible skin, Soft skin	OMIM:130020
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Weight loss, Erythroderma	ORPHA:312
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi...	ORPHA:240103
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Keratitis, Graves disease, Diarrhea, Goi...	ORPHA:525731
Specific Granule Deficiency 2	Low-set ears, Recurrent pneumonia, Intractable diarrhea, Failure to thrive, Recurrent otitis medi...	OMIM:617475
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Low-set ears, Webbed neck, Highly arched eyebrow, Aortic valve stenosis, Chylothorax, Juvenile my...	OMIM:613563
Pseudo-Torch Syndrome 1	Low-set ears, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreas...	OMIM:251290
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Premature graying of hair, Pterygium, Decreased testicular size, Pan...	OMIM:305000
Wilson-Turner Syndrome	Thick eyebrow, Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity, Short stature, Mic...	ORPHA:3459
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility	OMIM:618670
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit...	OMIM:169400
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Dry skin, Chronic hepatitis, Decreased proportion of CD4-posi...	ORPHA:289390
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Dilated cardiomyopathy, Increased mean corpuscular volume, Hearing impairm...	ORPHA:261250
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Wolfram Syndrome	Nephropathy, Male hypogonadism, Gastrointestinal hemorrhage, Cardiomyopathy, Abnormal mesentery m...	ORPHA:3463
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:615451
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Feeding difficulties	OMIM:615085
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Petechiae, ...	OMIM:620296
Gaucher Disease Type 1	Gingival bleeding, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematuria, Cirrhosis, Anorexi...	ORPHA:77259
Conductive Deafness-Malformed External Ear Syndrome	Low-set ears, Conductive hearing impairment, Hypogonadism, Stenosis of the external auditory cana...	ORPHA:3216
Chromomycosis	Hyperkeratotic papule, Predominantly lower limb lymphedema, Keratitis, Hyperparakeratosis, Lymphe...	ORPHA:182
Malaria	Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:673
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Stuve-Wiedemann Syndrome 2	Neonatal death, Eczematoid dermatitis, Thrombocytopenia, Stillbirth	OMIM:619751
46,Xy Ovotesticular Difference Of Sex Development	Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology...	ORPHA:325345
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy, Abnormal erythrocyte morphology, Central apnea	ORPHA:71277
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level, Pruritus	ORPHA:89843
Cold Agglutinin Disease	Diarrhea, Abnormal urinary color, Pallor, Splenomegaly, Nausea and vomiting, Lymphadenopathy, Hep...	ORPHA:56425
Spermatogenic Failure 1	Cryptozoospermia, Oligozoospermia, Male infertility	OMIM:258150
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis	OMIM:300991
Immunodeficiency 66	Pustule, Recurrent skin infections	OMIM:618847
Rhabdoid Tumor	Nausea and vomiting, Hematuria, Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytop...	ORPHA:69077
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic ...	OMIM:619902
Bullous Pemphigoid	Erythema, Eczematoid dermatitis, Anti-BP180 antibody positivity, Psoriasiform dermatitis, Autoimm...	ORPHA:703
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly	Onychogryposis of toenails, Dry skin, Sparse eyebrow	OMIM:600906
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyp...	OMIM:611881
Common Variable Immunodeficiency	Pneumonia, Elevated circulating hepatic transaminase concentration, Recurrent respiratory infecti...	ORPHA:1572
Isolated Follicle Stimulating Hormone Deficiency	Sparse pubic hair, Male hypogonadism, Decreased testicular size, Delayed menarche, Azoospermia, D...	ORPHA:52901
Ataxia-Photosensitivity-Short Stature Syndrome	Dry skin	ORPHA:1184
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Failure to thrive, Recurrent aphthous stomatitis, Decreased circ...	ORPHA:275
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Elevated circulating hepatic transaminase concentration, Polycythemia, Decre...	OMIM:613280
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Generalized hypotrichosis, Sparse eyebrow, Absent hair, Trichorrhexis nodosa, Dry skin, Ridged na...	ORPHA:1010
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hype...	OMIM:619991
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Increased circulating interleukin 6 concentration, Increa...	OMIM:614034
Late-Onset Isolated Acth Deficiency	Diarrhea, Dry skin, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, Abdominal pai...	ORPHA:199299
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Atresia of the external auditory canal, Hearing impairment, Se...	OMIM:612562
Erosive Pustular Dermatosis Of The Scalp	Pustule	ORPHA:222
Necrotizing Enterocolitis	Hypotension, Diarrhea, Abdominal distention, Vomiting, Small for gestational age, Hypoactive bowe...	ORPHA:391673
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Asc...	ORPHA:90308
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Erdheim-Chester Disease	Diabetes insipidus, Abnormal pericardium morphology, Osteomyelitis, Xanthelasma, Pleural effusion...	ORPHA:35687
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Aspiration pneumonia	ORPHA:141152
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Lymphopenia, Intestinal obstruction, Cirrhosis, Secondary hyperaldosteronism...	ORPHA:90363
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibility, Petec...	OMIM:616216
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Eosinophilia, Paraparesis,...	ORPHA:449427
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Increased mean corpuscular volume, Failure to thrive, Persistence of hem...	OMIM:612561
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Bruising susceptibility, Leukopenia, Giant neutrophil granules, ...	OMIM:214500
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Diarrhea, Tympanosclerosis, Keratoconjunctivitis, Iridocyclitis, Hypoparathyroidism, Female hypog...	OMIM:240300
Lymphatic Filariasis	Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Knee osteoarthritis, Orchi...	ORPHA:2035
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocy...	OMIM:259720
X-Linked Intellectual Disability, Siderius Type	Decreased testicular size, Cryptorchidism, Synophrys	ORPHA:85287
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Consti...	ORPHA:26790
Immunodeficiency 116	Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells	OMIM:608957
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Recurrent otitis media, Protruding tongue, Neutrophilia, Hepatomegaly, Long ey...	ORPHA:99843
Bardet-Biedl Syndrome 11	Hypogonadism	OMIM:615988
Inflammatory Pseudotumor Of The Liver	Vomiting, Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B vi...	ORPHA:90003
Dystonia 16	Postural tremor, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia	ORPHA:210571
Keratoderma Hereditarium Mutilans With Ichthyosis	Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,...	ORPHA:79395
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Systemic Capillary Leak Syndrome	Oliguria, Diarrhea, Leukocytosis, Pleural effusion, Renal insufficiency, Pulmonary edema, Weight ...	ORPHA:188
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Folate Malabsorption, Hereditary	Diarrhea, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, F...	OMIM:229050
Behçet Disease	Nausea and vomiting, Weight loss, Anorexia, Abdominal pain, Endocarditis, Gastrointestinal hemorr...	ORPHA:117
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Weight loss, Abnor...	ORPHA:133
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Dry skin, Angular cheilitis, Epidermal acanthosis, Scaling skin, Pruritus, Acantholysis, Cheilitis	OMIM:616295
Mitochondrial Complex I Deficiency, Nuclear Type 5	Vomiting, Growth delay, Failure to thrive, Apnea, Lethargy, Ptosis, Episodic vomiting, Hepatomega...	OMIM:618226
Diffuse Palmoplantar Keratoderma, Bothnian Type	Erythema, Skin ulcer	ORPHA:2337
Pemphigus Erythematosus	Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Malar rash, Autoim...	ORPHA:79480
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Pneumonia, Abnormality of the hepatic vasculature, Nodular regenerative hyperp...	ORPHA:247691
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Cirrhosis, Polycythemia, Facial tel...	OMIM:600376
Elastoderma	Cutis laxa, Eczematoid dermatitis, Erysipelas, Premature skin wrinkling	ORPHA:228240
Hao-Fountain Syndrome	Micropenis, Premature adrenarche, Cryptorchidism	OMIM:616863
Kawasaki Disease	Diarrhea, Nausea and vomiting, Recurrent pharyngitis, Elevated circulating C-reactive protein con...	ORPHA:2331
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:139406
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ...	ORPHA:589
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra...	OMIM:607765
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor...	ORPHA:169802
Riddle Syndrome	Erythema, Diarrhea, Telangiectasia, Weight loss, Abdominal pain, Otitis media, Recurrent sinusiti...	ORPHA:420741
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom...	OMIM:613470
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy, Erythema	ORPHA:158014
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Lethargy, Feeding difficulties, Episodic vomiting	OMIM:618224
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp...	ORPHA:231401
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatic steatosis, Ventricular septal defect, Epicanthus, Cirrhosis, Primary amenorrhea, Hepatome...	OMIM:619418
Werner Syndrome	Skin ulcer, Hypogonadism, Thyroid carcinoma, Decreased fertility, Type II diabetes mellitus, Lack...	ORPHA:902
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,...	OMIM:615504
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Bradykinesia, Slurred ...	OMIM:300423
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, At...	OMIM:213600
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent skin infections, Abnormal leukocyte morpholo...	ORPHA:169105
Cortisone Reductase Deficiency 1	Precocious puberty, Alopecia, Hirsutism, Oligomenorrhea, Infertility	OMIM:604931
Acute Promyelocytic Leukemia	Gingival bleeding, Pancytopenia, Metrorrhagia, Hematuria, Weight loss, Neutropenia, Anorexia, Abd...	ORPHA:520
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Increased body wei...	ORPHA:64745
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Diarrhea, Increased urinary glycerol, Cholestasis, Hepa...	ORPHA:247598
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Meier-Gorlin Syndrome 8	Low-set ears, Bilateral cryptorchidism, Intrauterine growth retardation, Unilateral renal hypopla...	OMIM:617564
Prolidase Deficiency	Erythema, Palmoplantar keratoderma, Hearing impairment, Skin ulcer, Dry skin, Splenomegaly, Cutan...	ORPHA:742
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:620482
Autosomal Dominant Spastic Paraplegia Type 3	Ankle clonus, Rigidity, Babinski sign, Lower limb spasticity, Spastic gait, Bradykinesia, Frequen...	ORPHA:100984
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T c...	OMIM:613501
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Pleural effusion, Pneumothorax, Weight loss, Lymphadenopathy, Pericardial effusion, Bro...	ORPHA:411703
Neuroblastoma	Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Increased circulati...	ORPHA:635
Turcot Syndrome With Polyposis	Hematochezia, Melena, Diarrhea, Pituitary adenoma, Vomiting, Hearing impairment, Thyroid carcinom...	ORPHA:99818
Kid Syndrome	Prelingual sensorineural hearing impairment, Posterior blepharitis, Aplastic/hypoplastic lacrimal...	ORPHA:477
Celiac Disease, Susceptibility To, 1	Diarrhea, Weight loss, Abdominal distention, Abdominal pain, Stomatitis, Eczematoid dermatitis, H...	OMIM:212750
Immunodeficiency 17	Abnormal B cell morphology, Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Dec...	OMIM:615607
Syndromic Diarrhea	Lymphopenia, Dry skin, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosi...	ORPHA:84064
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Conductive hearing impairment, Failure ...	OMIM:603467
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Low-set ears, Pneumonia, Reduced natural killer cell count, Diarrhea, Failure to thrive, Decrease...	OMIM:242860
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Abnormal lymphocyte physiology, Neut...	ORPHA:1830
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Gastroesophageal reflux, Growth delay, HbH hemoglobin, Postnatal growth retardation...	OMIM:301040
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Riddle Syndrome	Dry skin	OMIM:611943
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c...	OMIM:187300
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Dry skin, Polycystic ovaries, Sparse hair, Secondary amenorrhea, Hypergonadotropic hypogonadism	OMIM:268020
Chronic Granulomatous Disease	Eczematoid dermatitis, Recurrent respiratory infections, Skin ulcer, Malabsorption, Splenomegaly,...	ORPHA:379
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Low posterior hairline, Sparse facial hair, Absent facial hair, Hypergonadotropic hy...	ORPHA:2183
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Bruising susceptibility, Downslanted palpebra...	ORPHA:98791
Amed Syndrome, Digenic	Bone marrow hypocellularity, Failure to thrive, Leukopenia, Telecanthus, Acute myeloid leukemia, ...	OMIM:619151
Copper Deficiency, Familial Benign	Anemia, Seborrheic dermatitis	OMIM:121270
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Failure to thrive, Beta 2-micro...	ORPHA:97362
Leydig Cell Hypoplasia	Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema...	ORPHA:755
Somatostatinoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97283
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology, Sensorineural hearing impairment	ORPHA:2690
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Tremor, Rigidity, Ptosis, Limb hypertonia, Bradykinesia, Small for gestational age	ORPHA:70594
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Sensorineural hearing impairment, Congenital thrombocytopenia, Neutropenia, T...	OMIM:616738
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity	OMIM:613643
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilic infiltration of the esophagus, High palate, Duodena...	OMIM:147060
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favorable response...	ORPHA:314632
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Complex Regional Pain Syndrome	Erythema, Slow-growing nails, Abnormality of hair growth, Dry skin	ORPHA:83452
Atopic Keratoconjunctivitis	Keratitis, Dry skin, Allergic conjunctivitis, Loss of eyelashes, Chemosis, Conjunctival hyperemia...	ORPHA:163934
Transcobalamin Ii Deficiency	Diarrhea, Vomiting, Failure to thrive, Methylmalonic aciduria, Pancytopenia, Macrocytic anemia, E...	OMIM:275350
Spinocerebellar Ataxia, Autosomal Recessive 32	Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Ptosis, Torticollis, Bradykinesia	OMIM:619862
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocolitis	OMIM:612567
Bleeding Disorder, Platelet-Type, 17	Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility...	OMIM:187900
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Tremor, Rigidity, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, B...	OMIM:261640
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Dysmenorrhea...	ORPHA:264580
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Telecanthus, Bifid scrotum	ORPHA:1547
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Diarrhea, Failure to thrive, Fat malabsorption, Splenomegaly, Cirrhosis, Intrahep...	OMIM:211600
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Diarrhea, Failure to thrive, Fat malabsorption, Splenomegaly, Elevated ...	OMIM:601847
Spastic Paraplegia 78, Autosomal Recessive	Spastic paraplegia, Resting tremor, Gait ataxia, Babinski sign, Parkinsonism, Abnormal pyramidal ...	OMIM:617225
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Epistaxis, Elevated circulating hepatic transaminase c...	OMIM:619463
Monosomy 22	Thickened skin, Low-set, posteriorly rotated ears, Hepatosplenomegaly, Joint swelling, Scleroderm...	ORPHA:96123
Primary Hepatic Neuroendocrine Carcinoma	Increased serum serotonin, Elevated gamma-glutamyltransferase level, Diarrhea, Weight loss, Abdom...	ORPHA:100085
Congenital Heart Defects And Ectodermal Dysplasia	High anterior hairline, Dry skin, Medial flaring of the eyebrow, Sparse scalp hair, Fragile nails	OMIM:617364
Congenital Ichthyosiform Erythroderma	Keratitis, Failure to thrive, Erythroderma, Ectropion, Pruritus, Corneal erosion	ORPHA:79394
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis	OMIM:607080
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Increased circulating antibody leve...	ORPHA:99826
H Syndrome	Hearing impairment, Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Recurrent pha...	ORPHA:168569
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp...	OMIM:620044
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Downslanted palpebral fissures, Failure to thrive, Aspiration pneumonia	OMIM:609528
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Horizontal eyebrow, Hearing impairment, Long eyelashes, Telecanthus, Upsla...	OMIM:620475
Hereditary Progressive Mucinous Histiocytosis	Pruritus, Mucinous histiocytosis	ORPHA:158025
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia	OMIM:183050
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Otitis media, Cryptorchidism, Erythroi...	OMIM:612541
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Elevated gamma-glutamyltransferase level, Stomatocytosis, Polyhydramnios, Splenomegaly, Conjugate...	OMIM:608885
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg...	ORPHA:276575
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, D...	OMIM:614069
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Tremor, Ankle clonus, Babinski sign, Scissor gait, Parkinsonism, Bradykinesia	ORPHA:521406
Spermatogenic Failure 64	Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe...	OMIM:619696
Ehlers-Danlos Syndrome, Classic Type, 2	Soft, doughy skin, Epicanthus, Hyperextensible skin, Soft skin	OMIM:130010
Vulvovaginal Gingival Syndrome	Erythema, Abnormality of tumor necrosis factor secretion, Abnormal female external genitalia morp...	ORPHA:83453
Xq27.3Q28 Duplication Syndrome	Hypogonadism, Decreased testicular size, Cryptorchidism	ORPHA:261483
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Growth delay, Failure to thrive, Methylmalonic aciduria, Feeding diffi...	ORPHA:79284
Isolated Atp Synthase Deficiency	Cataract, Renal hypoplasia, Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Re...	ORPHA:254913
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Familial Melanoma	Abnormal hair morphology, Dry skin	ORPHA:618
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Cholestasis, Hypopituitarism, Xanthelasma, Elevated cir...	ORPHA:30391
Intellectual Developmental Disorder, Autosomal Recessive 44	Shawl scrotum	OMIM:615942
Spastic Paraplegia 80, Autosomal Dominant	Spastic paraplegia, Limb ataxia, Babinski sign, Lower limb spasticity, Bradykinesia, Upper limb s...	OMIM:618418
Methylmalonic Aciduria, Cblb Type	Vomiting, Dilated cardiomyopathy, Failure to thrive, Ketonuria, Methylmalonic aciduria, Respirato...	OMIM:251110
Hb Bart'S Hydrops Fetalis	Oligohydramnios, Polyhydramnios, Splenomegaly, Abnormal hemoglobin, Pallor, Hepatomegaly, Anemia,...	ORPHA:163596
Huntington Disease-Like 1	Involuntary movements, Incoordination, Chorea, Gait ataxia, Simultanapraxia, Dysmetria, Clumsines...	ORPHA:157941
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Weight loss...	OMIM:617321
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Failure to thrive, Impaired T cell function, Oroticacid...	OMIM:258900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Erythema, Cholestasis, Recurrent otitis media, Hepatosplenomegaly, Dry skin, Hepati...	OMIM:619503
Cutis Laxa, Autosomal Recessive, Type Iib	Gastroesophageal reflux, Bruising susceptibility, Failure to thrive, Downslanted palpebral fissur...	OMIM:612940
Gaucher Disease, Type Iii	Depression, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Hepatomegaly, Sh...	OMIM:231000
Cataract-Deafness-Hypogonadism Syndrome	Hypogonadism	ORPHA:1383
3Q13 Microdeletion Syndrome	Epicanthus, Hypoplasia of penis, Cryptorchidism	ORPHA:1621
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal hypospadias...	ORPHA:456328
Plague	Inflammation of the large intestine, Lymphadenitis, Skin ulcer, Chapped lip, Dry skin, Skin rash,...	ORPHA:707
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Low-set ears, Hearing impairment, Cryptorchidism, Feeding difficulties in infancy, Hepatomegaly, ...	OMIM:301056
Spastic Paraparesis-Deafness Syndrome	Hypogonadism	ORPHA:2815
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Wolcott-Rallison Syndrome	Chronic kidney disease, Acute hepatic failure, Hyperbilirubinemia, Decreased body weight, Atrial ...	ORPHA:1667
L-Ferritin Deficiency	Alopecia	OMIM:615604
Pneumocystosis	Increased circulating lactate dehydrogenase concentration, Interstitial pneumonitis, Pleural effu...	ORPHA:723
Relapsing Fever	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:91547
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Membranoproliferative glomerulonephritis, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Palmoplantar erythema, Brittle hair, Spars...	OMIM:104100
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg...	ORPHA:276580
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Inte...	OMIM:611182
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Large for gestational age, Palpitations, Pallor, Hyperinsul...	ORPHA:324575
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Immunodeficiency 77	Gastroparesis, Bronchiectasis, Cutaneous abscess	OMIM:619223
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair	ORPHA:1008
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Mic...	ORPHA:903
X-Linked Dystonia-Parkinsonism	Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Aspirat...	ORPHA:53351
Chronic Recurrent Multifocal Osteomyelitis 3	Osteomyelitis, Palmoplantar pustulosis	OMIM:259680
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Diarrhea, Failure to thrive, Hypertrophic cardiomyopathy, Nausea and vomiting, Hearin...	ORPHA:1842
Preeclampsia	Chronic kidney disease, Elevated systolic blood pressure, Abnormality of the hepatic vasculature,...	ORPHA:275555
Isovaleric Acidemia	Bone marrow hypocellularity, Hyperglycinuria, Vomiting, Pancytopenia, Leukopenia, Cerebellar hemo...	OMIM:243500
Aicardi-Goutieres Syndrome 1	Erythema, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chilblains, Sp...	OMIM:225750
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Cataract, Diarrhea, Xerostomia, Hematochezia, Vomiting, Gastrointesti...	OMIM:175500
Weiss-Kruszka Syndrome	Highly arched eyebrow, Downslanted palpebral fissures, Decreased response to growth hormone stimu...	ORPHA:502430
Cockayne Syndrome Type 2	Male hypogonadism, Hearing impairment, Intrauterine growth retardation, Cryptorchidism, Feeding d...	ORPHA:90322
Spinocerebellar Ataxia 17	Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Apraxia, Ataxia, ...	OMIM:607136
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, Sensorineura...	OMIM:616084
Parkinson Disease 6, Autosomal Recessive Early-Onset	Bradykinesia, Parkinsonism, Resting tremor, Rigidity	OMIM:605909
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Skin vesic...	OMIM:613102
Rhizomelic Chondrodysplasia Punctata	Dry skin, Alopecia, Sparse body hair	ORPHA:177
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Striae distensae, Petechiae, Hyperextensible skin	OMIM:225310
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Ascites, ...	OMIM:617397
Systemic Lupus Erythematosus, Susceptibility To, 6	Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pleuritis, ...	OMIM:609939
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Oral-pharyngeal dysphagia, Hematuria,...	ORPHA:95455
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Abnormality of the spleen, Pancytopenia, Splenomegaly, Intracr...	ORPHA:85212
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Limb ataxia, Rigidity, Babinski sign, Parkinsonism, Hypertonia, Bradykinesia	OMIM:618824
Methylmalonic Aciduria, Cbla Type	Vomiting, Ketonuria, Failure to thrive, Methylmalonic aciduria, Respiratory distress, Pancytopeni...	OMIM:251100
Mitochondrial Complex I Deficiency, Nuclear Type 30	Redundant skin, Neonatal death	OMIM:301021
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Decreased testicular size, Dry skin, Cryptorchidism, Polycystic ovaries, Secondary amenorrhea, Hy...	ORPHA:3085
Ciliary Dyskinesia, Primary, 45	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Autosomal Recessive Progressive External Ophthalmoplegia	Cogwheel rigidity, Action tremor, Optic neuritis, Parkinsonism with favorable response to dopamin...	ORPHA:254886
Osteopetrosis, Autosomal Recessive 4	Petechiae, Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia, Growth delay	OMIM:611490
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Chron...	OMIM:619446
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Abdominal pain, Hyperkalemia, Pleural empyema, Abnormal circulating chemokine concentra...	ORPHA:544482
O'Donnell-Luria-Rodan Syndrome	Vomiting, Downslanted palpebral fissures, Cryptorchidism, Prolonged neonatal jaundice, Feeding di...	OMIM:618512
Alg8-Cdg	Low-set ears, Cataract, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentrati...	ORPHA:79325
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Clitoral hypertrophy, Long penis, Hypertrichosis, Dry skin, Onychauxis	OMIM:262190
Free Sialic Acid Storage Disease	Skin ulcer, Ascites, Failure to thrive in infancy, Splenomegaly, Proteinuria, Hepatomegaly, Nephr...	ORPHA:834
Phosphoglycerate Dehydrogenase Deficiency	Decreased testicular size, Megaloblastic anemia, Developmental cataract, Thrombocytopenia, Growth...	OMIM:601815
Congenital Disorder Of Glycosylation, Type Iq	Low-set ears, Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Fai...	OMIM:612379
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal...	ORPHA:276556
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Webbed neck, Large fleshy ears, Ascites, Hypertrophic cardiomyopathy, Telecanthus, ...	OMIM:616897
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Growth delay, Malnutrition, Esophageal stricture, Corneal scarring, Abnormal esophagus ...	OMIM:226600
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome	Psoriasiform dermatitis	ORPHA:3052
Impaired Intellectual Development And Psoriasis	Psoriasiform dermatitis	OMIM:309480
Peroxisome Biogenesis Disorder 8A (Zellweger)	Elevated circulating aspartate aminotransferase concentration, Ventricular septal defect, Feeding...	OMIM:614876
Spermatogenic Failure 17	Male infertility	OMIM:617214
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H...	ORPHA:752
Mpi-Cdg	Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Vomiting, Diarrhea, De...	ORPHA:79319
Hemophilia A	Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b...	OMIM:306700
Tarp Syndrome	Small earlobe, Short palpebral fissure, Prominent antihelix, Failure to thrive, Extramedullary he...	ORPHA:2886
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Hypogonadism, Long eyelashes, Cryptorchidi...	ORPHA:3363
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Immunodeficiency 110 With Lymphoproliferation	Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia...	OMIM:614868
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Vomiting, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancyto...	ORPHA:35858
Leptospirosis	Uveitis, Acute kidney injury, Diarrhea, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Skin r...	ORPHA:509
Drug-Induced Lupus Erythematosus	Malar rash, Elevated circulating creatine kinase concentration, Decreased circulating complement ...	ORPHA:231111
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Vasculitis, Diarrhea, Gastrointestinal hemorrhage, Growth delay, Recurrent aphthous sto...	ORPHA:343
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Palmoplantar scaling skin, Nail dystrophy, Sparse eyelashes, Palmoplant...	OMIM:605676
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Hepatitis	ORPHA:363523
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Blepharitis, Chapped lip, Psoriasiform dermatitis, Pustule, Left ventricular hypertroph...	ORPHA:294023
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility	OMIM:620103
Parkinson Disease 19A, Juvenile-Onset	Spasticity, Pill-rolling tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Limb hypertonia...	OMIM:615528
Peroxisome Biogenesis Disorder 5A (Zellweger)	Low-set ears, Clitoral hypertrophy, Abnormal helix morphology, Hearing impairment, Cholestasis, H...	OMIM:614866
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Spastic gait, Bradykinesia, Abnormal pyramidal sign, Spastic tetraparesis	OMIM:619052
Alexander Disease Type I	Spasticity, Failure to thrive, Cachexia, Abnormal pyramidal sign, Ataxia, Palatal tremor	ORPHA:363717
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Neonatal deat...	OMIM:300219
Bernard-Soulier Syndrome	Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ...	ORPHA:274
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Poor wound healing, Abnormality of the spleen, Hepatosplenomegaly, Pa...	ORPHA:2072
Xeroderma Pigmentosum	Thickened skin, Erythema, Hearing impairment, Dry skin, Cryptorchidism, Sensorineural hearing imp...	ORPHA:910
Ifap Syndrome 2	Posterior blepharitis, Keratitis, Perioral erythema, Angular cheilitis, Keratoconjunctivitis sicca	OMIM:619016
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypogonadism, Decreased testicular size, Striae distensae, Cryptorchidism, Delayed puberty, Micro...	OMIM:300354
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Lethargy, Chorea, Bradykinesia, Ataxia	OMIM:618683
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com...	OMIM:301081
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea	OMIM:614858
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis	OMIM:619466
Carnitine Deficiency, Systemic Primary	Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Congestive heart failure, Hypertrophic car...	OMIM:212140
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar...	ORPHA:2298
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Chorea, Dysmetria, Parkinsonism, Abnormal pyramidal sign, Ataxia, Bradykinesia, Slurred speech	OMIM:618317
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Cryptorchidism	ORPHA:1568
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Hydroa Vacciniforme	Papulovesicular eruption, Keratitis, Eczematoid dermatitis, Malar rash, Superficial dermal periva...	ORPHA:330058
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Mhc Class I Deficiency 1	Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis...	OMIM:604571
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Erythroderma, Ectropion, Epidermal acanthosis, Hyperkeratosis, C...	OMIM:615023
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Antineutrophil antibody positiv...	ORPHA:99931
Parkinson Disease 22, Autosomal Dominant	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:616710
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Low-set ears, Cryptorchidism, Sensorineural hearing impairment, Ventricular septal defect, Epican...	OMIM:235510
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Sacroiliac arthritis, Psoriasiform dermatitis, Malar rash, Skin rash, Autoimmunity, Psor...	ORPHA:85436
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Cryptorchidism, Thi...	OMIM:249270
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Nausea and vomiting...	ORPHA:44890
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Low-set ears, Cataract, Renal hypoplasia, Bifid scrotum, Pancytopenia, Telecanthus, Renal insuffi...	ORPHA:85321
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro...	OMIM:231100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase ...	OMIM:242150
Pressure-Induced Localized Lipoatrophy	Erythema, Inflammatory abnormality of the skin	ORPHA:90160
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Dry skin, Nail dystrophy, Hirsutism, Low posterior hairline, Micropenis, Syn...	OMIM:300860
Cole Disease	Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Abnormal blood ...	OMIM:615522
Lig4 Syndrome	Erythema, Acute leukemia, Pancytopenia, Telecanthus, Leukocytosis, Cryptorchidism, Upslanted palp...	ORPHA:99812
Cyanide-Induced Parkinsonism-Dystonia	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	ORPHA:306692
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss, Ataxia	OMIM:613662
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho...	OMIM:619849
Staphylococcal Necrotizing Pneumonia	Pneumonia, Leukopenia, Leukocytosis, Pleural effusion, Increased circulating procalcitonin concen...	ORPHA:36238
Glycogen Storage Disease Ii	Urinary incontinence, Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactat...	OMIM:232300
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Pallor, Failure to thrive, Anorexia	ORPHA:79283
Hemophilia B	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Hematuria, Persistent...	OMIM:306900
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Spinocerebellar Ataxia 34	Spasticity, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnormal pyramidal sign, ...	OMIM:133190
Congenital Disorder Of Glycosylation, Type Iie	Low-set ears, Short palpebral fissure, Gastroesophageal reflux, Secundum atrial septal defect, Fa...	OMIM:608779
22Q11.2 Deletion Syndrome	Low-set ears, Hearing impairment, Cryptorchidism, Epicanthus, Posterior embryotoxon, Feeding diff...	ORPHA:567
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly, Feeding difficulties	OMIM:611721
Polydactyly-Myopia Syndrome	Cryptorchidism	ORPHA:2917
Parkinsonism With Polyneuropathy	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:619279
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple...	ORPHA:263501
Caribbean Parkinsonism	Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism, Apraxia, Weakness due ...	ORPHA:97355
21Q22.11Q22.12 Microdeletion Syndrome	Low-set ears, Short palpebral fissure, Downslanted palpebral fissures, Recurrent otitis media, Dr...	ORPHA:261323
Hemochromatosis, Type 4	Cardiomyopathy, Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Ci...	OMIM:606069
Cholangiocarcinoma	Biliary tract neoplasm, Anorexia, Abdominal pain, Acholic stools, Jaundice, Pruritus	ORPHA:70567
Pontocerebellar Hypoplasia, Type 13	Failure to thrive, Decreased liver function, Long eyelashes, Feeding difficulties, Pleural effusi...	OMIM:618606
Papular Xanthoma	Histiocytosis	ORPHA:158008
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Ectropion, Conjunctivitis, Pruritus	ORPHA:411777
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni...	OMIM:618699
Cryptococcosis	Pneumonia, Abnormality of the outer ear, Vomiting, Osteomyelitis, Nodular pattern on pulmonary HR...	ORPHA:1546
Birk-Aharoni Syndrome	Failure to thrive, Hearing impairment, Thick eyebrow, Cryptorchidism, Macrocytic anemia, Micropen...	OMIM:620071
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Scaling skin, Dry skin	OMIM:614457
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Vomiting, Elevated circulating hepatic transaminase concentration, Failure to t...	OMIM:614480
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Diarrhea, Vomiting, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Ascite...	OMIM:226300
Glanzmann Thrombasthenia	Gingival bleeding, Menometrorrhagia, Gastrointestinal hemorrhage, Prolonged bleeding following ci...	ORPHA:849
Bowen-Conradi Syndrome	Cryptorchidism	ORPHA:1270
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Gait ataxia, Failure to thrive	OMIM:612075
Primary Effusion Lymphoma	Pleural effusion, Abnormal peritoneum morphology, Abdominal distention, Pericardial effusion, Abd...	ORPHA:48686
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Cutis marmorata, Pleural eff...	ORPHA:69735
Glycogen Storage Disease Vii	Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru...	OMIM:232800
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Diffuse Neonatal Hemangiomatosis	Abnormal vagina morphology, Ascites, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Anemia	ORPHA:2123
Ichthyosis, Congenital, Autosomal Recessive 1	Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Er...	OMIM:242300
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Homocystinuria, Failure to thrive, Methylmalonic aciduria, Lethargy, Megalobla...	OMIM:236270
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan...	ORPHA:139507
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Dystonia 12	Tremor, Parkinsonism, Torticollis, Bradykinesia	OMIM:128235
Mogs-Cdg	Hepatosplenomegaly, Chronic constipation, Sensorineural hearing impairment, Pulmonary edema, Atri...	ORPHA:79330
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, N...	OMIM:610198
B4Galt1-Cdg	Low-set ears, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase con...	ORPHA:79332
Mccune-Albright Syndrome	Renal phosphate wasting, Hearing impairment, Increased circulating prolactin concentration, Incre...	ORPHA:562
Lichen Planopilaris	Pruritus, Skin ulcer, Hepatitis	ORPHA:525
Donohue Syndrome	Low-set ears, Hepatic fibrosis, Clitoral hypertrophy, Precocious puberty, Long penis, Cholestasis...	OMIM:246200
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato...	ORPHA:99867
Kaposi Sarcoma	Diarrhea, Lymphedema, Abnormality of the spleen, Abnormality of the liver, Skin rash, Generalized...	ORPHA:33276
Complement Factor B Deficiency	Pneumonia, Peritonitis	OMIM:615561
X-Linked Intellectual Disability, Van Esch Type	Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu...	ORPHA:163976
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Diarrhea, Vomiting, Elevated circulating hepatic transa...	ORPHA:79240
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Dysdiadochokinesis, Rigidity	ORPHA:228169
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
19P13.3 Microduplication Syndrome	Precocious puberty, Low-set ears, Gastroesophageal reflux, Growth delay, Downslanted palpebral fi...	ORPHA:447980
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Hellp Syndrome	Generalized edema, Acute kidney injury, Elevated circulating hepatic transaminase concentration, ...	ORPHA:244242
Moynahan Syndrome	Hypogonadism, Alopecia, Sparse hair	ORPHA:2574
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Abnormality of thrombocytes, Bruising su...	ORPHA:758
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Tumoral Calcinosis, Normophosphatemic, Familial	Conjunctivitis	OMIM:610455
Huntington Disease	Involuntary movements, Decreased body mass index, Chorea, Myoclonus, Rigidity, Babinski sign, Clu...	ORPHA:399
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, Abdominal distention, Failure to thrive, Osteomyelitis, Elevated circulating C-...	OMIM:619423
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Netherton Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Skin rash, Erythroderma, Decreased circul...	ORPHA:634
Hemophilia A	Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem...	ORPHA:98878
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Gait ataxia, Parkinsonism, Torticollis, Bradykinesia	ORPHA:71517
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Downslanted palpebral fissures, Decreased fertility, Abnormal testis morphology	ORPHA:2233
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Abnormality of the pu...	ORPHA:284227
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Failure to thrive, Cardiomyopathy, Decreased liver function, Hea...	ORPHA:67048
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Recurren...	OMIM:208900
Neuraminidase Deficiency	Facial edema, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increase...	OMIM:256550
Carney Triad	Gastrointestinal hemorrhage, Diarrhea, Adrenal overactivity, Adrenocortical adenoma, Ascites, Phe...	ORPHA:139411
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Unilateral renal agenesis, Orthokeratosis, Hearing impairment, Congenital ichthyosiform...	OMIM:308050
Lambert Syndrome	Cholestasis, Failure to thrive in infancy, Ventricular septal defect, Intrahepatic biliary atresi...	ORPHA:1296
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Abnormal cardiac septum morph...	ORPHA:93941
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Skin rash, Abscess, Pustule, Joint swe...	OMIM:612852
Delayed Encephalopathy Due To Carbon Monoxide Poisoning	Bradykinesia, Rigidity	ORPHA:306686
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Babinski sign, Recurrent respiratory infections, Bradykinesia	OMIM:619063
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Failure to thrive, Oligohydramnios, Splenomegaly, Macrocytic a...	OMIM:615512
Trichothiodystrophy 6, Nonphotosensitive	Small for gestational age, Dry skin, Ichthyosis, Increased HbA2 hemoglobin, Decreased mean corpus...	OMIM:616943
Grubben-De Cock-Borghgraef Syndrome	Dry skin	ORPHA:2101
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Low-set ears, Giant cell hepatitis, Cholestatic liver disease, Elevated circulating hepatic trans...	OMIM:613404
Dracunculiasis	Diarrhea, Skin rash, Arthritis, Pruritus, Recurrent cutaneous abscess formation	ORPHA:231
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Antiphospholipid antibody ...	ORPHA:391487
Subcorneal Pustular Dermatosis	Erythema, Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Pustule, Pruritus	ORPHA:48377
Erythrocytosis, Familial, 1	Vertigo, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating...	OMIM:133100
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Wolfram Syndrome 1	Cataract, Hydroureter, Hearing impairment, Cardiomyopathy, Growth delay, Sideroblastic anemia, Se...	OMIM:222300
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Inflammatory abnormality of the skin, Elevated circulating he...	ORPHA:398063
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary, Ptosis	ORPHA:1875
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Diarrhea, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocy...	ORPHA:54057
Microcephaly 16, Primary, Autosomal Recessive	Telecanthus, Ptosis, Cryptorchidism	OMIM:616681
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Primary...	OMIM:269200
Hjv Or Hamp-Related Hemochromatosis	Impotence, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypog...	ORPHA:79230
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:508533
Aicardi-Goutieres Syndrome 9	Dry skin, Hepatosplenomegaly, Hepatic steatosis, Chilblains, Weight loss, Micropenis, Glomerular ...	OMIM:619487
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Vomiting, Diarrhea, Failure to thrive, Respiratory distress, Cerebral ischemia, Lethargy, Reye sy...	ORPHA:927
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob...	ORPHA:1333
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Agel Amyloidosis	Cataract, Depression, Xerostomia, Bruising susceptibility, Cardiomyopathy, Bilateral ptosis, Hear...	ORPHA:85448
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Rena...	ORPHA:890
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Ventricu...	OMIM:301068
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Abnormal epidermal morphology, Palmoplantar keratoderma, Orthokeratosis, H...	ORPHA:79501
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Hearing impairment, Failure to thrive, Cho...	OMIM:619377
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Hypocholesterolemia, Psoriasiform dermatitis, Ichthyosis, Decreased LDL choles...	OMIM:616834
Elliptocytosis 1	Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia	OMIM:611804
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent nipple, Absent hair, Dry skin, Brittle hair, Sparse hair	OMIM:614940
Endocardial Fibroelastosis	Anterior hypopituitarism, Hypoplasia of penis, Telecanthus, Cryptorchidism	ORPHA:2022
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Thickened skin, Congenital pulmonary airway malformation, Type I diabetes mel...	ORPHA:436252
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent nipple, Sparse lateral eyebrow, Periorbital wrinkles, Sparse body hair, Dry skin, Sparse e...	OMIM:614941
Ollier Disease	Anemia, Lymphangioma, Skin ulcer, Precocious puberty	ORPHA:296
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia	OMIM:618881
Acrofrontofacionasal Dysostosis 2	Bifid scrotum, Downslanted palpebral fissures, Redundant neck skin, Ptosis, Shawl scrotum, Hyposp...	OMIM:239710
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu...	ORPHA:42
Björnstad Syndrome	Hypogonadism, Alopecia, Brittle hair	ORPHA:123
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Fgfr2-Related Bent Bone Dysplasia	Low-set ears, Abnormality of the outer ear, Clitoral hypertrophy, Extramedullary hematopoiesis, H...	ORPHA:313855
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Low-set ears, Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Elevated circulating thyroid-st...	OMIM:610199
Adult Syndrome	Alopecia, Toenail dysplasia, Absent nipple, Skin ulcer, Fine hair, Breast hypoplasia, Fingernail ...	ORPHA:978
Igg4-Related Ophthalmic Disease	Keratitis, Colon cancer, Increased circulating IgE level, Increased circulating IgG4 level, Siala...	ORPHA:449563
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Primary amenorrhea, Micropenis, Decreased serum leptin	OMIM:614962
Gorham-Stout Disease	Hearing impairment, Osteomyelitis, Abnormality of the internal auditory canal, Pleural effusion, ...	ORPHA:73
Lathosterolosis	Intrahepatic cholestasis, Hepatic failure, Hearing impairment, Failure to thrive, Downslanted pal...	ORPHA:46059
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Ovarian Fibroma	Abdominal distention, Abnormality of the ovary, Ascites, Gonadal calcification, Pleural effusion,...	ORPHA:314473
Scrub Typhus	Hypotension, Abnormal bleeding, Nausea and vomiting, Skin rash, Splenomegaly, Infectious encephal...	ORPHA:83317
Cerebellar Ataxia, Cayman Type	Gait ataxia, Ataxia, Truncal ataxia, Bradykinesia, Intention tremor	OMIM:601238
Congenital Disorder Of Glycosylation, Type If	Dry skin, Erythroderma, Scaling skin	OMIM:609180
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Low-set ears, Hematuria, Feeding difficulties in infancy, Neutropenia, Hepatomegaly,...	OMIM:277400
Porphyria, Congenital Erythropoietic	Cholelithiasis, Corneal scarring, Splenomegaly, Red urine, Loss of eyelashes, Hepatomegaly, Jaund...	OMIM:263700
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Resting tremor, Obesity, Tremor, Juvenile cataract, Babi...	OMIM:300055
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Oligohydramnios, Polyhydramnios, Splenomegaly, Aplasia/Hypopl...	ORPHA:1046
Mcdonough Syndrome	Short palpebral fissure, Low-set, posteriorly rotated ears, Cryptorchidism, Protruding ear, Cache...	ORPHA:2471
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Hypogonadism, Intrauterine growth retardation, Splenomegaly, Hepatomegaly	OMIM:608540
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Acrodermatitis Enteropathica	Erythema, Skin ulcer, Abnormal eyebrow morphology, Dry skin, Pustule, Abnormal eyelid morphology,...	ORPHA:37
Huntington Disease-Like 2	Involuntary movements, Weight loss, Chorea, Parkinsonism	ORPHA:98934
Porphyria Due To Ala Dehydratase Deficiency	Diarrhea, Hearing impairment, Purple urine, Increased urinary porphobilinogen, Abnormal circulati...	ORPHA:100924
Phenylketonuria	Dry skin, Fair hair	OMIM:261600
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Eleva...	OMIM:607330
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Increased circulating IgA level, Weight loss, Tubulointerstitial nephritis, Abnormali...	ORPHA:79078
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia, Hypertonia	ORPHA:1389
17Q23.1Q23.2 Microdeletion Syndrome	Highly arched eyebrow, Blepharitis, Gastroesophageal reflux, Hearing impairment, Failure to thriv...	ORPHA:261279
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Abnormal scrotum morphology, Cryptorchidism, Increased number of skin folds, Epica...	ORPHA:2505
Microscopic Polyangiitis	Erythema, Diarrhea, Nausea and vomiting, Hematuria, Arrhythmia, Abnormal retinal vascular morphol...	ORPHA:727
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly, Intraalveolar phospholipid accu...	OMIM:618042
Classic Phenylketonuria	Cataract, Depression, Eczematoid dermatitis, Nausea and vomiting, Lack of skin elasticity, Growth...	ORPHA:79254
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Macular edema, Leukopenia, Elliptocytosis, Anisocytosis...	OMIM:616959
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Lysinuric Protein Intolerance	Diarrhea, Hemophagocytosis, Pulmonary hemorrhage, Protein avoidance, Hepatomegaly, Aminoaciduria,...	OMIM:222700
Adenocarcinoma Of The Esophagus	Gastroesophageal reflux, Obesity, Nausea and vomiting, Feeding difficulties in infancy, Lymphaden...	ORPHA:99976
Neu-Laxova Syndrome	Hypogonadism, Pterygium, External genital hypoplasia, Lack of skin elasticity, Abnormal nasolacri...	ORPHA:2671
Combined Oxidative Phosphorylation Deficiency 2	Low-set ears, Elevated circulating hepatic transaminase concentration, Redundant neck skin, Letha...	OMIM:610498
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Proximal renal tubular acidosis, Hepatomegaly, Elliptocytosis, Secondary hyperparat...	ORPHA:2785
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis, Gastroesophageal reflux, Skin rash, Intestinal obstruction, Increased inflammato...	ORPHA:183
Huntington Disease	Chorea, Gait ataxia, Bradykinesia, Rigidity	OMIM:143100
Diamond-Blackfan Anemia 10	Low-set ears, Conductive hearing impairment, Hearing impairment, Atresia of the external auditory...	OMIM:613309
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hyper...	ORPHA:251992
Listeriosis	Arteritis, Diarrhea, Hearing impairment, Abscess, Pustule, Jaundice, Abdominal pain, Endocarditis...	ORPHA:533
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Abetalipoproteinemia	Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypotriglyceridem...	ORPHA:14
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Adrenal insufficiency, Splenomegaly, Adreno...	OMIM:609981
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Downslanted palpebral fissures, Bilateral ptosis, Absent gallbladder, Cryptorchidism, Upslanted p...	ORPHA:163979
Vernal Keratoconjunctivitis	Red eye, Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovasculariza...	ORPHA:70476
Kagami-Ogata Syndrome	Short palpebral fissure, Pulmonary hypoplasia, Polyhydramnios, Splenomegaly, Ventricular septal d...	OMIM:608149
Spondyloenchondrodysplasia	Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Decreased response to growth hormo...	ORPHA:1855
Autosomal Recessive Polycystic Kidney Disease	Low-set ears, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepato...	ORPHA:731
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Long eyela...	OMIM:619064
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Androgen insufficiency, Cryptorchidism, Displacement of the urethral meatus, Micro...	ORPHA:95706
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness	Shawl scrotum, Nasolacrimal duct obstruction	OMIM:614187
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Downslanted palpebral fissures, Telecanthus, Cryptorchidism, Epicanthus, Ptosis, Shawl scrotum	ORPHA:1778
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615505
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of penis, Cryptorchidism, Shawl scrotum, Downslanted palpebral fissures	ORPHA:2256
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Vipoma	Erythema, Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulati...	ORPHA:97282
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Intrauterine growth retar...	OMIM:620501
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Vomiting, Diarrhea, Failure to thrive, H...	ORPHA:71
Odontoonychodermal Dysplasia	Erythema, Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, ...	OMIM:257980
Stiff Skin Syndrome	Lack of skin elasticity	ORPHA:2833
Wild Type Attr Amyloidosis	Nephropathy, Aortic valve stenosis, Nephrotic syndrome, Hypertrophic cardiomyopathy, Intermittent...	ORPHA:330001
Intestinal Dysmotility Syndrome	Low-set ears, Decreased intestinal transit time, Diarrhea, Failure to thrive, Projectile vomiting...	OMIM:620045
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Lacrimal Duct Defect	Lacrimal duct atresia, Dacryocystocele, Sinusitis, Conjunctivitis, Dacryocystitis	OMIM:149700
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B...	ORPHA:922
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ankyloblepharon, Palmoplantar keratoderma, Conductive hearing impairment, Atresia of the external...	OMIM:106260
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Esophageal stricture, Recurrent aphth...	OMIM:615468
Infantile Dystonia-Parkinsonism	Cerebral palsy, Chorea, Parkinsonism, Abnormal pyramidal sign, Limb hypertonia, Hypertonia, Brady...	ORPHA:238455
Chronic Graft Versus Host Disease	Thickened skin, Erythema, Diarrhea, Xerostomia, Abnormal vagina morphology, Poor wound healing, P...	ORPHA:99921
Microlissencephaly	Pneumonia, Hypertonia	ORPHA:1083
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Hearing impairment, Abnormality of the liver, Biliary tract abnormal...	ORPHA:79234
Riboflavin Transporter Deficiency	Iris hypopigmentation, Myoclonus, Tremor, Cachexia, Ptosis, Ataxia	ORPHA:97229
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Glycogen Storage Disease Ixb	Diarrhea, Growth delay, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Short sta...	OMIM:261750
Congenital Pancreatic Cyst	Vomiting, Anorexia, Abdominal pain, Pancreatitis, Abdominal distention, Jaundice	ORPHA:313906
Digeorge Syndrome	Low-set ears, Recurrent otitis media, Hepatic steatosis, Ovarian cyst, Ventricular septal defect,...	OMIM:188400
Bardet-Biedl Syndrome 4	Hypogonadism, External genital hypoplasia, Cryptorchidism	OMIM:615982
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased LDL ch...	ORPHA:470
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Bronchiectasis	ORPHA:1164
Neonatal Hemochromatosis	Increased circulating iron concentration, Increased circulating ferritin concentration, Congenita...	ORPHA:446
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Bronchiectasis, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhiniti...	OMIM:617092
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Vomiting, Failure to thrive, Elevated circulating thyroid-stimulating hormone co...	OMIM:617872
Microphthalmia, Syndromic 8	Short palpebral fissure, Cryptorchidism, Blepharophimosis, Premature skin wrinkling	OMIM:601349
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Long palpebral ...	OMIM:602562
Immunodeficiency 31C	Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Decreased lymphocyte prolifer...	OMIM:614162
Sweeney-Cox Syndrome	Low-set ears, Crumpled ear, Gastroesophageal reflux, Cupped ear, Velopharyngeal insufficiency, He...	OMIM:617746
Image Syndrome	Hypogonadism, Adrenal hypoplasia, Hypospadias, Cryptorchidism	ORPHA:85173
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Epidermal acanthosis, Hyperkeratosis	OMIM:613943
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Obesity, Penile freckling, Large for gestational age, Spleno...	OMIM:605309
Alg6-Cdg	Low-set ears, Hypoalbuminemia, Failure to thrive, Puberty and gonadal disorders, Abnormality of t...	ORPHA:79320
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Orthokeratosis, Acne inversa, Eczematoid dermatitis, Sparse lateral eye...	OMIM:617337
Intellectual Developmental Disorder, Autosomal Dominant 62	Striae distensae	OMIM:618793
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa...	ORPHA:3243
Spinocerebellar Ataxia Type 34	Dry skin	ORPHA:1955
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Epicanthus, Cryptorchidism	ORPHA:2489
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi...	OMIM:615157
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Epicanthus, Upslanted palpebral fissure	ORPHA:2528
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Adams-Oliver Syndrome	Cataract, Gastrointestinal hemorrhage, Failure to thrive, Ascites, Leukopenia, Portal hypertensio...	ORPHA:974
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Scarf Syndrome	Bifid scrotum, Downslanted palpebral fissures, Cryptorchidism, Epicanthus, Hypoplastic nipples, P...	ORPHA:3134
Sialuria	Low-set ears, Splenomegaly, Epicanthus, Hypoplastic nipples, Protuberant abdomen, Increased level...	OMIM:269921
Gerstmann-Straussler Disease	Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Weight ...	OMIM:137440
Nodular Non-Suppurative Panniculitis	Autoimmunity, Splenomegaly, Hepatomegaly, Weight loss, Inflammatory abnormality of the eye, Panni...	ORPHA:33577
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Mpdu1-Cdg	Eczematoid dermatitis, Decreased response to growth hormone stimulation test, Abnormal circulatin...	ORPHA:79323
Vici Syndrome	Low-set ears, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Sensorineural hea...	OMIM:242840
Alazami-Yuan Syndrome	Highly arched eyebrow, Long eyelashes, Thick eyebrow, Cryptorchidism, Synophrys	OMIM:617126
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Sparse pubic hair, Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst,...	OMIM:228300
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Dilated cardiomyopathy, Microcytic anemia, Failure to thrive in infancy, Hepatic steato...	OMIM:618805
Granulomatosis With Polyangiitis	Nausea and vomiting, Intestinal obstruction, Sensorineural hearing impairment, Hematuria, Prostat...	ORPHA:900
Proximal Xq28 Duplication Syndrome	Cryptorchidism, Epicanthus, Ptosis, Blepharophimosis, Hypospadias	ORPHA:1762
Gm1 Gangliosidosis	Low-set ears, Gastroesophageal reflux, Failure to thrive, Cardiomyopathy, Cherry red spot of the ...	ORPHA:354
Hypogonadism-Cataract Syndrome	Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l...	OMIM:240950
Noonan Syndrome 10	Low-set ears, Webbed neck, Sparse eyebrow, Downslanted palpebral fissures, Hypertrophic cardiomyo...	OMIM:616564
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogonadotropic hypo...	OMIM:610628
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly, Jaundice, Conjugated hyperbilir...	ORPHA:168577
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Tremor, Rigidity, Parkinsonism, Bradykinesia	ORPHA:329284
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Cutis laxa, Redundant skin, Increased number of skin folds	ORPHA:436274
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypertrophic c...	OMIM:246900
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leuk...	ORPHA:90033
Methemoglobinemia And Ambiguous Genitalia	Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian...	OMIM:250790
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
American Trypanosomiasis	Periorbital edema, Diarrhea, Cardiomyopathy, Pallor, Skin rash, Splenomegaly, Infectious encephal...	ORPHA:3386
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention	OMIM:616868
Takayasu Arteritis	Skin ulcer, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Gastrointestinal infarc...	ORPHA:3287
Papa Syndrome	Type I diabetes mellitus, Skin ulcer, Crohn's disease, Increased inflammatory response, Myositis,...	ORPHA:69126
Noonan Syndrome 12	Atopic dermatitis, Anteriorly placed anus, Decreased response to growth hormone stimulation test,...	OMIM:618624
Cutis Laxa, Autosomal Dominant 2	Cutis laxa, Premature skin wrinkling	OMIM:614434
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Spasticity, Rigidity, Apraxia, Parkinsonism, Bradykinesia	OMIM:221820
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Increased mean corpuscular volume, Methylmalonic aciduria, Decreased methylmalony...	OMIM:277410
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Abnormality of the lymphatic system, Seborrheic dermatitis, Telangiectasia of...	ORPHA:276280
Ohdo Syndrome	Small scrotum, Sparse eyebrow, Hearing impairment, Stenosis of the external auditory canal, Crypt...	OMIM:249620
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	ORPHA:240085
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Failure to thrive, Lethargy, Ptosis, Tachypnea, Anemia	OMIM:615838
Bardet-Biedl Syndrome 10	Hypogonadism	OMIM:615987
Barber-Say Syndrome	Ectropion, Breast aplasia, Telecanthus, Sparse or absent eyelashes, Redundant skin, Hyperextensib...	ORPHA:1231
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Bradykinesia, Lower limb spasticity	OMIM:618878
Trichothiodystrophy	Dry skin, Cryptorchidism, Ventricular septal defect, Epicanthus, Neutropenia, Bilateral sensorine...	ORPHA:33364
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Ovarian Fibrothecoma	Abdominal distention, Abnormality of the ovary, Ascites, Gonadal calcification, Pleural effusion,...	ORPHA:314478
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bradykinesia, Tremor, Rigidity	OMIM:617836
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Abnormality of the thyroid gland, Decreas...	ORPHA:2234
Autosomal Erythropoietic Protoporphyria	Erythema, Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Microcytic anemia, Cir...	ORPHA:79278
Chromosome 19Q13.11 Deletion Syndrome, Distal	Low-set ears, Short palpebral fissure, Sparse eyebrow, Growth delay, Failure to thrive, Bifid scr...	OMIM:613026
Camurati-Engelmann Disease	Hearing impairment, Urinary retention, Hypogonadism, Hypertrophic cardiomyopathy, Leukopenia, Sle...	ORPHA:1328
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn...	ORPHA:2889
Hypothyroidism, Congenital, Nongoitrous, 6	Dry skin, Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Constipation, ...	OMIM:614450
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Ascites, Elevated circulating alkaline phosphatase concentration, Rena...	OMIM:174050
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Abnormal bleeding, Duodenal polyposis, Multiple gastric polyps, Anemic pallor, Smal...	ORPHA:329971
Potocki-Shaffer Syndrome	Epicanthus, Hypothyroidism, Micropenis, Delayed puberty, Anemia, Hypertension	ORPHA:52022
Alg12-Cdg	Biventricular hypertrophy, Abnormal circulating IgG level, Cryptorchidism, Sensorineural hearing ...	ORPHA:79324
Amelo-Onycho-Hypohidrotic Syndrome	Fine hair, Abnormal fingernail morphology, Dry skin, Hypoplastic toenails, Onycholysis	ORPHA:1028
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Bruising susceptibility, Hearing impairment, Horseshoe kidney, Pancy...	OMIM:227645
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conce...	OMIM:619386
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Fanconi Anemia, Complementation Group L	Low-set ears, Bone marrow hypocellularity, Unilateral renal agenesis, Renal hypoplasia, Anotia, F...	OMIM:614083
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Epidermal acanthosis, Hyperk...	OMIM:617525
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypochromic anemia, Elevated circulating parathyroid hormone level, Fa...	ORPHA:289157
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Increased circulating interleukin 8 concen...	OMIM:620514
Severe Canavan Disease	Vomiting, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Nasogastric tube feeding, Gastrosto...	ORPHA:314911
Chronic Mucocutaneous Candidiasis	Erythema, Abnormal vagina morphology, Hepatitis, Skin ulcer, Skin rash, Hematuria, Feeding diffic...	ORPHA:1334
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Diarrhea	OMIM:219095
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena	OMIM:619182
Olmsted Syndrome 1	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi...	OMIM:614594
Candidiasis, Familial, 8	Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis	OMIM:615527
Noonan Syndrome 4	Low-set ears, Sparse eyebrow, Abnormal bleeding, Bruising susceptibility, Downslanted palpebral f...	OMIM:610733
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Parkinsonism, Tremor, Hemiparesis	ORPHA:306669
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of extrapyramidal ...	ORPHA:13
Hydrops Fetalis	Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy...	ORPHA:1041
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Thickened skin, Chylothorax, Erysipelas, Skin ulcer, Lymphedema, Dry skin, Pleural effusion, Upsl...	ORPHA:2526
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Oligozoospermia	OMIM:615703
Deafness, Conductive, With Malformed External Ear	Hypogonadism	OMIM:221300
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Telecanthus, Hypogonadotropic hypogonadism, Hypoplasia of penis, Synophrys	ORPHA:1295
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Large fleshy ears, Epicanthus, Feeding difficulties in infancy, Atrial septal defect, Dysphagia, ...	ORPHA:280633
Mandibulofacial Dysostosis-Microcephaly Syndrome	Low-set ears, Abnormality of the outer ear, Absent tragus, Conductive hearing impairment, Atresia...	ORPHA:79113
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro...	OMIM:616030
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of the prostate, Cryptorchidism, Ptosis, Delayed puberty, Blepharophimosis, Narrow pal...	OMIM:301900
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased circulating carnitine concentration, Hepatomegaly, Dysphagia, Polycystic kidney dysplas...	ORPHA:26791
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Elevated circulating hepatic transaminase concent...	OMIM:613471
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Hepatic failure, Vomiting, Elevated circulatin...	ORPHA:2394
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Antiphospholipid antibody positiv...	ORPHA:90060
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Erythroderma	OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Curly eyelashes, Blepharitis, Sparse eyelashes	OMIM:602400
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Elevated circulating hepatic transaminase conce...	OMIM:613070
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Thyrocerebrorenal Syndrome	Nephritis, Thrombocytopenia	ORPHA:3327
Radio-Tartaglia Syndrome	Low-set ears, Hearing impairment, Dry skin, Epicanthus, Narrow palpebral fissure, Long eyebrows, ...	OMIM:619312
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Polyhydramnios, Splenomegaly, Hepatomegaly, Low cholestero...	OMIM:607625
Mixed-Type Autoimmune Hemolytic Anemia	Systemic lupus erythematosus, Autoimmunity, Pallor, Skin rash, Autoimmune hemolytic anemia	ORPHA:90036
Maternal Uniparental Disomy Of Chromosome 1	Cataract, Type I diabetes mellitus, Gastroesophageal reflux, Growth delay, Failure to thrive, Hea...	ORPHA:251009
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Lassa Fever	Facial edema, Menometrorrhagia, Oliguria, Diarrhea, Hearing impairment, Nausea and vomiting, Jaun...	ORPHA:99824
Lig4 Syndrome	Failure to thrive, Pancytopenia, Psoriasiform dermatitis, Type II diabetes mellitus, Cryptorchidi...	OMIM:606593
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:614679
Developmental And Epileptic Encephalopathy 40	Intrauterine growth retardation, Lethargy, Small for gestational age, Feeding difficulties	OMIM:617065
Protoporphyria, Erythropoietic, 1	Erythema, Hepatic failure, Cholelithiasis, Eczematoid dermatitis, Pruritus, Hemolytic anemia	OMIM:177000
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia, Failure to thrive	OMIM:129850
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cryptorchidism, Cardiomegaly, Anemi...	OMIM:620135
Cogan Syndrome	Aortic regurgitation, Vasculitis, Abnormal vestibular function, Keratitis, Vertigo, Large vessel ...	ORPHA:1467
Febrile Infection-Related Epilepsy Syndrome	Autoimmunity, Sinusitis	ORPHA:163703
Gaucher Disease, Type Ii	Bronchiolitis, Gastroesophageal reflux, Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocyt...	OMIM:230900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Colitis, Congenital hypothyroidism	ORPHA:88643
Autosomal Dominant Omodysplasia	Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism, Bifid scrotum	ORPHA:93328
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Micronodular cirrhosis, Hearing impairment, Aspiration pneumonia, Ascites, Splen...	OMIM:301072
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Diamond-Blackfan Anemia 3	Webbed neck, Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, P...	OMIM:610629
Congenital Disorder Of Glycosylation, Type Iiw	Low-set ears, Elevated gamma-glutamyltransferase level, Microcytic anemia, Recurrent otitis media...	OMIM:619525
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Nausea and vomiting, Cryptorchidism, Sensorineural hearing impairment, Epicanthus, Male pseudoher...	ORPHA:847
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Spasticity, Downslanted palpebral fissures, Failure to thrive in infancy, Epicanthus, Cachexia, P...	OMIM:616801
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Small for gestational age, Hypogonadism, Dry skin, Malabsorption...	OMIM:601675
Linear Iga Dermatosis	Inflammation of the large intestine, Pruritus, Autoimmunity	ORPHA:46488
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Dry skin, Nail dystrophy	OMIM:620502
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Low-set ears, Highly arched eyebrow, Failure to thrive, Hearing impairment, Downslanted palpebral...	ORPHA:505237
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Ascites, Hypertrophic cardiomyopathy, Oligohydramnios, Pleural effusion, Hyper...	OMIM:614702
Rabies	Depression, Diarrhea, Nausea and vomiting, Anorexia, Sudden cardiac death	ORPHA:770
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Short palpebral fissure, Long eyelashes, Intrauterine growth retardation, ...	OMIM:619005
Leber Optic Atrophy And Dystonia	Upper motor neuron dysfunction, Spasticity, Athetosis, Bradykinesia	OMIM:500001
Sjögren-Larsson Syndrome	Erythema, Dry skin	ORPHA:816
5-Oxoprolinase Deficiency	Abdominal pain, Vomiting, Diarrhea, Enterocolitis	OMIM:260005
Juvenile Polyposis Syndrome	Low-set ears, Abnormal onset of bleeding, Diarrhea, Stomach cancer, Juvenile gastrointestinal pol...	ORPHA:2929
Tick-Borne Encephalitis	Myelitis, Elevated circulating hepatic transaminase concentration, Vomiting, Hearing impairment, ...	ORPHA:297
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Pallor, Pancreatic islet-cell hyperplasia, Increased body weight, Lethargy, Hyp...	ORPHA:276608
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis, Thickened skin, Erythema, Conductive hearing impairment, Hearing impairm...	ORPHA:2135
Lactose Intolerance, Adult Type	Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F...	OMIM:223100
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Snakebite Envenomation	Gingival bleeding, Erythema, Hypotension, Diarrhea, Vomiting, Epistaxis, Neuromuscular dysphagia,...	ORPHA:449285
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Hypospadias	OMIM:245550
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Scarring alopecia of scalp, Abnor...	ORPHA:35173
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Renal insufficiency, Shal...	ORPHA:440713
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl...	ORPHA:210136
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Small scrotum, Xerostomia, Absence of pubertal development, Type II diabete...	ORPHA:398079
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Microangiopathic hemolytic anemia, Abdominal pain, Unconjugated hyperbilirubinemia, Dys...	ORPHA:90038
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Generalized hirsutism, Skin ulcer	ORPHA:2218
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosi...	OMIM:173200
19Q13.11 Microdeletion Syndrome	Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Bifid scrotum, Dry skin, Sparse or absen...	ORPHA:217346
Angioma, Hereditary Neurocutaneous	Hematuria, Gastrointestinal hemorrhage, Horner syndrome	OMIM:106070
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Vomiting, Failure to thrive	ORPHA:622
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Dilated cardiomyopathy, Palmoplantar keratoderma, Ichthyosis, Parakeratosis, Pruritus, ...	OMIM:615821
Autoimmune Hypoparathyroidism	Cataract, Chronic mucocutaneous candidiasis, Autoimmunity, Myoclonic spasms, Conjunctivitis, Auto...	ORPHA:36913
Clouston Syndrome	Conjunctivitis, Sparse eyebrow, Blepharitis, Sparse eyelashes	OMIM:129500
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Prominent antihelix, Premature skin wrinkling, Medullary nephrocalcinosis, Aca...	OMIM:618947
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Low-set ears, Renal hypoplasia, Obesity, Cryptorchidism, Blepharophimosis, Micropenis, Hypospadia...	ORPHA:171839
Renpenning Syndrome	Decreased testicular size, Thin eyebrow, Upslanted palpebral fissure, Sensorineural hearing impai...	ORPHA:3242
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs...	OMIM:612841
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Methylmalonic Acidemia With Homocystinuria	Lethargy, Failure to thrive, Skin rash, Feeding difficulties	ORPHA:26
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Cataract, Hematochezia, Elevated...	ORPHA:79095
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo...	ORPHA:8
Acute Monoblastic/Monocytic Leukemia	Periorbital edema, Hypochromic anemia, Oliguria, Acute monocytic leukemia, Increased circulating ...	ORPHA:514
Smith-Lemli-Opitz Syndrome	Low-set ears, Small scrotum, Hearing impairment, Recurrent otitis media, Hepatic steatosis, Crypt...	OMIM:270400
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Laurence-Moon Syndrome	Cataract, Low-set, posteriorly rotated ears, Obesity, Renal insufficiency, Cryptorchidism, Congen...	ORPHA:2377
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Microphallus, Abnormal scrotum morphology, Cryptorchidism, Dysmenorrhea, Hypothyro...	ORPHA:397590
Fanconi Anemia, Complementation Group E	Bruising susceptibility, Hearing impairment, Horseshoe kidney, Pancytopenia, Cryptorchidism, Anem...	OMIM:600901
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Skin rash	OMIM:124950
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he...	OMIM:618433
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Skin ulcer, Generalized abnormality of skin, Ascites, Skin r...	ORPHA:779
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Glycosuria, Large fo...	ORPHA:263455
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Abnormal circulating lactate dehydrogenase concentration, Autoimmuni...	ORPHA:98827
Christianson Syndrome	Truncal ataxia, Cachexia, Thick eyebrow, Gait ataxia	ORPHA:85278
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Xerostomia, Dry skin, Ichthyosis, Sensorineural hearing impairment, Parakeratosis, Acanthosis nig...	OMIM:618527
Leopard Syndrome 2	Dry skin, Curly hair	OMIM:611554
Microcephalic Primordial Dwarfism, Montreal Type	Ptosis, Excessive wrinkling of palmar skin, Cryptorchidism	OMIM:210700
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Epicanthus, Chordee, Abnormal internal...	ORPHA:1772
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Elevated hepatic iron concentrat...	OMIM:206100
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ...	OMIM:129400
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Xerostomia, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Ectodermal dy...	OMIM:129900
Fanconi Anemia, Complementation Group A	Bruising susceptibility, Hearing impairment, Male infertility, Horseshoe kidney, Pancytopenia, Cr...	OMIM:227650
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, A...	OMIM:614742
Cyclic Vomiting Syndrome	Vomiting, Hearing impairment, Cardiomyopathy, Pallor, Nausea, Gastrointestinal dysmotility, Letha...	OMIM:500007
Neurodegeneration With Brain Iron Accumulation 6	Bradykinesia, Spastic paraparesis, Spastic tetraplegia, Rigidity	OMIM:615643
Diamond-Blackfan Anemia 1	Webbed neck, Renal hypoplasia, Increased mean corpuscular volume, Failure to thrive, Persistence ...	OMIM:105650
Spinocerebellar Ataxia 2	Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri...	OMIM:183090
Ogden Syndrome	Low-set ears, Palpebral thickening, Diarrhea, Facial wrinkling, Recurrent otitis media, Hyperbili...	OMIM:300855
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Low-set ears, Diarrhea, Lipid accumulation in hepatocytes, Feeding difficulties in infancy, Arrhy...	OMIM:608836
Machado-Joseph Disease	Spasticity, Facial-lingual fasciculations, Fasciculations, Limb ataxia, Rigidity, Abnormality of ...	OMIM:109150
Lopes-Maciel-Rodan Syndrome	Spasticity, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Bradykinesia	OMIM:617435
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema, Autoimmune hemolytic anemia, Splenomegaly, Myositis, Lymphadenopathy, Hepatomegaly, Pan...	OMIM:619183
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Epicanthus, Redundant skin	ORPHA:1779
Buratti-Harel Syndrome	Low-set ears, Bifid uvula, Recurrent pneumonia, Gastroesophageal reflux, Velopharyngeal insuffici...	OMIM:619314
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali...	ORPHA:417
Nabais Sa-De Vries Syndrome, Type 2	Low-set ears, Sparse eyebrow, Gastroesophageal reflux, Multicystic kidney dysplasia, Failure to t...	OMIM:618829
Distal Deletion 17Q	Aplasia/Hypoplasia of the uvula, Low-set, posteriorly rotated ears, Upslanted palpebral fissure, ...	ORPHA:1597
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Myoclonus, Upslanted palpebral fissure, Clumsiness, Paraparesis, Lower limb spasticit...	OMIM:617854
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia...	OMIM:308700
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Long eyelashes, Elevated circulating creatinine concentration, Recurrent...	OMIM:301110
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat...	OMIM:604117
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Vomiting, Pancreatitis, Abdominal pain, Microtia	OMIM:620137
Fanconi Anemia, Complementation Group D2	Low-set ears, Hearing impairment, Pancytopenia, Cryptorchidism, Anemic pallor, Blepharophimosis, ...	OMIM:227646
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hypertrophic cardiomyopath...	OMIM:201475
Antisynthetase Syndrome	Aortic regurgitation, Xerostomia, Skin rash, Lack of skin elasticity, Myositis, Keratoconjunctivi...	ORPHA:81
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Hearing impairment, Intestinal lymphangiectasia, Epicanthus, Blepharophimosis, Pulmonary lymphang...	OMIM:616006
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Diarrhea, Hearing impairment, Heparan sulfate excre...	OMIM:252920
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level	OMIM:612126
Combined Oxidative Phosphorylation Deficiency 47	Low-set ears, Cataract, Elevated circulating hepatic transaminase concentration, Failure to thriv...	OMIM:618958
Coffin-Siris Syndrome 8	Ptosis, Long eyelashes, Thick eyebrow, Cryptorchidism	OMIM:618362
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Bradykinesia, Limb hypertonia, Hypertonia, Parkinsonism	OMIM:617384
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Hypothyroidism, Congenital, Nongoitrous, 4	Dry skin	OMIM:275100
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Cryptorchidism, Scleritis, Abnormal nasolacrimal system morphology, Absent eyebrow, Hyp...	ORPHA:2273
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:542323
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
20Q13.33 Microdeletion Syndrome	Highly arched eyebrow, Hematochezia, Growth delay, Downslanted palpebral fissures, Failure to thr...	ORPHA:261311
Hatipoglu Immunodeficiency Syndrome	Atopic dermatitis, Eczematoid dermatitis, Failure to thrive, Downslanted palpebral fissures, Recu...	OMIM:620331
Nephronophthisis	Anemia	ORPHA:655
Adult-Onset Nemaline Myopathy	Paraproteinemia, Bradykinesia	ORPHA:171442
Galactosemia Ii	Prolonged neonatal jaundice, Galactosuria, Hypergalactosemia	OMIM:230200
Complement Component 4A Deficiency	Purpura, Glomerulonephritis, Systemic lupus erythematosus	OMIM:614380
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Failure to thrive, Ascites, Elevated circulating aspartate aminotransferase conc...	OMIM:617049
Familial Cold Urticaria	Conjunctivitis, Pruritus, Arthritis	ORPHA:47045
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi...	ORPHA:398069
Mosaic Variegated Aneuploidy Syndrome 1	Low-set ears, Multicystic kidney dysplasia, Postnatal growth retardation, Cryptorchidism, Epicant...	OMIM:257300
Thyroid Dyshormonogenesis 1	Dry skin	OMIM:274400
Baralle-Macken Syndrome	Striae distensae, Upslanted palpebral fissure	OMIM:619255
Peroxisome Biogenesis Disorder 14B	Dry skin, Hydrocele testis	OMIM:614920
Retinitis Pigmentosa 59	Elevated circulating hepatic transaminase concentration, Failure to thrive, Intrauterine growth r...	OMIM:613861
Mucopolysaccharidosis Type 7	Hepatitis, Lymphedema, Ascites, Abnormal pleura morphology, Splenomegaly, Mucopolysacchariduria, ...	ORPHA:584
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Ventricular septal defect, Atrial ...	ORPHA:97214
Familial Cold Autoinflammatory Syndrome 3	Allergic rhinitis, Erythema, Recurrent otitis media, Hashimoto thyroiditis, Antinuclear antibody ...	OMIM:614468
Congenital Disorder Of Glycosylation, Type Ia	Diarrhea, Hepatic steatosis, Feeding difficulties in infancy, Hepatomegaly, Nephrotic syndrome, P...	OMIM:212065
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Acquired Partial Lipodystrophy	Decreased circulating complement C3 concentration, Hepatic steatosis, Lymphocytosis	ORPHA:79087
Blau Syndrome	Nephropathy, Erythema, Xerostomia, Dry skin, Synovitis, Iridocyclitis, Erythema nodosum, Abnormal...	ORPHA:90340
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Facial edema, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splen...	OMIM:618398
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Familial Mediterranean Fever	Nephropathy, Erythema, Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstructi...	ORPHA:342
Craniofacial Microsomia 2	Bifid uvula, Microtia, first degree, Microtia, third degree, Microtia, second degree, Submucous c...	OMIM:620444
Blepharonasofacial Malformation Syndrome	Sparse lateral eyebrow, Telecanthus, Redundant skin, Cryptorchidism, Epicanthus, Blepharophimosis...	ORPHA:1252
Dermatitis Herpetiformis	Erythema, Eczematoid dermatitis, Microcytic anemia, Abnormality of the thyroid gland, Autoimmunit...	ORPHA:1656
Grfoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97261
Vexas Syndrome	Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Childhood-Onset Nemaline Myopathy	Clumsiness, Bradykinesia, Ptosis, Slender build	ORPHA:171439
Fetal Minoxidil Syndrome	Cryptorchidism	ORPHA:1918
Infantile Digital Fibromatosis	Parakeratosis, Epidermal acanthosis, Hyperkeratosis	ORPHA:199267
Mitral Valve Prolapse 1	Striae distensae	OMIM:157700
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Dry skin, Cryptorchidism, Hirsutism, Low anterior hairline, Broad eyebrow,...	OMIM:619244
Fryns Syndrome	Low-set ears, Hypospadias, Abnormal helix morphology, Chylothorax, Polysplenia, Bifid scrotum, La...	OMIM:229850
Stormorken-Sjaastad-Langslet Syndrome	Abnormality of thrombocytes, Purpura, Anemia, Asplenia, Short stature	ORPHA:3204
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu...	OMIM:613489
Zellweger Syndrome	Clitoral hypertrophy, Hepatic failure, Multicystic kidney dysplasia, Failure to thrive, Primary a...	ORPHA:912
Crigler-Najjar Syndrome, Type Ii	Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa...	OMIM:606785
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, ...	OMIM:615482
Shwachman-Diamond Syndrome 1	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Per...	OMIM:260400
Kasabach-Merritt Phenomenon	Abdominal distention, Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal ly...	ORPHA:2330
Proximal 16P11.2 Microduplication Syndrome	Sparse eyebrow, Decreased body mass index, Failure to thrive, Sparse eyelashes, Bipolar affective...	ORPHA:370079
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level, Tremor,...	OMIM:617744
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Neuroendocrine neoplasm, Ascite...	ORPHA:100086
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Low posterior hairline, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Ogden Syndrome	High, narrow palate, Low-set ears, Cardiogenic shock, Downslanted palpebral fissures, Postnatal g...	ORPHA:276432
Necrobiosis Lipoidica	Erythema, Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma, ...	ORPHA:542592
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Dubin-Johnson Syndrome	Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality	OMIM:237500
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o...	OMIM:618086
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Type I diabetes mellitus, Cryptorchidism, Sensorineural hearing impairment, Proteinu...	ORPHA:1192
Kindler Epidermolysis Bullosa	Cheilitis, Inflammation of the large intestine, Erythema, Periodontitis, Conjunctivitis, Ectropio...	ORPHA:2908
Pulmonary Arteriovenous Malformation	Bacterial endocarditis, Brain abscess, Gastrointestinal infarctions, Pulmonary hemorrhage, Hemoth...	ORPHA:2038
Ppoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97278
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu...	ORPHA:732
Immunodeficiency 59 And Hypoglycemia	Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Herpes simplex encephaliti...	OMIM:233600
Fadd-Related Immunodeficiency	Hepatic fibrosis, Pulmonary artery atresia, Autoimmune antibody positivity, Decreased liver function	ORPHA:306550
Inherited Creutzfeldt-Jakob Disease	Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia...	ORPHA:282166
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Skin ulcer	ORPHA:2028
Noonan Syndrome 5	Sparse eyebrow, Small nail, Fine hair, Dry skin, Cryptorchidism, Curly hair	OMIM:611553
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:333
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Hemosiderinuria, Jaundice, Dysphagia, Acute kidney injury, ...	ORPHA:447
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Vomiting, Growth delay, Failure to thrive, Concentric hypertrophic cardiomyopath...	OMIM:252010
Neurofibromatosis-Noonan Syndrome	Abnormal helix morphology, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Low-set, ...	ORPHA:638
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ...	ORPHA:363654
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Urinary incontinence, Intrauterine growth retardation, Gastrointestinal hemorrhage, Feeding diffi...	OMIM:620368
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Recurrent pneumonia, Rhizomelia, Failure to thrive, Respiratory distress, Cryptorc...	OMIM:607143
Hypothyroidism, Congenital, Nongoitrous, 7	Decreased circulating T4 concentration, Lethargy, Short stature, Growth delay, Reduced TSH respon...	OMIM:618573
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Li-Campeau Syndrome	Downslanted palpebral fissures, Telecanthus, Thick eyebrow, Cryptorchidism, Hypothyroidism, Ptosi...	OMIM:619189
6Q16 Microdeletion Syndrome	Low-set ears, Obesity, Thick eyebrow, Upslanted palpebral fissure, Almond-shaped palpebral fissur...	ORPHA:171829
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Diarr...	ORPHA:71212
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Low-set ears, Abnormal B cell morphology, Conductive hearing impairment, Recurrent otitis media, ...	OMIM:616910
Palmoplantar Keratoderma, Punctate Type Ia	Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure	ORPHA:141179
Intellectual Developmental Disorder, Autosomal Dominant 72	Low-set ears, Renal hypoplasia, Obesity, Epicanthus, Shawl scrotum, Uplifted earlobe, Micropenis,...	OMIM:620439
Aarskog-Scott Syndrome	Downslanted palpebral fissures, Cryptorchidism, Hyperextensible skin, Epicanthus, Ptosis, Shawl s...	ORPHA:915
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Erythema migrans, Parakeratosis, Skin vesicle, Skin fragility with non-scarring blistering, Pruritus	ORPHA:158681
Ciliary Dyskinesia, Primary, 24	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:615481
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections	ORPHA:79503
Pearson Syndrome	Hearing impairment, Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Neutropenia, H...	ORPHA:699
46,Xy Sex Reversal 1	Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona...	OMIM:400044
Bachmann-Bupp Syndrome	Small nail, Dry skin, Cryptorchidism, Sparse eyelashes, Absent eyebrow, Sparse scalp hair	OMIM:619075
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Vertigo,...	ORPHA:3318
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Hepatosplenomegaly, Distal renal tubular acidosis, Anemia, Short st...	OMIM:259730
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Reduced circulating gr...	OMIM:262400
Ciliary Dyskinesia, Primary, 11	Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron...	OMIM:612649
Hermansky-Pudlak Syndrome 2	Low-set ears, Periodontitis, Enlarged platelet dense granules, Recurrent otitis media, Hepatosple...	OMIM:608233
Rotor Syndrome	Conjunctival icterus, Bilirubinuria, Hyperbilirubinemia, Abnormal circulating enzyme concentratio...	ORPHA:3111
Atrophoderma Vermiculata	Erythema, Abnormal epidermal morphology, Pruritus	ORPHA:79100
Combined Oxidative Phosphorylation Deficiency 51	Small for gestational age, Myoclonus, Rigidity, Aspiration pneumonia	OMIM:619057
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level, Cryptorchidism	ORPHA:3409
Distal Duplication 6P	Abnormal eyelash morphology, Fine hair, Dry skin, Abnormal hair quantity	ORPHA:1745
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Hemophagocytosis, Hepatosplenomegaly, Weight loss, Panniculitis	ORPHA:86884
Epidermodysplasia Verruciformis	Pustule, Seborrheic dermatitis, Recurrent skin infections	ORPHA:302
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation...	OMIM:230800
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Ohdo Syndrome, X-Linked	Low-set ears, Small scrotum, Sparse eyebrow, Hearing impairment, Downslanted palpebral fissures, ...	OMIM:300895
3-Hydroxyisobutyric Aciduria	Hypogonadotropic hypogonadism, Intrauterine growth retardation, Microtia	ORPHA:939
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Abnormality of the outer ear, Multiple bladder diverticula, Hearing impairment, Re...	ORPHA:2728
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Chronic rhinitis, Parakeratosis, Ectodermal dysplasia, Follicular hyper...	OMIM:615225
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes...	OMIM:278850
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Xerostomia, Hearing impairment, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen...	OMIM:604292
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fetalis	OMIM:619462
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle...	OMIM:601952
Acitretin/Etretinate Embryopathy	Cupped ear, Third degree atrioventricular block, Median cleft palate, Hypoplasia of the thymus, E...	ORPHA:40366
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia	OMIM:301095
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Cryptorchidism	ORPHA:486815
Gordon Syndrome	Cryptorchidism	ORPHA:376
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:615139
Amyloidosis, Hereditary Systemic 2	Nephropathy, Cholestasis, Skin rash, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephroti...	OMIM:105200
Nicolaides-Baraitser Syndrome	Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Cryptorchidism, Excessive wrink...	ORPHA:3051
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Alopecia, Small nail, Abnormal hair morphology, External genital hypoplasia, Thin nail,...	OMIM:242100
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Downslanted palpebral fissures, Low-set, posteriorly rotated ears, Epicanthus, Ectopic anus, Abno...	ORPHA:2994
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism, Parapar...	OMIM:606693
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to...	OMIM:606324
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Bronchiectasis	ORPHA:2375
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Acute hepatic failure, Hepatic s...	OMIM:256810
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic...	ORPHA:169090
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep...	OMIM:232220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Periodontitis, Xanthelasma, Prolonged bleeding fol...	ORPHA:79259
Alopecia-Intellectual Disability Syndrome 4	Erythroderma	OMIM:618840
Yellow Fever	Diarrhea, Pancreatic hyperplasia, Hyperbilirubinemia, Elevated circulating alanine aminotransfera...	ORPHA:99829
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Shwachman-Diamond Syndrome 2	Normocytic anemia, Low-set ears, Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, ...	OMIM:617941
Parkinsonism-Dystonia 1, Infantile-Onset	Chorea, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movements, Parkinsonism, Abnormal pyram...	OMIM:613135
Monosomy 13Q34	Hematochezia, Epistaxis, Horizontal eyebrow, Growth delay, Abnormal earlobe morphology, Downslant...	ORPHA:96168
Absence Of Fingerprints-Congenital Milia Syndrome	Hypohidrosis, Skin rash	ORPHA:1658
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias	ORPHA:141333
Congenital Heart Block	Oligohydramnios, Pleural effusion, Peripheral edema, Pallor, Endocardial fibroelastosis, Patent f...	ORPHA:60041
Peroxisome Biogenesis Disorder 7A (Zellweger)	Low-set ears, Elevated circulating hexacosanoic acid concentration, Elevated circulating tetracos...	OMIM:614872
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am...	OMIM:612702
Deeah Syndrome	Low-set ears, Hearing impairment, Cryptorchidism, Chronic constipation, Decreased body weight, De...	OMIM:619004
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Reduced circulating complement concentration, Hepat...	ORPHA:79237
Martin-Probst Syndrome	Low-set ears, Bifid scrotum, Pancytopenia, Telecanthus, Renal insufficiency, Cryptorchidism, Sens...	OMIM:300519
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Ptosis, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ...	OMIM:614929
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Low-set ears, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary l...	OMIM:265380
Beta-Ketothiolase Deficiency	Hypotension, Diarrhea, Vomiting, Ketonuria, Anorexia, Leukocytosis, Pallor, Tachypnea, Weight los...	ORPHA:134
Pontocerebellar Hypoplasia, Type 6	Gastroesophageal reflux, Failure to thrive, Apnea, Lethargy, Narrow palate, Feeding difficulties,...	OMIM:611523
Tetralogy Of Fallot	Cryptorchidism	ORPHA:3303
Idiopathic Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr...	ORPHA:95717
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Upslanted palpebral fissure, Hypoplastic lacrimal duct, Cryptorchidism, Absent lacrimal punctum	OMIM:273390
Autosomal Dominant Dopa-Responsive Dystonia	Rheumatoid arthritis, Postural tremor, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor...	ORPHA:98808
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Dubowitz Syndrome	Hearing impairment, Abnormal female external genitalia morphology, Dry skin, Postnatal growth ret...	ORPHA:235
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Sparse eyelashes, Absent eyelashes, Punctate keratitis, Erythroderma	OMIM:602540
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased body weight, Bronchiectasis, Decreased proportion of CD4-positive T cells	ORPHA:477814
Hydroxykynureninuria	Jaundice, Elevated urinary 3-hydroxykynurenine level, Vomiting, Elevated urinary xanthurenic acid...	OMIM:236800
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Parkinsonism, Bradykinesia	ORPHA:412066
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Jung Syndrome	Low posterior hairline, Dry skin	ORPHA:2321
Diarrhea 10, Protein-Losing Enteropathy Type	Low-set ears, Hypoalbuminemia, Recurrent upper respiratory tract infections, Hematochezia, Secret...	OMIM:618183
Laryngeal Neuroendocrine Tumor	Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Chronic noninfecti...	ORPHA:100083
Non-Distal Duplication 10Q	Cryptorchidism, Blepharophimosis, Downslanted palpebral fissures	ORPHA:1695
Histiocytosis-Lymphadenopathy Plus Syndrome	Hearing impairment, Hepatosplenomegaly, Mitral valve prolapse, Sensorineural hearing impairment, ...	OMIM:602782
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Goiter, Leukocytosis, Hashimoto thyroiditis, Hyponatremia, Thrombocytopenia	ORPHA:83601
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Multicystic kidney dysplasia, Failure to thrive, Intestina...	ORPHA:2538
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Bifid uvula, Highly arched eyebrow, Underdeveloped superior crus of antihelix, Insulin-resistant ...	ORPHA:293967
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Low-set ears, Severe short stature, Eczematoid dermatitis, Bilateral cryptorchidism, Decreased re...	OMIM:618336
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Disproportionate short-trunk short stature, Neutropenia, Nephrotic syn...	OMIM:242900
Chromosome 15Q26-Qter Deletion Syndrome	Micropenis, Hypospadias, Cryptorchidism, Blepharophimosis	OMIM:612626
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat...	OMIM:300310
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia	OMIM:274240
Xeroderma Pigmentosum Variant	Dry skin	ORPHA:90342
White Sponge Nevus 2	Epidermal acanthosis, Edema, Hyperparakeratosis	OMIM:615785
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Low-set ears, Hearing impairment, Downslanted palpebral fissures, Obesity, Chronic constipation, ...	OMIM:619056
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Renal Nutcracker Syndrome	Varicocele, Infertility, Renal artery stenosis, Dysmenorrhea, Hematuria, Nausea, Vulval varicose ...	ORPHA:71273
Dpm1-Cdg	High, narrow palate, Hepatic fibrosis, Diarrhea, Elevated circulating hepatic transaminase concen...	ORPHA:79322
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ...	OMIM:613573
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric...	OMIM:231680
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure	ORPHA:141184
Penoscrotal Transposition	Penoscrotal transposition, Epicanthus, Shawl scrotum, Hypospadias, Abnormal external genitalia	ORPHA:2842
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Psoriasiform dermatitis, Nausea and vomiting, Hematuria, Weight loss, Retro...	ORPHA:49041
Porphyria Cutanea Tarda, Type I	Eczematoid dermatitis	OMIM:176090
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Cutis laxa, Redundant skin	ORPHA:91135
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Gastroesophageal reflux, ...	ORPHA:363705
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Loeffler Endocarditis	Eosinophilia, Pericarditis	ORPHA:75566
De Sanctis-Cacchione Syndrome	Keratitis, Bilateral cryptorchidism, Sensorineural hearing impairment, Telangiectasia, Parakerato...	OMIM:278800
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Abnormal bleeding, Bruising susceptibility, Hematuria, Subarachno...	OMIM:185070
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Dilated cardio...	OMIM:614921
Olmsted Syndrome 2	Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Pr...	OMIM:619208
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Ciliary Dyskinesia, Primary, 34	Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis	OMIM:617091
Spinocerebellar Ataxia 10	Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyr...	OMIM:603516
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, Congenital t...	OMIM:300367
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Microcytic anemia, Gastrointestinal infarctions, Skin rash, Prolon...	ORPHA:1059
Parkinson Disease 17	Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Dravet Syndrome	Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Progressive gait ataxia, P...	ORPHA:33069
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Lack of skin elasticity	ORPHA:1979
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased circulating complement factor B concentration, Acute kidney injury, Diarrhea, Anuria, M...	OMIM:235400
Scarf Syndrome	Bifid scrotum, Downslanted palpebral fissures, Cryptorchidism, Epicanthus, Hypoplastic nipples, P...	OMIM:312830
Early Myoclonic Encephalopathy	Lethargy, Dysphagia, Feeding difficulties, Poor suck	ORPHA:1935
Trehalase Deficiency	Abdominal pain, Diarrhea	OMIM:612119
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Pancreatic cysts, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Seborrheic...	OMIM:274000
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism	OMIM:612370
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Abnormality of the spleen, Cryptorchidism, Hepatic...	ORPHA:1606
Factor Vii And Factor Viii, Combined Deficiency Of	Intestinal bleeding	OMIM:134430
Mehmo Syndrome	External genital hypoplasia, Cryptorchidism, Micropenis, Hypoplasia of penis, Diabetes mellitus	ORPHA:85282
Central Diabetes Insipidus	Diarrhea, Depression, Failure to thrive, Nocturia, Nausea and vomiting, Lethargy, Weight loss, An...	ORPHA:178029
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Sensorineural hearing i...	OMIM:203800
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Gastroesophageal reflux, Failure to thrive, Chronic constipation, Sensorineural hearing impairmen...	OMIM:616577
Gaucher Disease Type 2	Respiratory distress, Splenomegaly, Hepatomegaly, Cardiac arrest, Dysphagia	ORPHA:77260
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Cardiomyopathy, Splenomegaly, Macrocytic anemia, Sensorineural hearing impairm...	OMIM:619046
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Uterine neoplasm, Pituitary adenoma, Depression, Pancreatic adenocar...	ORPHA:440437
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis	OMIM:618648
Aicardi-Goutières Syndrome	Low-set ears, Neonatal alloimmune thrombocytopenia, Dry skin, Hepatosplenomegaly, Cutis marmorata...	ORPHA:51
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Dry skin, Congenital hypo...	ORPHA:226313
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Epicanthus, Ptosis, Cryptorchidism	ORPHA:2958
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Farber Lipogranulomatosis	Failure to thrive, Joint swelling, Splenomegaly, Lipogranulomatosis, Decreased acid ceramidase ac...	OMIM:228000
Dihydropyrimidine Dehydrogenase Deficiency	Failure to thrive, Elevated urinary dihydrothymine level, Lethargy, Uraciluria, Growth delay	OMIM:274270
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis	OMIM:614017
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ...	ORPHA:99750
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Low-set ears, Recurrent otitis media, Lymphopenia, Pancytopenia, Dry skin, Feeding difficulties, ...	OMIM:620654
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Primary amenorrhea, Reduced su...	OMIM:612526
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Sensorineural hearing impairment, ...	ORPHA:93476
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Spastic tetraparesis, Cholestasis, Elevated circulating aspartate aminotransfe...	OMIM:614924
Mitochondrial Complex I Deficiency, Nuclear Type 6	Vomiting, Failure to thrive, Hypertrophic cardiomyopathy, Apnea, Lethargy, Left ventricular hyper...	OMIM:618228
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia	OMIM:218800
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination	ORPHA:36387
Diabetic Embryopathy	Hearing impairment, Abnormal morphology of female internal genitalia, Low-set, posteriorly rotate...	ORPHA:1926
Zimmermann-Laband Syndrome	Bifid uvula, Cataract, Downslanted palpebral fissures, Large fleshy ears, Abnormal external genit...	ORPHA:3473
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio...	OMIM:142623
Xeroderma Pigmentosum, Complementation Group D	Cataract, Spasticity, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Entropio...	OMIM:278730
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair	ORPHA:2251
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Hepatic failure, Limb ataxia, Gait ataxi...	OMIM:616719
X-Linked Intellectual Disability, Cilliers Type	Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased...	ORPHA:163971
Hereditary Mixed Polyposis Syndrome	Hematochezia, Abnormal bleeding, Colon cancer, Endometrial carcinoma, Prostate cancer, Duodenal a...	ORPHA:157794
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Gaba-Transaminase Deficiency	Lethargy, Feeding difficulties, Downslanted palpebral fissures	OMIM:613163
Epidermolysis Bullosa Acquisita	Abdominal pain, Inflammation of the large intestine, Diabetes mellitus	ORPHA:46487
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Trichothiodystrophy 3, Photosensitive	Low-set ears, Hearing impairment, Congenital ichthyosiform erythroderma, Bilateral cryptorchidism...	OMIM:616395
Fg Syndrome Type 1	Small pituitary gland, Abnormal large intestine morphology, Gastroesophageal reflux, Cupped ear, ...	ORPHA:93932
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Rheumatoid factor positi...	ORPHA:48435
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Inflammatory abnormality of the skin, Arrhythmia, Tachypnea, Hepatomegaly, Ventricular fibrillati...	ORPHA:26793
Leukodystrophy, Hypomyelinating, 21	Hypogonadotropic hypogonadism, Cryptorchidism	OMIM:619310
Trichohepatoenteric Syndrome 2	Failure to thrive, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Small for gestational age	OMIM:614602
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Autoimmunity	OMIM:137100
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Lethargy, Weight loss, Diabetes insipidus, Growth delay	ORPHA:30925
Cree Impaired Intellectual Development Syndrome	Bifid scrotum, Downslanted palpebral fissures, Cryptorchidism, Ptosis, Hypospadias	OMIM:606851
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse scalp hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hypergonadotrop...	ORPHA:2850
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Episodic ataxia, Incoordination, Gait ataxia, Dysmetria, Hemiparesis, Ataxia, Truncal ataxia, Bra...	OMIM:601338
Ehlers-Danlos Syndrome, Classic-Like, 1	Ambiguous genitalia, female, Striae distensae, Hyperextensible skin, Bicornuate uterus, Soft skin	OMIM:606408
Neuroblastoma, Susceptibility To, 1	Elevated urinary dopamine level, Diarrhea, Elevated urinary homovanillic acid, Failure to thrive,...	OMIM:256700
Perry Syndrome	Tremor, Rigidity, Parkinsonism, Weight loss, Bradykinesia	OMIM:168605
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Vomiting, Ptosis, Apnea	OMIM:618225
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin	OMIM:617066
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to...	ORPHA:2325
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Low-set ears, Neutropenia, Jaundice, Stomatitis, Renal insufficiency, Glossitis, Pulmonary emboli...	ORPHA:79282
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Psoriasis 15, Pustular, Susceptibility To	Psoriasiform dermatitis	OMIM:616106
Peutz-Jeghers Syndrome	Intestinal bleeding, Uterine neoplasm, Gastrointestinal carcinoma, Bile duct polyp, Bloody diarrh...	OMIM:175200
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Spasticity, Spastic paraparesis, Cerebral palsy, Systemic lupus erythematosus, Abnormal c...	ORPHA:760
Sporadic Infantile Bilateral Striatal Necrosis	Recurrent upper respiratory tract infections, Resting tremor, Progressive extrapyramidal muscular...	ORPHA:225147
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in...	ORPHA:85446
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Progressive extrapyramidal muscular rigidity, Tremor, Conjunctival hyperemia, Park...	ORPHA:240071
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Chorea, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradyki...	OMIM:606159
Rin2 Syndrome	Downslanted palpebral fissures, Upper eyelid edema, Redundant skin, Cryptorchidism, Hyperextensib...	ORPHA:217335
1Q21.1 Microduplication Syndrome	Hypospadias, Cryptorchidism	ORPHA:250994
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete...	OMIM:271500
Acrogeria	Skin ulcer, Fine hair, Excessive wrinkled skin	ORPHA:2500
Alpha-Mannosidosis	Abnormal helix morphology, Hearing impairment, Generalized abnormality of skin, Type II diabetes ...	ORPHA:61
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h...	OMIM:202150
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, External genital hypoplasia, Cryptorchidism	ORPHA:363741
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Recurrent pneumonia, Splenomegaly, Downslanted palpebral fissures	OMIM:615637
Femoral-Facial Syndrome	Low-set ears, Long penis, Upslanted palpebral fissure, Cryptorchidism, Maternal diabetes, Short s...	ORPHA:1988
Juvenile Polyposis Syndrome	Hematochezia, Diarrhea, Intussusception, Failure to thrive, Duodenal adenocarcinoma, Multiple gas...	OMIM:174900
Leigh Syndrome, Nuclear	Sensorineural hearing impairment, Ptosis, Failure to thrive, Hepatocellular necrosis	OMIM:256000
Juvenile Amyotrophic Lateral Sclerosis	Chorea, Spastic diplegia, Retrocollis, Opisthotonus, Parkinsonism, Lower limb spasticity, Clonus,...	ORPHA:300605
Primary Familial Polycythemia	Epistaxis, Abnormal bleeding, Polycythemia, Vertigo, Abnormal hemoglobin, Abdominal pain	ORPHA:90042
Nasolacrimal Duct Cyst	Red eye, Chronic irritative conjunctivitis, Dacryocystocele, Corneal astigmatism, Narrow palpebra...	ORPHA:141083
Porphyria, Acute Intermittent	Diarrhea, Vomiting, Depression, Urinary retention, Dysuria, Elevated urinary delta-aminolevulinic...	OMIM:176000
Zinc Deficiency, Transient Neonatal	Eczematoid dermatitis	OMIM:608118
Maternal Uniparental Disomy Of Chromosome 4	Type I diabetes mellitus, Diarrhea, Malnutrition, Hypocholesterolemia, Abnormal erythrocyte morph...	ORPHA:96180
Livedoid Vasculopathy	Abnormality of complement system, Graves disease, Polycythemia, Abnormal circulating lipid concen...	ORPHA:542643
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Cryptorchidism	ORPHA:408
Pelizaeus-Merzbacher Disease	Spasticity, Failure to thrive in infancy, Cachexia, Ataxia, Recurrent respiratory infections, Cho...	ORPHA:702
Trisomy 4P	Thick eyebrow, Hypospadias, Cryptorchidism, Blepharophimosis	ORPHA:1738
Dystonia 16	Involuntary movements, Postural tremor, Retrocollis, Parkinsonism, Abnormal pyramidal sign, Brady...	OMIM:612067
Addison Disease	Diarrhea, Adrenal calcification, Dry skin, Nausea and vomiting, Weight loss, Anorexia, Hypoparath...	ORPHA:85138
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cataract, Erythema, Diarrhea, Vomiting, Dilated cardiomyopathy, Pancytopenia, Skin rash, Left ven...	OMIM:618321
Non-Acquired Isolated Growth Hormone Deficiency	Microphallus, Premature skin wrinkling, Delayed puberty, Abdominal obesity, Prolonged neonatal ja...	ORPHA:631
Melas	Nephropathy, Erythema, Diarrhea, Intestinal pseudo-obstruction, Type II diabetes mellitus, Sensor...	ORPHA:550
Ciliary Dyskinesia, Primary, 32	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:616481
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Abnormal pleur...	ORPHA:29207
Mucopolysaccharidosis, Type Vii	Recurrent upper respiratory tract infections, Hearing impairment, Cardiomyopathy, Recurrent otiti...	OMIM:253220
Maternal Uniparental Disomy Of Chromosome X	Low posterior hairline, Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for extern...	ORPHA:261519
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Cardiofaciocutaneous Syndrome 1	Low-set ears, Palpebral thickening, Hearing impairment, Absent eyelashes, Epicanthus, Feeding dif...	OMIM:115150
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Ptosis, Ataxia	ORPHA:1933
Sialidosis Type 2	Nephropathy, Hearing impairment, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Pedal edema	ORPHA:87876
Noonan Syndrome 1	Low-set ears, Hearing impairment, Dry skin, Cryptorchidism, Sensorineural hearing impairment, Syn...	OMIM:163950
Borjeson-Forssman-Lehmann Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Thick eyebrow, Cryptorchidism, Ptosis, Bl...	ORPHA:127
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Hypogonadism	OMIM:254000
Zollinger-Ellison Syndrome	Erythema, Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Incre...	ORPHA:913
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Polyhydramnios, Splenomegaly, Aplasia/Hypoplasia of the lungs, Hepatomegaly, Hydrops fetalis	ORPHA:2204
Tetrasomy 12P	Sparse eyebrow, Telecanthus, Upslanted palpebral fissure, Cachexia, Ptosis	ORPHA:884
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Oculopharyngodistal Myopathy	Vocal cord paresis, Progressive ptosis, Paraplegia, Weight loss, Recurrent aspiration pneumonia	ORPHA:98897
Short-Rib Thoracic Dysplasia 12	Low-set ears, Periportal fibrosis, Renal hypoplasia, Atelectasis, Ascites, Polyhydramnios, Spleno...	OMIM:269860
Multiple System Atrophy	Resting tremor, Postural tremor, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyramidal sign, Br...	ORPHA:102
Rahman Syndrome	Telecanthus, Redundant skin, Cryptorchidism	OMIM:617537
Sengers Syndrome	Cataract, Growth delay, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Premature ovari...	OMIM:212350
Currarino Syndrome	Male pseudohermaphroditism, Hypospadias, Hypoplasia of penis, Bifid scrotum	ORPHA:1552
Camptodactyly Syndrome, Guadalajara Type 1	Highly arched eyebrow, Microcornea, Low-set, posteriorly rotated ears, Telecanthus, Intrauterine ...	ORPHA:1327
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Ciliary Dyskinesia, Primary, 7	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis	OMIM:611884
Acquired Purpura Fulminans	Hepatic failure, Macular purpura, Shock, Skin rash, Internal hemorrhage, Thrombocytopenia, Prolon...	ORPHA:49566
Secretory Component Deficiency	Chronic intestinal candidiasis, Intermittent diarrhea	OMIM:269650
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Anti-granulocyte-macrophage colony stimulatin...	OMIM:610910
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos...	ORPHA:199241
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak...	OMIM:619767
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:95716
Diamond-Blackfan Anemia 5	Low-set ears, Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Short statu...	OMIM:612528
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen...	ORPHA:79127
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly	OMIM:618107
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Depression, Growth delay, Failure t...	ORPHA:90674
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Acute Liver Failure	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Diarrhea, Hepatitis...	ORPHA:90062
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Bone marrow hypocellularity, Dilated cardiomyopathy, Aplastic anemia, Oral leuk...	OMIM:613989
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Vomiting, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardio...	OMIM:600649
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Low-set ears, Narrow palate, Prominent antihelix, Supernumerary nipple, Glandular hypospadias, Re...	OMIM:604314
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice, Conjugated hyperbilirubinemia	OMIM:237550
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal helix morphology, Hearing impairment, Cryptorchidism, Ventricular septal defect, Bicuspi...	ORPHA:453499
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Secondary Short Bowel Syndrome	Diarrhea, Central hypothyroidism, Vomiting, Failure to thrive, Malnutrition, Cholestasis, Malabso...	ORPHA:95427
Wagr Syndrome	Ptosis, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus	ORPHA:893
Sjogren Syndrome	Rheumatoid arthritis, Xerostomia, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ne...	OMIM:270150
Familial Chylomicronemia Syndrome	Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi...	ORPHA:444490
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Abnormal helix morphology, Clitoral hypertrophy, Hearing impairment, Cryptorchidism...	OMIM:214100
Prieto Syndrome	Epicanthus, Ptosis, Cryptorchidism	OMIM:309610
Cockayne Syndrome	Absence of pubertal development, Cryptorchidism, Reduced subcutaneous adipose tissue, Feeding dif...	ORPHA:191
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Chylothorax, Thymus hyperplasia, Feeding difficulties in infancy, Blepharophimosis, Polyhydramnios	OMIM:619036
Angioedema, Hereditary, 8	Abdominal pain, Diarrhea, Episodic vomiting	OMIM:619367
Tufted Angioma	Anemia, Purpura, Petechiae, Thrombocytopenia	ORPHA:1063
Johanson-Blizzard Syndrome	Abnormal vagina morphology, Anteriorly placed anus, Failure to thrive, Exocrine pancreatic insuff...	ORPHA:2315
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Ptosis, Thrombocytopenia, Prolonged bleeding time, Pyloric stenosis	OMIM:188025
Atypical Werner Syndrome	Aortic valve stenosis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes me...	ORPHA:79474
Mucopolysaccharidosis, Type Iiia	Diarrhea, Hearing impairment, Heparan sulfate excretion in urine, Splenomegaly, Hepatomegaly, Asy...	OMIM:252900
Congenital Isolated Acth Deficiency	Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Decreased circulating cortisol le...	ORPHA:199296
Pemphigus Vulgaris	Autoimmunity, Weight loss, Anti-desmoglein-1 antibody positivity, Anti-desmoglein-3 antibody posi...	ORPHA:704
Coxoauricular Syndrome	Short stature, Hearing impairment, Microtia	OMIM:122780
Scedosporiosis	Pneumonia, Unusual skin infection, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Se...	ORPHA:449280
Bloom Syndrome	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Facial telangiecta...	OMIM:210900
Leopard Syndrome 3	Low posterior hairline, Dry skin, Curly hair	OMIM:613707
Pierpont Syndrome	Microcornea, Failure to thrive, Hearing impairment, Unilateral narrow palpebral fissure, Large fl...	OMIM:602342
Hermansky-Pudlak Syndrome 6	Epistaxis, Urinary incontinence, Prolonged bleeding time, Bruising susceptibility, Hearing impair...	OMIM:614075
Hurler Syndrome	Hearing impairment, Cardiomyopathy, Bilateral ptosis, Recurrent otitis media, Heparan sulfate exc...	OMIM:607014
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Bilateral conductive hearing impairment, Atresia of the external auditory canal, Pr...	OMIM:620186
Johnson Neuroectodermal Syndrome	Severe short stature, Conductive hearing impairment, Failure to thrive, Atresia of the external a...	ORPHA:2316
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Nausea and vomiting, Anemia of inadequate product...	ORPHA:91349
Fetal Hydantoin Syndrome	Epicanthus, Ptosis, Cryptorchidism, Bifid scrotum	ORPHA:1912
Granulomatous Slack Skin	Erythema, Cutis laxa, Redundant skin	ORPHA:33111
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Aplasia/Hypoplasia of the earlobes, Bifid scrotum, Anteriorly placed anus, Downslanted palpebral ...	ORPHA:1555
Chromosome 16Q22 Deletion Syndrome	Low-set ears, Highly arched eyebrow, Short palpebral fissure, Growth delay, Failure to thrive, Po...	OMIM:614541
Holocarboxylase Synthetase Deficiency	Vomiting, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, Skin rash, Lethargy, ...	OMIM:253270
Bardet-Biedl Syndrome 16	Hearing impairment, Hypogonadism, Recurrent otitis media, External genital hypoplasia, Obesity, R...	OMIM:615993
Congenital Factor V Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo...	ORPHA:326
Trehalase Deficiency	Diarrhea, Vomiting, Abnormal circulating enzyme concentration or activity, Malabsorption, Abdomin...	ORPHA:103909
Citrullinemia Type Ii	Hepatic fibrosis, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, De...	ORPHA:247585
Fabry Disease	Diarrhea, Vomiting, Lipiduria, Tenesmus, Congestive heart failure, Transient ischemic attack, Ren...	OMIM:301500
Nabais Sa-De Vries Syndrome, Type 1	Highly arched eyebrow, Hearing impairment, Downslanted palpebral fissures, Long eyelashes, Teleca...	OMIM:618828
Hypogonadotropic Hypogonadism 25 With Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-...	OMIM:618841
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Abnormal pericardium morphology, Vertigo, Gastrointestina...	ORPHA:679
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Vomiting, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Respiratory distress, Lethargy, Ta...	OMIM:614299
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces...	ORPHA:411696
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro...	ORPHA:209902
Hypobetalipoproteinemia, Familial, 1	Elevated circulating aspartate aminotransferase concentration, Hypocholesterolemia, Acanthocytosi...	OMIM:615558
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl...	ORPHA:209004
N Syndrome	Hypospadias, Cryptorchidism	OMIM:310465
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Head titubatio...	OMIM:618877
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Bilateral ptosis, Limb ataxia, Gait ataxia, Rigidity, Babinski sign, Parkinsonism, Ptosis, Trunca...	OMIM:258450
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:324964
Japanese Encephalitis	Diarrhea, Vomiting, Anorexia, Infectious encephalitis, Increased circulating antibody level, Pulm...	ORPHA:79139
Intrahepatic Cholestasis Of Pregnancy	Pruritus on foot, Abnormal circulating interleukin concentration, Elevated circulating hepatic tr...	ORPHA:69665
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Ataxia, Bradykinesia, Intenti...	OMIM:619725
Giant Cell Arteritis	Hepatic failure, Conductive hearing impairment, Hearing impairment, Skin ulcer, Double outlet rig...	ORPHA:397
Spinal Muscular Atrophy, X-Linked 2	Micropenis, Ptosis, Hypospadias, Cryptorchidism	OMIM:301830
Perlman Syndrome	High, narrow palate, Low-set ears, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism...	ORPHA:2849
Intellectual Developmental Disorder, Autosomal Dominant 43	Gastroesophageal reflux, Failure to thrive, Upslanted palpebral fissure, Chronic constipation, At...	OMIM:616977
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Adiposis Dolorosa	Sparse axillary hair, Sparse pubic hair, Dry skin	ORPHA:36397
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Low-set ears, Bifid uvula, Downslanted palpebral fissures, Long eyelashes, Obesity, Short stature...	OMIM:618089
Atypical Juvenile Parkinsonism	Involuntary movements, Resting tremor, Myoclonus, Gait ataxia, Rigidity, Abnormal pyramidal sign,...	ORPHA:391411
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615500
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Fucosidosis	Low-set ears, Hearing impairment, Oligosacchariduria, Bruising susceptibility, Failure to thrive,...	OMIM:230000
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicu...	OMIM:613987
Weiss-Kruszka Syndrome	Low-set ears, Highly arched eyebrow, Cupped ear, Hearing impairment, Horizontal crus of helix, Do...	OMIM:618619
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia, Steatorrhea	OMIM:618752
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Postural tremor, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyramidal sign, Br...	ORPHA:98933
X-Linked Intellectual Disability, Cantagrel Type	Shawl scrotum	ORPHA:85277
Diamond-Blackfan Anemia 21	Aortic regurgitation, Low-set ears, Horizontal eyebrow, Downslanted palpebral fissures, Obesity, ...	OMIM:620072
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Cataract, Gastrointestinal hemorrhage, Epistaxis, Abnormality of thrombocy...	ORPHA:79430
3Mc Syndrome 3	Highly arched eyebrow, Bifid scrotum, Cryptorchidism, Penoscrotal hypospadias, Ptosis, Blepharoph...	OMIM:248340
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Geleophysic Dysplasia 1	Aortic valve stenosis, Congestive heart failure, Upslanted palpebral fissure, Mitral stenosis, La...	OMIM:231050
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni...	OMIM:607944
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic paraplegia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hep...	ORPHA:415
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Lipodystrophy, Familial Partial, Type 7	Low-set ears, Diarrhea, Facial wrinkling, Dry skin, Cutis marmorata, Reduced subcutaneous adipose...	OMIM:606721
Biliary, Renal, Neurologic, And Skeletal Syndrome	Low-set ears, Elevated gamma-glutamyltransferase level, Unbalanced atrioventricular canal defect,...	OMIM:619534
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Gastroesophageal reflux, Microtia	OMIM:618158
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Dry skin	ORPHA:95715
Cornelia De Lange Syndrome 5	Highly arched eyebrow, Gastroesophageal reflux, Hearing impairment, Hypogonadism, Decreased testi...	OMIM:300882
Beta-Mercaptolactate Cysteine Disulfiduria	Dry skin	ORPHA:1035
20P12.3 Microdeletion Syndrome	Downslanted palpebral fissures, Epicanthus, Wolff-Parkinson-White syndrome, Short stature, Thicke...	ORPHA:261295
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Cataract, Microspherophakia, Ectopia lentis, Congestive heart failure, Str...	OMIM:608328
Neuropathy, Congenital Hypomyelinating, 3	Spasticity, Babinski sign, Cachexia, Ptosis, Epicanthus	OMIM:618186
Crigler-Najjar Syndrome	Hearing impairment, Vertigo, Abnormality of the liver, Infectious encephalitis, Lethargy, Jaundice	ORPHA:205
Alkuraya-Kucinskas Syndrome	Low-set ears, Webbed neck, Small scrotum, Pericardial effusion, Pleural effusion, Upslanted palpe...	OMIM:617822
46,Xy Sex Reversal 8	Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal	OMIM:614279
8p23.1 deletion syndrome	Cryptorchidism	DECIPHER:39
Trichinellosis	Central retinal artery occlusion, Hemiplegia, Increased circulating IgE level, Skin rash, Hemipar...	ORPHA:863
Mitochondrial Membrane Protein-Associated Neurodegeneration	Spasticity, Spastic paraparesis, Hand tremor, Rigidity, Babinski sign, Parkinsonism, Bradykinesia...	ORPHA:289560
Acrofrontofacionasal Dysostosis	Bifid scrotum, Downslanted palpebral fissures, Eyelid coloboma, Ptosis, Aplasia/Hypoplasia of the...	ORPHA:1784
Intellectual Disability, Wolff Type	Upslanted palpebral fissure, Hypospadias, Cryptorchidism	ORPHA:3080
Lujo Hemorrhagic Fever	Diarrhea, Lymphopenia, Excessive bleeding after a venipuncture, Dysphagia, Purpura, Shock, Renal ...	ORPHA:319213
Difference Of Sex Development-Intellectual Disability Syndrome	Small scrotum, Hypogonadism, Low-set, posteriorly rotated ears, Hypoplasia of penis, Microtia, Se...	ORPHA:2983
Mucolipidosis Type Ii	Thickened skin, Conductive hearing impairment, Cardiomyopathy, Hepatosplenomegaly, Oligohydramnio...	ORPHA:576
Goldberg-Shprintzen Megacolon Syndrome	Sparse eyebrow, Ptosis, Hypospadias, Bifid scrotum	ORPHA:66629
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Hyperkeratosis	OMIM:618339
Spinocerebellar Ataxia Type 1	Progressive cerebellar ataxia, Fasciculations, Chorea, Postural tremor, Dysmetria, Bradykinesia, ...	ORPHA:98755
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis	OMIM:614880
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia...	OMIM:619326
Bloom Syndrome	Abscess, Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Telangiectasia, Acute mye...	ORPHA:125
Multiple System Atrophy, Cerebellar Type	Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyram...	ORPHA:227510
Ciliary Dyskinesia, Primary, 13	Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis	OMIM:613193
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Prominent ear helix, Ankyloglossia, Mitral regurgitation, Severe failure t...	ORPHA:740
Van Maldergem Syndrome 2	Hearing impairment, Atresia of the external auditory canal, Cryptorchidism, Sensorineural hearing...	OMIM:615546
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Increased serum bile acid concentra...	OMIM:619256
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis	ORPHA:735
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, Intention tremor, Parkins...	OMIM:300623
Neutrophilic Dermatosis, Acute Febrile	Acne inversa, Panniculitis, Anemia, Elevated circulating C-reactive protein concentration, Increa...	OMIM:608068
Developmental And Epileptic Encephalopathy 92	Lethargy, Feeding difficulties	OMIM:617829
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Diarrhea, Ketonuria, Organic aciduria, Increased le...	OMIM:246450
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Gastroesophageal reflux, Recurrent otitis media, Cryptorchidism, Almond-shaped palpebral fissure,...	ORPHA:589905
Lethal Infantile Mitochondrial Myopathy	Lethargy, Renal insufficiency, Cardiomyopathy, Fatal liver failure in infancy	ORPHA:254857
Orofacial Cleft 15	Sparse eyebrow, Cryptorchidism, Upslanted palpebral fissure, Sparse eyelashes, Epicanthus, Eurybl...	OMIM:616788
X-Linked Creatine Transporter Deficiency	Chorea, Cachexia, Ptosis, Hypertonia, Ataxia, Athetosis	ORPHA:52503
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Sparse body hair, Breast hypoplasia, Non-obstructive azoospermia, Decreased te...	ORPHA:432
Autosomal Recessive Amelia	Small scrotum, Hypoplasia of penis, Cryptorchidism	ORPHA:1027
Hemolytic Anemia, Congenital, X-Linked	Jaundice, Dark urine, Hemolytic anemia	OMIM:301015
Smith-Kingsmore Syndrome	Rhizomelia, Downslanted palpebral fissures, Large for gestational age, Cryptorchidism, Thrombocyt...	OMIM:616638
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:608647
Squalene Synthase Deficiency	Dry skin, Hypospadias, Abnormality of hair pigmentation, Bilateral cryptorchidism	OMIM:618156
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Bone marrow hypocellularity, Enterocolitis, Decreased pineal volume	OMIM:301108
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Multiple rows of eyelashes, Rhizo-meso-acromelic limb shortening, Curly eyelashes, Thick eyebrow,...	ORPHA:163654
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Gray Platelet Syndrome	Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire...	OMIM:139090
Usmani-Riazuddin Syndrome, Autosomal Recessive	Conjunctival hyperemia, Epicanthus, Spasticity	OMIM:619548
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Elbow hypertrichosis, Dry skin, Long eyelashes	OMIM:620191
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair	ORPHA:1882
Mandibuloacral Dysplasia With Type A Lipodystrophy	Breast aplasia, Abnormal eyebrow morphology, Absent eyelashes, Lack of skin elasticity	ORPHA:90153
Leydig Cell Hypoplasia, Type I	Increased circulating gonadotropin level, Hypergonadotropic hypogonadism	OMIM:238320
Ileal Neuroendocrine Tumor	Increased serum serotonin, Arrhythmia, Weight loss, Abnormal bowel sounds, Functional intestinal ...	ORPHA:100078
Mmep Syndrome	Cryptorchidism	ORPHA:3434
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Van Den Bosch Syndrome	Recurrent respiratory infections, Recurrent skin infections	ORPHA:3417
9P13 Microdeletion Syndrome	Precocious puberty, Highly arched eyebrow, Dry skin, External genital hypoplasia, Thick eyebrow, ...	ORPHA:324313
Branchial Arch Syndrome, X-Linked	Cryptorchidism, Downslanted palpebral fissures	OMIM:301950
Intellectual Developmental Disorder, X-Linked 103	Micropenis, Bilateral cryptorchidism	OMIM:300982
Lymphedema-Distichiasis Syndrome	Cataract, Ectropion, Abnormality of the pulmonary vasculature, Distichiasis, Ptosis, Tubulointers...	ORPHA:33001
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Hearing impairment, Failure to thrive,...	OMIM:259700
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Bradykinesia	OMIM:619911
Megaloblastic Anemia, Folate-Responsive	Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent...	OMIM:601775
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism, Cryptorchidi...	OMIM:300869
Sialidosis Type 1	Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Vascular skin abnormality, Incre...	ORPHA:812
Congenital Disorder Of Glycosylation, Type Ib	Protein-losing enteropathy, Hepatic fibrosis, Diarrhea, Hepatic failure, Vomiting, Abnormal bleed...	OMIM:602579
Homozygous 11P15-P14 Deletion Syndrome	Generalized aminoaciduria, Diarrhea, Vomiting, Failure to thrive, Congenital sensorineural hearin...	OMIM:606528
Mucopolysaccharidosis, Type Ii	Severe short stature, Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Hearing impai...	OMIM:309900
Systemic Lupus Erythematosus	Discoid lupus rash, Antineutrophil antibody positivity, Leukopenia, Malar rash, Chorea, Anti-Sm a...	ORPHA:536
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Atresia of the external auditory canal, Cutis marmorata, Cryptorchi...	ORPHA:199
Oculoskeletodental Syndrome	Protein-losing enteropathy, Hearing impairment, Splenomegaly, Cryptorchidism, Lacunar stroke, Epi...	OMIM:618440
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Atopic dermatitis, Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferriti...	ORPHA:3240
African Trypanosomiasis	Diarrhea, Infertility, Hepatosplenomegaly, Arrhythmia, Weight loss, Apathy, Hepatomegaly, Jaundic...	ORPHA:3385
Flynn-Aird Syndrome	Cataract, Cachexia, Ataxia	ORPHA:2047
Even-Plus Syndrome	Severe short stature, Cataract, Highly arched eyebrow, Atopic dermatitis, Renal hypoplasia, Vesic...	OMIM:616854
Pparg-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Prominent veins on trunk, Hypertrophic cardiomyopathy, Hepat...	ORPHA:79083
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia	OMIM:620365
Acquired Hypertrichosis Lanuginosa	Thickened skin, Abnormal eyebrow morphology, Ichthyosis, Chronic diarrhea, Acanthosis nigricans, ...	ORPHA:2221
Mucopolysaccharidosis, Type Iiic	Diarrhea, Hearing impairment, Heparan sulfate excretion in urine, Splenomegaly, Hepatomegaly, Asy...	OMIM:252930
Congenital Myopathy 22B, Severe Fetal	Low-set ears, Pulmonary hypoplasia, Downslanted palpebral fissures, Ascites, Pleural effusion, Po...	OMIM:620369
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Abdominal pai...	ORPHA:33402
Fetal Akinesia Deformation Sequence 4	Cryptorchidism, Neonatal death	OMIM:618393
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Moyamoya Disease 6 With Or Without Achalasia	Impotence, Ischemic stroke, Hypertension, Achalasia, Raynaud phenomenon, Thrombocytopenia, Dysphagia	OMIM:615750
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo...	OMIM:614009
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Diarrhea, Increased circulating cortisol level, Abnormal...	ORPHA:99889
Intellectual Developmental Disorder, X-Linked 106	Decreased testicular size, Hypospadias, Cryptorchidism, Synophrys	OMIM:300997
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse eyebrow, Telecanthus, Cryptorchidism, Hyperextensible skin, Sparse eyelashes, Epicanthus, ...	ORPHA:75496
Fanconi Anemia	Hearing impairment, Aplasia/Hypoplasia of the uvula, Cryptorchidism, Epicanthus, Weight loss, Hig...	ORPHA:84
Mucopolysaccharidosis Type 3	Hearing impairment, Aspiration pneumonia, Urinary glycosaminoglycan excretion, Abnormal mitral va...	ORPHA:581
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
Porphyria Cutanea Tarda	Alopecia, Onycholysis, Facial hypertrichosis	OMIM:176100
Noonan Syndrome 13	Highly arched eyebrow, Hypertrichosis, Dry skin, Cryptorchidism, Low posterior hairline, Broad ey...	OMIM:619087
Incontinentia Pigmenti	Keratitis, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Eosinophilia, H...	OMIM:308300
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of complement system, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, P...	ORPHA:2348
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Cryptorchidism	ORPHA:1174
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Anasarca, Pleural effusion, Nor...	OMIM:254900
Lymphoid Interstitial Pneumonia	Lymphocytic interstitial pneumonia	OMIM:247610
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega...	OMIM:612301
Harlequin Ichthyosis	Recurrent respiratory infections, Erythroderma	ORPHA:457
Ciliary Dyskinesia, Primary, 12	Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron...	OMIM:612650
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Oral leukoplakia, Failure to thrive, Intrauterine growth retardation...	ORPHA:3322
Becker Nevus Syndrome	Hypoplastic labia minora, Abnormal scrotum morphology, Supernumerary nipple	ORPHA:64755
Aplasia Cutis Congenita	Erythema, Skin ulcer	ORPHA:1114
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Splenomegaly, Abdominal distention	OMIM:602557
Ovarian Dysgenesis 2	Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of...	OMIM:300510
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Megalocornea, Polycystic ovaries, Tachypnea, Hepatomegaly, Tachyc...	ORPHA:137675
Proteus Syndrome	Low-set ears, Thickened skin, Pulmonary cyst, Exostosis of the external auditory canal, Cachexia,...	ORPHA:744
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
20Q11.2 Microduplication Syndrome	Bifid scrotum, Downslanted palpebral fissures, Low-set, posteriorly rotated ears, Cryptorchidism,...	ORPHA:363659
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Pigmented Nodular Adrenocortical Disease, Primary, 2	Depression, Bruising susceptibility, Increased circulating cortisol level, Pigmented micronodular...	OMIM:610475
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Adult Syndrome	Absent nipple, Fair hair, Breast hypoplasia, Dry skin, Alopecia of scalp, Sparse axillary hair, H...	OMIM:103285
Klatskin Tumor	Abdominal pain, Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahe...	ORPHA:99978
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Conjunctival i...	ORPHA:529808
Hemifacial Atrophy, Progressive	Horner syndrome, Tongue atrophy, Blepharophimosis, Microtia	OMIM:141300
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote...	ORPHA:529799
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hearing impairment, Hypertrophic cardiomyopathy, Obesity, Intrauterine growth retardation, Interm...	OMIM:620270
Mgat2-Cdg	Abnormal earlobe morphology, Ventricular septal defect, Decreased lymphocyte proliferation in res...	ORPHA:79329
Carnitine Palmitoyltransferase I Deficiency	Diarrhea, Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic acidur...	OMIM:255120
Intellectual Developmental Disorder, Autosomal Dominant 1	Low-set ears, Highly arched eyebrow, Gastroesophageal reflux, Cupped ear, Postnatal growth retard...	OMIM:156200
Meier-Gorlin Syndrome 7	Low-set ears, Clitoral hypertrophy, Hearing impairment, Cryptorchidism, Decreased body weight, Ur...	OMIM:617063
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia, Microtia	OMIM:612138
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Allan-Herndon-Dudley Syndrome	Decreased body mass index, Failure to thrive in infancy, Abnormality of thyroid physiology, Polyh...	ORPHA:59
Mandibulofacial Dysostosis, Guion-Almeida Type	Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Downslanted ...	OMIM:610536
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Atresia of the external auditory canal, Gonadal dysgenesis, Downslanted palpebral fissures, Abnor...	ORPHA:1770
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Left-to-right shunt, Tachypnea, Elevated jugular veno...	ORPHA:1329
Spermatogenic Failure 14	Azoospermia, Male infertility, Round spermatid arrest	OMIM:615842
48,Xxyy Syndrome	Gastroesophageal reflux, Depression, Decreased testicular size, Azoospermia, Obesity, Apnea, Cryp...	ORPHA:10
Ddost-Cdg	Dry skin	ORPHA:300536
Bartsocas-Papas Syndrome 1	Low-set ears, Dry skin, Absent eyelashes, Hypoplastic labia majora, Cicatricial lagophthalmos, Ab...	OMIM:263650
Stt3A-Cdg	Micropenis, Small scrotum, Cryptorchidism	ORPHA:370921
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Tangier Disease	Nail dysplasia, Nail dystrophy, Dry skin	OMIM:205400
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal morphology of female internal gen...	ORPHA:538
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Honey...	ORPHA:2032
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatic necrosis, Ful...	OMIM:231530
Nijmegen Breakage Syndrome	Acute leukemia, Recurrent pneumonia, Hearing abnormality, Autoimmune hemolytic anemia, Upslanted ...	ORPHA:647
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Joint swelling, Synovitis, Knee osteoarthritis, Iridocycl...	ORPHA:85408
Hyperkeratosis Lenticularis Perstans	Skin ulcer	ORPHA:409
Teebi Hypertelorism Syndrome 1	Highly arched eyebrow, Downslanted palpebral fissures, Bilateral ptosis, Upslanted palpebral fiss...	OMIM:145420
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Ovarian neoplasm, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Treacher-Collins Syndrome	Small scrotum, Cryptorchidism, Absent eyelashes, Abnormality of the middle ear, High palate, Rect...	ORPHA:861
Chanarin-Dorfman Syndrome	Ectropion, Hepatic steatosis, Sensorineural hearing impairment, Hepatomegaly, Congenital nonbullo...	OMIM:275630
Familial Hypofibrinogenemia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding	ORPHA:101041
Familial Dysfibrinogenemia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding	ORPHA:98881
Crouzon Syndrome	Conjunctivitis, Ptosis, Iris coloboma	ORPHA:207
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Low-set ears, Postnatal growth retardation, Cardiomegaly, Tachypnea, Pulmonary arterial hypertens...	OMIM:613320
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Limb-Mammary Syndrome	Sparse eyebrow, Absent nipple, Lacrimal duct atresia, Breast aplasia, Dry skin, Psoriasiform derm...	ORPHA:69085
Silver-Russell Syndrome	Low-set ears, Precocious puberty, Abnormal male external genitalia morphology, Premature adrenarc...	ORPHA:813
Meier-Gorlin Syndrome 3	Low-set ears, Small scrotum, Clitoral hypertrophy, Hypospadias, Recurrent pneumonia, Gastroesopha...	OMIM:613803
Catifa Syndrome	Epicanthus, Developmental cataract, Cleft palate, Microtia	OMIM:618761
Congenital Arthrogryposis With Anterior Horn Cell Disease	Neonatal death, Ptosis, Cryptorchidism, Downslanted palpebral fissures	OMIM:611890
Meier-Gorlin Syndrome 1	Low-set ears, Clitoral hypertrophy, Hearing impairment, Atresia of the external auditory canal, C...	OMIM:224690
Bardet-Biedl Syndrome 2	Hypogonadism, External genital hypoplasia, Diabetes mellitus	OMIM:615981
Noonan Syndrome 6	Low-set ears, Juvenile myelomonocytic leukemia, Downslanted palpebral fissures, Bilateral ptosis,...	OMIM:613224
Autosomal Dominant Popliteal Pterygium Syndrome	Small scrotum, Popliteal pterygium, Ankyloblepharon, Bifid scrotum, Cryptorchidism, Hypoplastic l...	ORPHA:1300
Ichthyosis, X-Linked	Cryptorchidism, Testicular neoplasm	OMIM:308100
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Iron deficiency anemia, Keratoconjun...	ORPHA:309031
Congenital Disorder Of Glycosylation, Type Im	Dry skin, Alopecia, Sparse eyebrow, Sparse eyelashes	OMIM:610768
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Postencephalitic Parkinsonism	Involuntary movements, Resting tremor, Bilateral ptosis, Cogwheel rigidity, Rigidity, Babinski si...	ORPHA:97349
Distal Triplication 15Q	Low-set ears, Abnormal helix morphology, Cupped ear, Horseshoe kidney, Telecanthus, Large for ges...	ORPHA:314588
Thymic Carcinoma	Neoplasm of the thymus, Weight loss, Diaphragmatic paralysis, Palpebral edema, Mediastinal lympha...	ORPHA:99868
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Telangiectasia, Hematuria, Cirrhosis, Retinal telangiectasia, Esopha...	ORPHA:774
Infantile Krabbe Disease	Spasticity, Failure to thrive, Cherry red spot of the macula, Abnormal circulating enzyme concent...	ORPHA:206436
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Vomiting, Acute hepatic steatosis, Failure to thrive, Elevated urinary 3-methylcrotonylglycine le...	OMIM:210200
Pyruvate Dehydrogenase Deficiency	Intrauterine growth retardation, Upslanted palpebral fissure, Epicanthus, Feeding difficulties in...	ORPHA:765
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
Pyruvate Dehydrogenase E1-Alpha Deficiency	Apneic episodes precipitated by illness, fatigue, stress, Lethargy, Ptosis, Small for gestational...	OMIM:312170
Ovarian Dysgenesis 6	Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar...	OMIM:618078
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia	OMIM:603585
Tooth Agenesis, Selective, 4	Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dry skin, Dystrophic fin...	OMIM:150400
Coach Syndrome 3	Portal fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Ptosis, A...	OMIM:619113
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Pancytopenia, Leukopenia, Proteinuria, Pulmonary arter...	OMIM:613845
Adiposis Dolorosa	Painful subcutaneous lipomas, Obesity, Constipation, Abdominal distention	OMIM:103200
Weaver Syndrome	Hypoplasia of penis, Redundant skin, Cryptorchidism, Downslanted palpebral fissures	ORPHA:3447
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Decreased response to growth hormone stimulation test, Lymphocytic interstitial pneumonia	OMIM:245590
Jacobsen Syndrome	Low-set ears, Iris coloboma, Microcornea, Annular pancreas, Failure to thrive, Telecanthus, Intra...	OMIM:147791
Fanconi Anemia, Complementation Group B	Low-set ears, Aplastic anemia, Hypogonadism, Intrauterine growth retardation, Tracheoesophageal f...	OMIM:300514
Xeroderma Pigmentosum, Complementation Group A	Spasticity, Keratitis, Entropion, Ataxia, Ectropion, Conjunctivitis, Choreoathetosis	OMIM:278700
Transketolase Deficiency	Increased level of ribose in urine, Cataract, Type I diabetes mellitus, Hearing impairment, Propo...	ORPHA:488618
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Respiratory distress, Lethargy, Hepatomegaly, Cardiac arrest, High p...	OMIM:604377
Citrullinemia Type I	Hepatic failure, Vomiting, Gastroesophageal reflux, Failure to thrive, Lethargy, Tachypnea, Feedi...	ORPHA:247525
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Small scrotum, Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism	ORPHA:168593
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Hepatic fibrosis, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase l...	OMIM:617093
Keratoderma Hereditarium Mutilans	Hypogonadotropic hypogonadism, Alopecia, Abnormality of the nail, Abnormal toenail morphology	ORPHA:494
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Breast aplasia, Trichorrhexis nodosa, Aplasia/Hypoplasia of...	ORPHA:238468
Ciliary Dyskinesia, Primary, 15	Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent res...	OMIM:613808
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:614935
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Postnatal growth retardation, Cryptorchidism, Gastrostomy tube feeding in infancy, Small for gest...	ORPHA:319332
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g...	ORPHA:263665
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Hearing impairment, Increased hepatic glycogen content, Copper accumulation in liv...	OMIM:614946
Sotos Syndrome	Low-set ears, Sparse eyebrow, Gastroesophageal reflux, Conductive hearing impairment, Downslanted...	OMIM:117550
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Osteomyel...	ORPHA:171876
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Increase...	ORPHA:77261
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia...	OMIM:112200
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections	OMIM:610798
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Hereditary Orotic Aciduria	Aminoaciduria, Impaired T cell function, Downslanted palpebral fissures, Low-set, posteriorly rot...	ORPHA:30
Diarrhea 12, With Microvillus Atrophy	Vomiting, Bronchiectasis, Secretory diarrhea, Respiratory tract infection	OMIM:619445
Distal Deletion 12Q	Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Ectopic kidney, Polyc...	ORPHA:96149
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	Decreased LDL cholesterol concentration, Acanthocytosis, Dysphagia	OMIM:607236
Stankiewicz-Isidor Syndrome	Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis, Hypospadias	OMIM:617516
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Foxp1 Syndrome	Hypoplastic helices, Decreased circulating iron concentration, Recurrent upper respiratory tract ...	ORPHA:391372
Erythrocytosis, Familial, 2	Hypotension, Elevated circulating erythropoietin concentration, Failure to thrive, Increased hema...	OMIM:263400
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis, Sensorineural hearing impairment	ORPHA:2202
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism	ORPHA:1381
Thyroid Hemiagenesis	Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ...	ORPHA:95719
Faundes-Banka Syndrome	Low-set ears, Long ear, Cryptorchidism, Chronic constipation, Epicanthus, Feeding difficulties in...	OMIM:619376
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Abnormal circulating enzyme concentration or activity, Myoclonus, Eyelid myoclonu...	ORPHA:2590
Hypermanganesemia With Dystonia 2	Spasticity, Tremor, Ankle clonus, Opisthotonus, Babinski sign, Parkinsonism, Clumsiness, Scissor ...	OMIM:617013
Insulin-Resistance Syndrome Type A	Type II diabetes mellitus, Delayed puberty, Hyperkeratosis	ORPHA:2297
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Leuk...	OMIM:615673
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Facial edema, Minimal change glomerulonephritis, Hypoalbuminemia, Chronic kidney disease, Focal s...	ORPHA:567546
3-Methylglutaconic Aciduria, Type Viib	Cataract, Recurrent pneumonia, Rhizomelia, Abnormal bleeding, Congestive heart failure, Respirato...	OMIM:616271
Chromosome 1P35 Deletion Syndrome	Hearing impairment, Congenital hypothyroidism, Anterior creases of earlobe, Intrauterine growth r...	OMIM:617930
Mass Syndrome	Striae distensae	OMIM:604308
Braddock-Carey Syndrome 2	Atresia of the external auditory canal, Hearing impairment, Downslanted palpebral fissures, Throm...	OMIM:619981
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Hepatic failure, Nephrocalcinosis, Abdominal distention, ...	ORPHA:2088
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Bone marrow hypocellularity, Eczematoid dermatitis, Hearing impairment, Congestive hear...	ORPHA:508542
Autosomal Dominant Progressive External Ophthalmoplegia	Hearing impairment, Arrhythmia, Bradykinesia, Dysphagia, Cataract, Gastroesophageal reflux, Depre...	ORPHA:254892
Ciliary Dyskinesia, Primary, 51	Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:620438
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o...	ORPHA:90796
Onychotrichodysplasia And Neutropenia	Curly eyelashes, Chronic irritative conjunctivitis, Lymphocytosis, Neutropenia, Chronic neutropen...	OMIM:258360
Jacobsen Syndrome	Aortic valve stenosis, Aplasia/Hypoplasia of the earlobes, Multicystic kidney dysplasia, Cryptorc...	ORPHA:2308
Radiation Proctitis	Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ...	ORPHA:70475
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Polysplenia, Otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent ...	OMIM:613807
Pseudohypoparathyroidism Type 1B	Cataract, Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid h...	ORPHA:94089
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Bifid scrotum, Abnormal morphology of f...	ORPHA:887
Adrenal Hypoplasia, Congenital	Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ...	OMIM:300200
Cog5-Cdg	Low-set ears, Urinary incontinence, Elevated circulating hepatic transaminase concentration, Prem...	ORPHA:263487
Premature Ovarian Failure 10	Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ov...	OMIM:612885
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Growth delay, Anteriorly placed anus, Downslanted palpebral fissure...	OMIM:619980
Multiple Endocrine Neoplasia Type 2	Diarrhea, Cervical neoplasm, Elevated urinary vanillylmandelic acid, Elevated urinary catecholami...	ORPHA:653
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Congestive heart failure, Elevated circulating aspartate aminotransferase conc...	OMIM:619048
Acute Adrenal Insufficiency	Diarrhea, Dry skin, Nausea and vomiting, Weight loss, Anorexia, Renal salt wasting, Abdominal pai...	ORPHA:95409
Anti-Glomerular Basement Membrane Disease	Anemia, Autoimmunity, Purpura, Arthritis	ORPHA:375
Rothmund-Thomson Syndrome Type 1	Diarrhea, Aplastic anemia, Cryptorchidism, Telangiectasia, Neutropenia, Leukemia, Premature ovari...	ORPHA:221008
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Pleural effusion, Constrictive pericar...	OMIM:602248
Meckel Syndrome, Type 8	Low-set ears, Ambiguous genitalia, Abdominal distention, Pericardial effusion, Polycystic kidney ...	OMIM:613885
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Hypoplastic male external genitalia, Cryptorchidism	OMIM:618823
Seizures, Cortical Blindness, And Microcephaly Syndrome	Bronchiectasis	OMIM:616632
Pierpont Syndrome	Telecanthus, Excessive wrinkling of palmar skin, Cryptorchidism, Narrow palpebral fissure	ORPHA:487825
Leprechaunism	Low-set ears, Thickened skin, Clitoral hypertrophy, Hyperinsulinemia, Reduced subcutaneous adipos...	ORPHA:508
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Atrichia, Decreased testicular size, External genital hypoplasia, Nail dystrophy, Crypt...	ORPHA:1867
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Myoclonus, Ataxia, Recurrent aspiration pneumonia, Erratic myoclonus, Spastic tetraplegia	OMIM:619971
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Immunodeficiency 55	Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Dry skin, Lymphadenopathy, Neutr...	OMIM:617827
Congenital Disorder Of Glycosylation, Type Il	Low-set ears, Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Splenomegaly, Atr...	OMIM:608776
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	High anterior hairline, Horizontal eyebrow, Dry skin, Thick eyebrow, Low anterior hairline	OMIM:618797
Meier-Gorlin Syndrome 5	Low-set ears, Gastroesophageal reflux, Failure to thrive, Intrauterine growth retardation, Crypto...	OMIM:613805
Catastrophic Antiphospholipid Syndrome	Pulmonary embolism, Skin ulcer, Microangiopathic hemolytic anemia, Arterial occlusion, Gastrointe...	ORPHA:464343
Pouchitis	Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A...	ORPHA:217067
Ring Chromosome 22 Syndrome	Edema, Lymphedema, Azoospermia, Thick eyebrow, Pleural effusion, Epicanthus, Macrotia	ORPHA:1446
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S...	ORPHA:129
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dry skin	OMIM:618010
Tarp Syndrome	Low-set ears, Short palpebral fissure, Hepatic failure, Meckel diverticulum, Subdural hemorrhage,...	OMIM:311900
Choreoacanthocytosis	Blepharospasm, Dilated cardiomyopathy, Increased circulating lactate dehydrogenase concentration,...	ORPHA:2388
Arboleda-Tham Syndrome	Low-set ears, Recurrent otitis media, Underdeveloped tragus, Epicanthus, Dysphagia, Chronic otiti...	OMIM:616268
Isaacs Syndrome	Weight loss, Fasciculations	ORPHA:84142
Cutaneous Collagenous Vasculopathy	Petechiae, Erythema, Pruritus, Skin rash	ORPHA:280779
Icf Syndrome	Lymphopenia, Protruding tongue, Anemia, Macroglossia, Abnormality of neutrophils, Decreased circu...	ORPHA:2268
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Hajdu-Cheney Syndrome	Low-set ears, Thickened skin, Aortic valve stenosis, Periodontitis, Hearing impairment, Skin ulce...	ORPHA:955
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding	OMIM:600195
X-Linked Intellectual Disability, Cabezas Type	Abnormal earlobe morphology, Downslanted palpebral fissures, Hypogonadism, Decreased testicular s...	ORPHA:85293
Chromosome 3Pter-P25 Deletion Syndrome	Low-set ears, Highly arched eyebrow, Gastroesophageal reflux, Hearing impairment, Postnatal growt...	OMIM:613792
Anonychia With Flexural Pigmentation	Follicular hyperkeratosis, Hyperkeratosis, Macular telangiectasia	ORPHA:69125
Overlap Myositis	Rheumatoid arthritis, Abnormal circulating lipid concentration, Leukopenia, Elevated circulating ...	ORPHA:206572
Hyperlipoproteinemia, Type I	Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ...	OMIM:238600
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Cryptorchidism	OMIM:601794
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyop...	ORPHA:156
Ring Chromosome 10 Syndrome	Cachexia, Downslanted palpebral fissures	ORPHA:1438
Bronchial Neuroendocrine Tumor	Pneumonia, Abnormal pulmonary valve cusp morphology, Hepatic failure, Increased serum serotonin, ...	ORPHA:97287
Gilbert Syndrome	Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration, Unconjugated ...	OMIM:143500
Acquired Methemoglobinemia	Vomiting, Vertigo, Respiratory distress, Palpitations, Methemoglobinemia, Arrhythmia, Abdominal p...	ORPHA:464453
Schilbach-Rott Syndrome	Bifid uvula, Upslanted palpebral fissure, Submucous cleft hard palate, Epicanthus, Posteriorly ro...	OMIM:164220
Developmental And Epileptic Encephalopathy 70	Cryptorchidism	OMIM:618298
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Small scrotum, Thick eyebrow, Cryptorchidism, Epicanthus, Synophrys	ORPHA:1970
Microphthalmia, Syndromic 12	Bicornuate uterus, Cryptorchidism, Neonatal death	OMIM:615524
Craniofrontonasal Dysplasia	Hypospadias, Shawl scrotum, Downslanted palpebral fissures	ORPHA:1520
Dowling-Degos Disease	Skin vesicle, Scrotal hyperpigmentation, Penile freckling	ORPHA:79145
Nephroblastoma	Aniridia, Neoplasm of the liver, Weight loss, Lymphadenopathy, Neoplasm of the lung	ORPHA:654
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Dystrophic toenail, Decreased number of sweat glands, Dry skin, Fragile...	ORPHA:69087
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Low-set ears, Cupped ear, Downslanted palpebral fissures, Persistence of hemoglobin F, Epicanthus...	OMIM:617101
Phoar2-Enteropathy Syndrome	Seborrheic dermatitis, Acne	OMIM:614441
Distal Duplication 15Q	Downslanted palpebral fissures, Abnormal female external genitalia morphology, Cryptorchidism, Pt...	ORPHA:1707
Erythrokeratodermia Variabilis Et Progressiva 5	Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617756
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Autosomal Recessive Cutis Laxa Type 1	Dermatochalasis, Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Small ...	ORPHA:90349
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Fine hair, Supernumerary nipple, Dry skin, Cryptorchidism, Aplastic/hypoplastic toenail, Aplasia/...	ORPHA:1812
Recessive Dystrophic Epidermolysis Bullosa Inversa	Esophageal stricture, Stenosis of the external auditory canal, Vaginal stricture, Urethral strict...	ORPHA:79409
Rothmund-Thomson Syndrome, Type 3	Sparse eyebrow, Telecanthus, Decreased body weight, Anisopoikilocytosis, Anemia, Small for gestat...	OMIM:615789
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Splenomegaly, H...	OMIM:239200
Nijmegen Breakage Syndrome	Recurrent pneumonia, Anal stenosis, Recurrent otitis media, Recurrent infection of the gastrointe...	OMIM:251260
Bardet-Biedl Syndrome 8	Hypogonadism, Hypospadias	OMIM:615985
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Acute leukemia, Abnormal stomach morphology, Hypogonadism, Renal insuf...	ORPHA:281090
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia, Spastic tetraplegia, Downslanted palpebral fissures	ORPHA:371364
Cholestasis, Benign Recurrent Intrahepatic, 1	Hearing impairment, Intermittent jaundice, Increased serum bile acid concentration, Pancreatitis,...	OMIM:243300
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair	ORPHA:2985
Glut1 Deficiency Syndrome 1	Paroxysmal lethargy, Lethargy	OMIM:606777
Rh-Null, Regulator Type	Jaundice, Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia	OMIM:268150
Niemann-Pick Disease Type C	Fetal ascites, Hepatic failure, Hearing impairment, Aspiration pneumonia, Ascites, Hepatosplenome...	ORPHA:646
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Persistent fetal ci...	OMIM:618775
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis, Cutaneous photosensitivity	ORPHA:1336
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Gonadal dysgenesis, Hypogonadism, Downslanted palpebral fissures, Cryptorchid...	ORPHA:3306
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties	OMIM:616809
Post-Traumatic Pituitary Deficiency	Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased testicular s...	ORPHA:95619
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilate...	ORPHA:367
Zechi-Ceide Syndrome	Low-set ears, Short palpebral fissure, Abnormal helix morphology, Conductive hearing impairment, ...	ORPHA:217017
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Vomiting, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Letha...	OMIM:143880
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Gastroesophageal reflux, Hearing impairment, Downslanted palpebral fissures, Long eyelashes, Obes...	OMIM:620250
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Failure to thrive, Exocrine pancreatic insufficiency, Mild postnatal growth retardation, Sensorin...	ORPHA:456312
3-Methylglutaconic Aciduria, Type Viia	Anemia, 3-Methylglutaconic aciduria, Neutropenia, Anisopoikilocytosis	OMIM:619835
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig...	OMIM:600116
Fraser Syndrome 2	Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Atresia of the external auditory canal...	OMIM:617666
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur...	OMIM:615577
Congenital Disorder Of Glycosylation, Type Ie	Elevated circulating hepatic transaminase concentration, Failure to thrive, Downslanted palpebral...	OMIM:608799
Autosomal Recessive Spastic Paraplegia Type 77	Progressive spastic paraplegia, Myoclonus, Babinski sign, Scissor gait, Lower limb spasticity, Pt...	ORPHA:466722
Isolated Hemihyperplasia	Cryptorchidism	ORPHA:2128
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp	OMIM:136300
Chung-Jansen Syndrome	Thick eyebrow, Upslanted palpebral fissure, Cryptorchidism, Epicanthus, Synophrys	OMIM:617991
Malt Lymphoma	Posterior uveitis, Abnormality of the thyroid gland, Nausea and vomiting, Abnormal nasolacrimal s...	ORPHA:52417
Sialuria	Low-set ears, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatosple...	ORPHA:3166
Familial Cervical Artery Dissection	Striae distensae	ORPHA:36382
Matthew-Wood Syndrome	Low-set ears, Renal hypoplasia, Annular pancreas, Failure to thrive, Abnormality of the uterus, D...	ORPHA:2470
Distal Deletion 9P	High, narrow palate, Aplasia/Hypoplasia of the earlobes, Abnormal helix morphology, Low-set, post...	ORPHA:1642
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal epidermal morphology, Cleft palate, Abnormal mast cell morphology	ORPHA:398189
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Low-set ears, Hearing impairment, Cryptorchidism, Decreased numbers of nephrons, Epicanthus, Ecto...	OMIM:617641
Relapsing Polychondritis	Erythema, Sensorineural hearing impairment, Scleritis, Hematuria, Inflammatory abnormality of the...	ORPHA:728
3-Methylglutaconic Aciduria, Type Iv	Cryptorchidism	OMIM:250951
Dermotrichic Syndrome	Aminoaciduria, Proportionate short stature, Aganglionic megacolon, Blepharophimosis, Anemia, Macr...	ORPHA:99688
Popliteal Pterygium Syndrome	Small scrotum, Intercrural pterygium, Popliteal pterygium, Ankyloblepharon, Bifid scrotum, Crypto...	OMIM:119500
Fanconi-Bickel Syndrome	Hypouricemia, Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Reduced subcutaneous ...	OMIM:227810
Isolated Complex I Deficiency	Vomiting, Proximal tubulopathy, Failure to thrive, Hypertrophic cardiomyopathy, Intrauterine grow...	ORPHA:2609
Short Stature-Wormian Bones-Dextrocardia Syndrome	Midshaft hypospadias, Downslanted palpebral fissures, Long eyelashes, Cryptorchidism, Anterior hy...	ORPHA:2863
Microcephaly 6, Primary, Autosomal Recessive	Microtia	OMIM:608393
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Hearing impairment, Cardiomyopathy, Decreased liver function, Renal insufficien...	OMIM:614922
Autism Spectrum Disorder Due To Auts2 Deficiency	Low-set ears, Highly arched eyebrow, Short palpebral fissure, Eczematoid dermatitis, Bilateral pt...	ORPHA:352490
Spondyloepimetaphyseal Dysplasia, Shohat Type	Premature osteoarthritis, Hepatosplenomegaly, Abdominal distention	ORPHA:93352
Inclusion Body Myositis	Autoimmunity	ORPHA:611
Intellectual Developmental Disorder, Autosomal Dominant 51	Sparse lateral eyebrow, Failure to thrive, Recurrent otitis media, Cryptorchidism, Chronic consti...	OMIM:617788
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating antibody level, Scleritis, Weight loss, Anorexia, Elevated circulating C-re...	ORPHA:91500
Moebius Syndrome	Hearing impairment, Breast aplasia, Hypogonadotropic hypogonadism, Epicanthus, Ptosis, Feeding di...	ORPHA:570
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Highly arched eyebrow, Hearing impairment, Intrauterine growth retardation, Cleft soft palate, Cr...	ORPHA:2282
Meckel Syndrome 14	Low-set ears, Hepatic fibrosis, Abdominal distention, Oligohydramnios, Increased nuchal transluce...	OMIM:619879
Squamous Cell Carcinoma Of The Anal Canal	Intestinal bleeding, Skin ulcer, Neoplasm of the liver, Lymphadenopathy, Abdominal pain, Neoplasm...	ORPHA:424019
Short Stature And Facioauriculothoracic Malformations	Low-set ears, Cupped ear, Proportionate short stature, Ptosis, Overfolded helix, High palate, Cle...	OMIM:609654
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Low-set ears, Downslanted palpebral fissures, Decreased body weight, Microtia, Synophrys	ORPHA:357175
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Recurrent pneumonia, Peripheral pulmonary artery stenosis, Atelectasis, Emphyse...	OMIM:613177
Ectodermal Dysplasia-Skin Fragility Syndrome	Recurrent pneumonia, Chapped lip, Recurrent skin infections, Scaling skin, Pruritus, Cheilitis	ORPHA:158668
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Microtia, Hydroureter, Duodenal stenosis	ORPHA:2547
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Jaundice, Hypothyroidism, Constipation	ORPHA:2349
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Failure to thrive, Epicanthus, Lethargy, Feeding difficulties	OMIM:250620
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Cerebral hemorrhage, Purpura, Pulmonary embolism	OMIM:614514
Ciliary Dyskinesia, Primary, 38	Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis	OMIM:618063
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Portal hypertension,...	OMIM:263200
Biotinidase Deficiency	Spastic paraparesis, Eczematoid dermatitis, Skin rash, Lethargy, Decreased circulating biotinidas...	ORPHA:79241
Tangier Disease	Ectropion, Dry skin, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular ...	ORPHA:31150
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Conjunctival icterus, Ascites, Per...	ORPHA:57777
Fetal Akinesia Deformation Sequence 2	Cryptorchidism, Downslanted palpebral fissures	OMIM:618388
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Epicanthus, Cryptorchidism, Narrow palpebral fissure	OMIM:619595
Choreoacanthocytosis	Acanthocytosis, Dysphagia, Elevated circulating creatine kinase concentration	OMIM:200150
Rett Syndrome	Bradykinesia, Cholecystitis, Failure to thrive, Limb apraxia	ORPHA:778
Joubert Syndrome 37	Low-set ears, Decreased testicular size, Obesity, Cryptorchidism, Hydronephrosis, Hepatomegaly, P...	OMIM:619185
Branchiootorenal Syndrome 1	Dilatated internal auditory canal, Sensorineural hearing impairment, Enlarged vestibular aqueduct...	OMIM:113650
Scalp-Ear-Nipple Syndrome	Low-set ears, Dry skin, Underdeveloped tragus, Epicanthus, Blepharophimosis, Narrow palpebral fis...	OMIM:181270
Idiopathic Intracranial Hypertension	Vomiting, Depression, Vertigo, Obesity, Lethargy, Nausea, Pulsatile tinnitus	ORPHA:238624
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Acne, Increased circulating cortisol level, Increased urinary cortisol level, Hepatic steatosis, ...	ORPHA:189427
Pituicytoma	Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ...	ORPHA:251623
Perry Syndrome	Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
Glycine Encephalopathy 1	Hyperglycinuria, Lethargy	OMIM:605899
Developmental And Epileptic Encephalopathy 50	Diarrhea, Failure to thrive, Oroticaciduria, Acanthocytosis, Hyperammonemia, Renal tubular acidos...	OMIM:616457
Buerger Disease	Skin ulcer	ORPHA:36258
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Vomiting, Elevated circulating hepatic transaminase concentration, Medium chain ...	OMIM:201450
Congenital Tufting Enteropathy	Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Malabsorption, Puncta...	ORPHA:92050
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism, Premature graying of hair	ORPHA:280679
Porphyria Variegata	Chronic kidney disease, Thickened skin, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79473
Rapadilino Syndrome	High, narrow palate, Sparse eyebrow, Diarrhea, Hearing impairment, Feeding difficulties, Sparse e...	OMIM:266280
Paganini-Miozzo Syndrome	Low-set ears, Downslanted palpebral fissures, Urinary incontinence, Posteriorly rotated ears, Fee...	OMIM:301025
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Micropenis, Upslanted palpebral fissure, Thick eyebrow, Cryptorchidism	OMIM:614684
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Sea-blue histiocytosis, Splenomegaly, Decreased beta-galactosidase activity, H...	OMIM:230600
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Micronodula...	OMIM:192315
Rubinstein-Taybi Syndrome 1	Low-set ears, Hearing impairment, Postnatal growth retardation, Cryptorchidism, Epicanthus, Feedi...	OMIM:180849
Malignant Peritoneal Mesothelioma	Ascites, Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain, Pedal edema	ORPHA:168811
Cockayne Syndrome Type 3	Lentiglobus, Hepatomegaly, Corneal ulceration, Macrotia, Cataract, Microcornea, Gastroesophageal ...	ORPHA:90324
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Bradykinesia, Slowed slurred speech	OMIM:619827
Mosaic Trisomy 9	Low-set ears, Endocardial fibroelastosis, Cryptorchidism, Ventricular septal defect, Atrial septa...	ORPHA:99776
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Asplenia, Chro...	OMIM:244400
Autosomal Recessive Malignant Osteopetrosis	Hearing impairment, Bruising susceptibility, Pallor, Splenomegaly, Otitis media, Chronic rhinitis...	ORPHA:667
Ablepharon Macrostomia Syndrome	Fine hair, Abnormal female external genitalia morphology, Breast hypoplasia, Dry skin, Redundant ...	ORPHA:920
46,Xy Sex Reversal 4	Hypoplasia of the uterus, Gonadal dysgenesis, Recurrent otitis media, Ureteropelvic junction obst...	OMIM:154230
Lesch-Nyhan Syndrome	Anemia, Gout	ORPHA:510
Meier-Gorlin Syndrome 6	Severe short stature, Gastroesophageal reflux, Conductive hearing impairment, Failure to thrive, ...	OMIM:616835
Neurodevelopmental Disorder With Spasticity And Poor Growth	High, narrow palate, Low-set ears, Gastroesophageal reflux, Vomiting, Failure to thrive, Large ea...	OMIM:618076
Noonan Syndrome 14	Sparse eyebrow, Dry skin, Cryptorchidism, Low posterior hairline, Curly hair, Sparse hair	OMIM:619745
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Hypogonadism, Telecanthus, Upslanted palpebral fissure, Cryptorchidism	ORPHA:228390
Familial Benign Copper Deficiency	Anemia, Acne	ORPHA:1551
Ethanolaminosis	Cardiomegaly	OMIM:227150
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain	OMIM:191390
Intellectual Developmental Disorder, Autosomal Recessive 35	Low-set ears, Downslanted palpebral fissures, Decreased body weight, Microtia, Synophrys	OMIM:615162
Chromosome 15Q25 Deletion Syndrome	Low-set ears, Webbed neck, Polysplenia, Downslanted palpebral fissures, Coronary artery fistula, ...	OMIM:614294
Anterior Cutaneous Nerve Entrapment Syndrome	Vertigo, Anorexia, Recurrent infection of the gastrointestinal tract, Leukocytosis, Decreased bod...	ORPHA:51890
Cornelia De Lange Syndrome 1	Low-set ears, Cryptorchidism, Sensorineural hearing impairment, Hypoplastic labia majora, High pa...	OMIM:122470
Hereditary Chronic Pancreatitis	Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Elevated circulating C-reactive p...	ORPHA:676
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea	OMIM:244200
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Telecanthus, Cachexia	ORPHA:2774
Parana Hard Skin Syndrome	Thickened skin, Hyperkeratosis	ORPHA:2812
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:300894
46,Xx Sex Reversal 1	Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia...	OMIM:400045
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Alopecia, Skin ulcer, Abnormal fingernail morphology, Sparse hair	ORPHA:659
Intellectual Developmental Disorder, X-Linked 93	Cryptorchidism	OMIM:300659
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Diarrhea, Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti...	ORPHA:221139
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Intellectual Developmental Disorder, Autosomal Dominant 53	Downslanted palpebral fissures, Intestinal malrotation, Cryptorchidism, Hydronephrosis, Epicanthu...	OMIM:617798
Resistance To Thyrotropin-Releasing Hormone Syndrome	Depression, Growth delay, Increased circulating prolactin concentration, Dry skin, Decreased circ...	ORPHA:99832
Spinocerebellar Ataxia, Autosomal Recessive 20	Short palpebral fissure, Hearing impairment, Oligosacchariduria, Splenomegaly, Sensorineural hear...	OMIM:616354
Polyembryoma	Irregular menstruation, Increased serum serotonin, Abnormality of the endocrine system, Abnormal ...	ORPHA:180229
Progeria-Short Stature-Pigmented Nevi Syndrome	Insulin-resistant diabetes mellitus, Microcytic anemia, Hepatic steatosis, Premature ovarian insu...	ORPHA:2959
Distal Xq28 Microduplication Syndrome	Epistaxis, Depression, Absent antihelix, Upper eyelid edema, Hypothyroidism, Aplasia/Hypoplasia o...	ORPHA:293939
Arthrogryposis, Distal, Type 1C	Cryptorchidism, Blepharophimosis	OMIM:619110
Intermediate Osteopetrosis	Anemia, Osteomyelitis, Hepatosplenomegaly, Elevated circulating alkaline phosphatase concentration	ORPHA:210110
Fanconi Anemia, Complementation Group S	Failure to thrive, Long eyelashes, Upslanted palpebral fissure, Ovarian carcinoma, Epicanthus, Bl...	OMIM:617883
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Crumpled ear, Cupped ear, Failure to thrive, Hearing impairment, Intrauterine growth retardation,...	OMIM:620494
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Microtia, Iris coloboma, Lacrimal duct atresia	ORPHA:139450
Desmoid Tumor	Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestinal obstruction, Hydrone...	ORPHA:873
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Alopecia, Nail dystrophy	ORPHA:79397
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Erythema, Downslanted palpebral fissures, Dry skin, Feeding difficulties, Postnatal growth retard...	OMIM:620510
Congenital Factor Ii Deficiency	Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ...	ORPHA:325
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu...	OMIM:265300
Developmental And Epileptic Encephalopathy 66	Downslanted palpebral fissures, Astigmatism, Cryptorchidism, Neutropenia, Anemia, Synophrys	OMIM:618067
Cirrhosis, Familial	Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Ascites, Letharg...	OMIM:215600
Cowden Syndrome 1	Varicocele, Colonic diverticula, Cataract, Thyroid adenoma, Hearing impairment, Goiter, Lymphopen...	OMIM:158350
Alopecia Totalis	Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails	ORPHA:700
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Skin vesicle, Hypoplastic fingernail	ORPHA:257
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Failure to thrive, ...	OMIM:613327
Mandibulofacial Dysostosis With Alopecia	Low-set ears, Hydroureter, Cupped ear, Conductive hearing impairment, Stenosis of the external au...	OMIM:616367
Schaaf-Yang Syndrome	Low-set ears, Short palpebral fissure, Gastroesophageal reflux, Hypogonadism, Failure to thrive i...	OMIM:615547
Familial Mediterranean Fever, Autosomal Dominant	Peritonitis, Pleuritis, Erysipelas	OMIM:134610
Peritoneal Cystic Mesothelioma	Metrorrhagia, Peritonitis, Constipation, Dyspareunia, Weight loss, Abdominal distention, Abdomina...	ORPHA:168816
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Failure to thrive, Large for gestational a...	OMIM:614520
Leukonychia Totalis	Abnormal eyelash morphology, Blepharitis	ORPHA:2387
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Persistent Müllerian Duct Syndrome	Male pseudohermaphroditism, Cryptorchidism	ORPHA:2856
Hereditary Fructose Intolerance	Chronic kidney disease, Cataract, Diarrhea, Vomiting, Renal insufficiency, Nausea, Abdominal pain...	ORPHA:469
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Cryptorchidism, Hypothyroidism, Delayed puberty, Adrenal hypoplasia,...	ORPHA:95496
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Splenomegaly, Decreased beta-galactosidase activity	OMIM:230650
Beemer-Ertbruggen Syndrome	Low-set, posteriorly rotated ears, Ambiguous genitalia, Cryptorchidism, Thrombocytopenia	ORPHA:1237
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
46,Xx Sex Reversal 4	Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias...	OMIM:617480
Fanconi Anemia, Complementation Group P	Short palpebral fissure, Growth delay, Hearing impairment, Horseshoe kidney, Pancytopenia, Crypto...	OMIM:613951
Juvenile Xanthogranuloma	Uveitis, Myeloproliferative disorder, Blepharitis, Iritis	ORPHA:158000
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Bruising susceptibility, Hyperextensible skin, Arrhythmia, Adrenal h...	ORPHA:230839
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Failure to thriv...	OMIM:609015
Atelis Syndrome 2	Low-set ears, Short palpebral fissure, Gastroesophageal reflux, Elevated circulating thyroid-stim...	OMIM:620185
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Cryptorchidism, Hypogonadotropic hypogonadism, Epicanthus, Delayed puberty, Micropenis, Decreased...	OMIM:619761
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyebrow, Hearing impairment, Congenital ichthyosiform erythroderma, Downslanted palpebral ...	OMIM:302960
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Hyperinsulinemia, Decreased fertility, Hepatic steatosis, Type II diabetes ...	OMIM:269700
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Low-set ears, Small scrotum, Cataract, Growth delay, Hearing impairment, Megalocornea, Downslante...	OMIM:601353
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Failure to thrive, Decreased liver function, Glycosuria, Hypertrophic cardiomyopat...	OMIM:220110
Waisman Syndrome	Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t...	OMIM:311510
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Low-set ears, Gastroesophageal reflux, Failure to thrive, Horseshoe kidney, Thin eyebrow, Long ey...	ORPHA:502434
Lipoid Proteinosis Of Urbach And Wiethe	Reduced epidermal extracellular matrix protein 1 protein expression, Patchy alopecia	OMIM:247100
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse pubic hair, Alopecia, Sparse eyebrow, Aplasia/hypoplasia of the uterus, Abnormal eyebrow m...	ORPHA:2232
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto...	OMIM:194072
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Recurrent pneumonia, Sparse eyebrow, Failure to thrive, Recu...	OMIM:252500
Fish-Eye Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy	ORPHA:79292
Dubowitz Syndrome	Low-set ears, Aplastic anemia, Velopharyngeal insufficiency, Megalocornea, Postnatal growth retar...	OMIM:223370
Ear-Patella-Short Stature Syndrome	Low-set ears, Abnormality of the outer ear, Clitoral hypertrophy, Hearing impairment, Atresia of ...	ORPHA:2554
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir...	OMIM:210500
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Micropenis, Hypospadias, Cryptorchidism	OMIM:618815
Rothmund-Thomson Syndrome, Type 1	Male hypogonadism, Recurrent otitis media, Absent eyelashes, Hypothyroidism, Absent eyebrow, Prem...	OMIM:618625
Menkes Disease	Cutis laxa, Alopecia, Sparse hair, Brittle hair	OMIM:309400
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Neonatal death	OMIM:300076
Drug-Induced Autoimmune Hemolytic Anemia	Pallor, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Mitochondrial Trifunctional Protein Deficiency	Poor suck, Cardiomyopathy, Cholestasis, Tricuspid regurgitation, Congestive heart failure, Failur...	ORPHA:746
Hirschsprung Disease	Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Neo...	ORPHA:388
Meier-Gorlin Syndrome 4	Low-set ears, Failure to thrive, Breast hypoplasia, Intrauterine growth retardation, Cryptorchidi...	OMIM:613804
Leprosy	Testicular mass, Paralytic lagophthalmos, Penetrating foot ulcers, Abnormality of the spleen, Abn...	ORPHA:548
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Diarrhea, Vomiting, Failure to thrive, Proximal tubulopathy, Hearing im...	OMIM:560000
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Failure to thrive, Cerebral palsy, Propionyl-CoA carboxylase deficiency, Opisthotonus, Lethargy, ...	OMIM:210210
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Hydrocele testis, Ab...	OMIM:607823
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Hyperlysinuria With Hyperammonemia	Hyperlysinuria, Malabsorption, Lethargy, Dibasicaminoaciduria, Growth delay	OMIM:238750
X-Linked Intellectual Disability, Miles-Carpenter Type	Hypogonadism	ORPHA:85283
Juvenile Dermatomyositis	Erythema, Vasculitis, Gastrointestinal hemorrhage, Skin ulcer, Cardiomyopathy, Bundle branch bloc...	ORPHA:93672
Intellectual Developmental Disorder, Autosomal Dominant 73	Low-set ears, Premature adrenarche, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Cry...	OMIM:620450
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus	ORPHA:399180
Van Maldergem Syndrome 1	Short palpebral fissure, Renal hypoplasia, Conductive hearing impairment, Atresia of the external...	OMIM:601390
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Low-set ears, Highly arched eyebrow, Failure to thrive, Hearing impairment, Downslanted palpebral...	OMIM:617452
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Vomiting, Failure to thrive, Decreased liver function, Glycosuria, Hypertrophic ca...	ORPHA:436271
Sandifer Syndrome	Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia, Feed...	ORPHA:71272
Developmental Delay, Dysmorphic Facies, And Brain Anomalies	Low-set ears, Thick eyebrow, Upslanted palpebral fissure, Ptosis, Microtia	OMIM:620535
Pancreatoblastoma	Vomiting, Diarrhea, Abnormal lymph node morphology, Pancreatic calcification, Abdominal pain, Wei...	ORPHA:677
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Elevated urinary dopamine level, Diarrhea, Vomiting, Bilateral ptosis, Abnor...	ORPHA:230
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Bone Marrow Failure Syndrome 5	Oral leukoplakia, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Decreased circulating anti...	OMIM:618165
Abetalipoproteinemia	Fat malabsorption, Acanthocytosis, Abetalipoproteinemia	OMIM:200100
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Obesity...	OMIM:615630
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Atresia of the external auditory canal, Bifid scrotum, Anteriorly pla...	OMIM:123790
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Corneal perforation, Vomiting, Granuloma, Skin ulcer, ...	ORPHA:68
Adnp Syndrome	Low-set ears, Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia, Bilateral ptosis, Res...	ORPHA:404448
Cardiofaciocutaneous Syndrome	Fine hair, Dry skin, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Redundant ski...	ORPHA:1340
Cleft Velum	Recurrent otitis media, Oral-pharyngeal dysphagia, Aspiration pneumonia	ORPHA:99772
X-Linked Intellectual Disability, Seemanova Type	Hypogonadism, Epicanthus, Cryptorchidism	ORPHA:85323
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, High-frequency hearing impairment, Organic aciduria, Bilateral ptosis, Stag...	OMIM:619743
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Aspiration pneumonia, Opisthotonus, Weight loss, Frequent falls	ORPHA:216866
Immunoglobulin A Vasculitis	Erythema, Vasculitis, Gastrointestinal hemorrhage, Skin ulcer, Bruising susceptibility, Gastroint...	ORPHA:761
Familial Benign Chronic Pemphigus	Erythema, Acantholysis, Skin vesicle	ORPHA:2841
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Ptosis, Telangiectasia of the skin,...	OMIM:212112
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Synovitis, Glomerulonephritis, Arthritis, Serositis	ORPHA:567544
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ...	OMIM:601399
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Diarrhea, Dilated cardiomyopathy, Nephrolithiasis, Arrhythmia, Ptosis, Nausea, Dysphagia, Hypergo...	ORPHA:352447
Lynch Syndrome	Colon cancer, Nausea and vomiting, Neoplasm of the rectum, Weight loss, Adenoma sebaceum, Abdomin...	ORPHA:144
Mannosidosis, Alpha B, Lysosomal	Thick eyebrow, Splenomegaly, Decreased circulating alpha-mannosidase activity, Sensorineural hear...	OMIM:248500
Gracile Syndrome	Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra...	OMIM:603358
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Skin ulcer	ORPHA:743
Au-Kline Syndrome	Chronic kidney disease, Supernumerary nipple, Cryptorchidism, Sensorineural hearing impairment, H...	OMIM:616580
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Meier-Gorlin Syndrome 2	Clitoral hypertrophy, Gastroesophageal reflux, Failure to thrive, Breast hypoplasia, Intrauterine...	OMIM:613800
Rauch-Steindl Syndrome	Highly arched eyebrow, Failure to thrive, Bilateral renal hypoplasia, Prominent crus of helix, Ex...	OMIM:619695
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Spasticity, Cachexia, Skin rash, Ataxia	ORPHA:220295
Lessel-Kubisch Syndrome	Hypogonadism	OMIM:618681
Oculoauriculofrontonasal Syndrome	Conductive hearing impairment, Upper eyelid coloboma, Limbal dermoid, Cleft palate, Microtia	ORPHA:398156
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Postnatal growth retardat...	OMIM:616263
Hydroxykynureninuria	Dry skin	ORPHA:79155
Beckwith-Wiedemann Syndrome	Nephropathy, Hearing impairment, Abnormal earlobe morphology, Cryptorchidism, Hepatoblastoma, Fee...	ORPHA:116
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent pneumonia, Recurrent upper respiratory tract infections, Gastroesophageal reflux, Persi...	OMIM:619769
Imagawa-Matsumoto Syndrome	Cryptorchidism, Downslanted palpebral fissures	OMIM:618786
Dermatomyositis	Erythema, Abnormal eosinophil morphology, Dry skin, Lung adenocarcinoma, Feeding difficulties in ...	ORPHA:221
Noonan Syndrome	Abnormality of the spleen, Cryptorchidism, Sensorineural hearing impairment, Feeding difficulties...	ORPHA:648
Isolated Congenital Alacrima	Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivi...	ORPHA:91416
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Chromosome 1Q41-Q42 Deletion Syndrome	Low-set ears, Sparse eyebrow, Downslanted palpebral fissures, Supernumerary nipple, Cryptorchidis...	OMIM:612530
Rheumatoid Arthritis	Anti-citrullinated protein antibody positivity, Rheumatoid arthritis, Weight loss, Rheumatoid fac...	OMIM:180300
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Periorbital wrinkles, Dry skin, Conca...	OMIM:305100
Abruzzo-Erickson Syndrome	Epicanthus, Hypospadias, Cryptorchidism, Coronal hypospadias	ORPHA:921
Xfe Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Failure to thrive, Ascites, Corneal scar...	OMIM:610965
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Small for gestational age, Horizontal eyebrow, Failure to thrive, Decr...	OMIM:609757
Prolactinoma	Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon...	ORPHA:2965
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis, Failure to thrive	ORPHA:89838
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hearing impairment, Lymphedema, Hypertrophic cardiomyopathy, Vertigo, Telangiectasia, Telangiecta...	ORPHA:79279
Meningococcal Meningitis	Hypotension, Hearing impairment, Shock, Renal insufficiency, Petechiae, Skin rash, Infectious enc...	ORPHA:33475
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Parenti-Mignot Neurodevelopmental Syndrome	Low-set ears, Cupped ear, Upslanted palpebral fissure, Epicanthus, Microtia, Posteriorly rotated ...	OMIM:619873
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Maxillonasal Dysplasia	Striae distensae	ORPHA:1248
Xeroderma Pigmentosum, Variant Type	Ectropion, Conjunctivitis, Entropion, Keratitis	OMIM:278750
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Skin ulcer, Cylindroma, Trichoepithelioma	ORPHA:79493
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Highly arched eyebrow, Pulmonary hypoplasia, Hepatic sinusoidal dilatation, Atelectasis, Long eye...	OMIM:620371
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr...	ORPHA:465
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Diaphanospondylodysostosis	Low-set ears, Webbed neck, Pulmonary hypoplasia, Horseshoe kidney, Oligohydramnios, Increased nuc...	OMIM:608022
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Abdominal pain, Hepa...	ORPHA:234
Glycerol Kinase Deficiency	Low-set ears, Vomiting, Increased urinary glycerol, Adrenal insufficiency, Adrenocortical hypopla...	OMIM:307030
48,Xyyy Syndrome	Male hypogonadism, Azoospermia	ORPHA:99329
Postaxial Acrofacial Dysostosis	Cupped ear, Conductive hearing impairment, Supernumerary nipple, Downslanted palpebral fissures, ...	ORPHA:246
Spermatogenic Failure 13	Azoospermia, Male infertility	OMIM:615841
Acrocephalopolydactylous Dysplasia	Low-set ears, Hepatic fibrosis, Thickened skin, Polysplenia, Ascites, Upslanted palpebral fissure...	OMIM:200995
Autosomal Dominant Optic Atrophy, Classic Form	Cataract, Hypogonadism, Macrocytic anemia, Sensorineural hearing impairment, Ptosis, Hypothyroidi...	ORPHA:98673
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia	OMIM:617056
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Erythema, Eczematoid dermatitis, Redundant skin, Seborrheic dermatitis, Arthritis	OMIM:259100
Xeroderma Pigmentosum, Complementation Group E	Ectropion, Conjunctivitis, Entropion, Keratitis	OMIM:278740
Chops Syndrome	High, narrow palate, Cataract, Gastroesophageal reflux, Hearing impairment, Aspiration pneumonia,...	OMIM:616368
Lacrimoauriculodentodigital Syndrome 2	Conjunctivitis, Lacrimal duct aplasia, Absent lacrimal punctum, Lacrimal duct atresia	OMIM:620192
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Barber-Say Syndrome	Sparse eyebrow, Absent nipple, Hypertrichosis, Premature skin wrinkling, Dry skin, Redundant skin...	OMIM:209885
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Elevated circulating hepatic transaminase concentration, Car...	OMIM:212138
Von Willebrand Disease, Type 3	Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge...	OMIM:277480
Craniofacioskeletal Syndrome	Short palpebral fissure, Downslanted palpebral fissures, Intrauterine growth retardation, Absent ...	OMIM:300712
Aspartylglucosaminuria	Recurrent respiratory infections, Vascular skin abnormality, Aspartylglucosaminuria, Malabsorptio...	ORPHA:93
Cerebellar Ataxia-Hypogonadism Syndrome	Supernumerary nipple, Hypogonadism, Decreased fertility, Hypogonadotropic hypogonadism, Abnormali...	ORPHA:1173
Gaisböck Syndrome	Increased red blood cell count, Peptic ulcer, Nephrocalcinosis, Increased mean corpuscular hemogl...	ORPHA:90041
Hereditary Late-Onset Parkinson Disease	Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi...	ORPHA:411602
Hereditary Pulmonary Alveolar Proteinosis	Failure to thrive in infancy, Crazy paving pattern, Autoimmune antibody positivity, Acute infecti...	ORPHA:264675
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hearing impairment, Large for gestational age, Polyhydramnios, Upslanted palpebral fissure, Ichth...	OMIM:300868
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi...	OMIM:607060
Cushing Disease	Acne, Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Capill...	ORPHA:96253
Saethre-Chotzen Syndrome	Blepharospasm, Low-set ears, Conductive hearing impairment, Hearing impairment, Prominent crus of...	ORPHA:794
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Restrictive cardiomyopathy, Increased circulating interleukin 6 concentration, E...	ORPHA:75565
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Limb fasciculations, Tremor, Aspiration pneumonia	ORPHA:90117
Degcags Syndrome	Low-set ears, Chronic kidney disease, Hearing impairment, Oral-pharyngeal dysphagia, Premature gr...	OMIM:619488
Rett Syndrome	Spasticity, Gait ataxia, Cachexia, Gait apraxia, Truncal ataxia	OMIM:312750
Charge Syndrome	Low-set ears, Lymphopenia, Feeding difficulties, Cryptorchidism, Sensorineural hearing impairment...	OMIM:214800
Leukoencephalopathy With Vanishing White Matter 1	Lethargy, Primary amenorrhea, Premature ovarian insufficiency, Primary gonadal insufficiency, Sec...	OMIM:603896
Dihydropyrimidinase Deficiency	Failure to thrive, Elevated urinary thymine level, Elevated circulating aspartate aminotransferas...	OMIM:222748
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Failure to thriv...	ORPHA:99901
Anal Fistula	Pruritus, Leukocytosis	ORPHA:228113
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Craniosynostosis, Herrmann-Opitz Type	Abnormality of the urethra, Intrauterine growth retardation, Abnormal antihelix morphology, Short...	ORPHA:2145
Brunner Syndrome	Diarrhea	OMIM:300615
Exercise-Induced Malignant Hyperthermia	Hypotension, Hepatic failure, Vomiting, Abnormal pulse pressure, Abnormal bleeding, Sinus tachyca...	ORPHA:466650
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Abnormal circulating enzyme concentration or activity, Malabsorption, Nausea, Abdominal...	ORPHA:103907
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hearing impairment, Dry skin, Cryptorchidism, Absent eyelashes, Ect...	OMIM:308205
Macs Syndrome	Sparse eyebrow, Downslanted palpebral fissures, Redundant skin, Cryptorchidism, Hyperextensible s...	OMIM:613075
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Cryptorchidism, Abnormality of the palpebral fissures	ORPHA:178148
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Pterygium, Panc...	OMIM:224230
Rothmund-Thomson Syndrome Type 2	Erythema, Diarrhea, Aplastic anemia, Vomiting, Growth delay, Nasogastric tube feeding, Functional...	ORPHA:221016
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:620197
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo...	ORPHA:169805
Spermatogenic Failure, X-Linked, 4	Azoospermia, Male infertility	OMIM:301077
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Hepatosplenomegaly, Cryptorchidism, Epicanthus, Hepatoblastoma, Ble...	ORPHA:96334
Acute Disseminated Encephalomyelitis	Myelitis, Involuntary movements, Herpes simplex encephalitis, Hemiparesis, Optic neuritis, Abnorm...	ORPHA:83597
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia...	ORPHA:309108
Carpenter Syndrome	Abnormal cornea morphology, Polysplenia, External genital hypoplasia, Obesity, Cryptorchidism, Ab...	ORPHA:65759
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Skin rash	ORPHA:889
Incontinentia Pigmenti	Keratitis, Supernumerary nipple, Skin rash, Infectious encephalitis, Eosinophilia, Uveitis	ORPHA:464
Developmental Delay, Hypotonia, And Impaired Language	Recurrent pneumonia, Gastroesophageal reflux, Astigmatism, Cryptorchidism, Constipation, Neutrope...	OMIM:620012
Ovarian Hyperstimulation Syndrome	Generalized edema, Hemorrhagic ovarian cyst, Ascites, Peripheral edema, Pleural effusion, Nausea ...	ORPHA:64739
Emanuel Syndrome	Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Cryptorchidism, ...	ORPHA:96170
Oculocerebrocutaneous Syndrome	Cryptorchidism, Orbital cyst, Eyelid coloboma	OMIM:164180
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Dermal translucency, Hydrocele test...	OMIM:137940
Attrv30M Amyloidosis	Nephropathy, Atrioventricular block, Diarrhea, Cardiomyopathy, Cardiomegaly, Arrhythmia, Constipa...	ORPHA:85447
Restrictive Dermopathy 1	Short palpebral fissure, Sparse eyebrow, Stillbirth, Sparse eyelashes, Absent eyelashes, Neonatal...	OMIM:275210
Warburg Micro Syndrome 1	Low-set ears, Microcornea, Failure to thrive, External genital hypoplasia, Cryptorchidism, Ptosis...	OMIM:600118
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Intestinal bleeding, Oral leukoplakia, Postnatal growth retardation,...	OMIM:612199
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Eczematoid dermatitis, Congenital adrenal hyperplasia, Intrauterine growth ...	ORPHA:96181
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Low-set ears, Downslanted palpebral fissures, Aganglionic megacolon, Epicanthus, Ptosis, Intraven...	OMIM:613603
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Vomiting, Hyperactive renin-angiotensin system, Failure to thrive, Abnormal female ext...	ORPHA:90790
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Paroxysmal Nocturnal Hemoglobinuria 2	Abdominal pain, Diarrhea, Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Hypogonadism, Absence of pubertal development	OMIM:615267
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Conductive hearing impairment, Downslanted palpebral fissures, Polyhydramnios, ...	OMIM:300990
Diarrhea 13	Vomiting, Secretory diarrhea, Failure to thrive, Elevated circulating hepatic transaminase concen...	OMIM:620357
Pseudohypoparathyroidism Type 1A	Cataract, Pituitary resistance to thyroid hormone, Band keratopathy, Depression, Elevated circula...	ORPHA:79443
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Hepatic failure, Elevated circulating hepatic transaminase concentration, Oliguria, ...	ORPHA:159
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Cataract, Resting tremor, Hand tremor, Gait ataxia, Rigidity, Parkinsonism, Parkinsonism with fav...	OMIM:157640
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Hypogonadism, Delayed puberty	OMIM:615270
Chromosome 18P Deletion Syndrome	Gonadal dysgenesis, Decreased testicular size, Cryptorchidism, Redundant neck skin, Epicanthus, P...	OMIM:146390
Infantile Systemic Hyalinosis	Thickened skin, Skin ulcer, Aplasia/Hypoplasia of the thymus, Lymphedema, Failure to thrive, Mala...	ORPHA:2176
Cerebrofacioarticular Syndrome	Anal stenosis, Renal hypoplasia, Conductive hearing impairment, Anteriorly placed anus, Absence o...	ORPHA:314679
Rabson-Mendenhall Syndrome	Precocious puberty, Clitoral hypertrophy, Long penis, Hypertrichosis, Premature graying of hair, ...	ORPHA:769
Global Developmental Delay With Speech And Behavioral Abnormalities	Precocious puberty, Downslanted palpebral fissures, Cryptorchidism, Supernumerary nipple	OMIM:619243
Restrictive Dermopathy	Low-set ears, Atrial septal defect, Dextrocardia, Hypospadias, Short palpebral fissure, Sparse ey...	ORPHA:1662
Hermansky-Pudlak Syndrome 10	Low-set ears, Feeding difficulties, Splenomegaly, Neutropenia, Hepatomegaly, Abnormal pulmonary i...	OMIM:617050
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Lissencephaly, X-Linked, 2	Low-set ears, Diarrhea, Decreased testicular size, Feeding difficulties in infancy, Ambiguous gen...	OMIM:300215
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Coach Syndrome 1	Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat...	OMIM:216360
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Vomiting, Abdominal dist...	ORPHA:521219
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism	ORPHA:261102
Pelvis-Shoulder Dysplasia	Microcornea, Microglossia, Short palpebral fissure, Mesomelic/rhizomelic limb shortening, Hydrone...	ORPHA:2839
Manganese Poisoning	Postural tremor, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Hypertonia, Bra...	ORPHA:306682
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Small scrotum, Short palpebral fissure, Highly arched eyebrow, Cryptorchidism, Hypoplasia of penis	ORPHA:2083
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism	OMIM:616816
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Vomiting, Elevated circulating hepatic transaminase concentration, F...	OMIM:229600
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Diarrhea, Pheochromocytoma, Medullary thyroid carc...	ORPHA:1332
Uruguay Faciocardiomusculoskeletal Syndrome	Low-set ears, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, C...	OMIM:300280
Cranioectodermal Dysplasia 3	Short nail, Fine hair, Dry skin, Cutis laxa, Broad nail, Sparse hair	OMIM:614099
Reni Syndrome	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogonadism, Lymphopen...	OMIM:617575
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Apnea, Lethargy, Thrombocytopenia, Feeding difficulties, Poor suck	OMIM:620423
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Skin Creases, Congenital Symmetric Circumferential, 2	Low-set ears, Small scrotum, Microcornea, Short palpebral fissure, Ureterocele, Downslanted palpe...	OMIM:616734
Hereditary Mucoepithelial Dysplasia	Alopecia, Sparse hair, Fine hair, Abnormal morphology of female internal genitalia	ORPHA:1839
Microcephaly 27, Primary, Autosomal Dominant	Micropenis, Cryptorchidism	OMIM:619180
Neuroferritinopathy	Blepharospasm, Involuntary movements, Resting tremor, Chorea, Babinski sign, Parkinsonism, Bradyk...	ORPHA:157846
Infantile Liver Failure Syndrome 2	Vomiting, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Acute hepatic ...	OMIM:616483
Pseudohypoparathyroidism Type 1C	Cataract, Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid h...	ORPHA:79444
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal pyra...	ORPHA:204
Congenital Myopathy 19	Low-set ears, Hearing impairment, Cryptorchidism, Hydronephrosis, Posteriorly rotated ears, Ptosi...	OMIM:618578
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr...	OMIM:611783
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Small scrotum, Bifid scrotum, Downslanted palpebral fissures, Bilateral ptosis, Long eyelashes, T...	ORPHA:324540
Kabuki Syndrome 1	Low-set ears, Anoperineal fistula, Hearing impairment, Recurrent otitis media, Postnatal growth r...	OMIM:147920
Alopecia Universalis	Atopic dermatitis, Psoriasiform dermatitis, Autoimmunity	ORPHA:701
Sneddon Syndrome	Livedo, Lymphopenia, Cutis marmorata, Livedo racemosa, Bicuspid aortic valve, Livedo reticularis,...	OMIM:182410
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Diarrhea, Renal insufficiency, Proteinuria, Megaloblastic anemia, Anemia, G...	OMIM:618882
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ...	OMIM:612953
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia, Absent outer dynein arms	OMIM:618300
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Elevated gamma-glutamyltransferase level, Decreased ...	ORPHA:64
Ring Chromosome 12 Syndrome	Low-set ears, Webbed neck, Secundum atrial septal defect, Glandular hypospadias, Uterine leiomyom...	ORPHA:1439
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Rheumatoid arthritis, Band keratopathy, Failure to thrive, Autoimmunity, Knee osteoarth...	ORPHA:85410
Kallmann Syndrome	Abnormal morphology of female internal genitalia, Breast hypoplasia, Decreased testicular size, H...	ORPHA:478
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	OMIM:614251
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Chronic noninfectious lymph...	ORPHA:319487
Noonan Syndrome 2	Low-set ears, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Epicanthus, Bicus...	OMIM:605275
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hepatic failure, Hypertrophic cardiomyopathy, Pancytopenia, S...	OMIM:607426
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul...	OMIM:613038
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis, Bloody diarrhea, Feeding difficul...	OMIM:615119
Ciliary Dyskinesia, Primary, 30	Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ...	OMIM:616037
Mucopolysaccharidosis, Type Iiid	Low-set ears, Diarrhea, Hearing impairment, Asymmetric septal hypertrophy, Recurrent otitis media...	OMIM:252940
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre...	ORPHA:1501
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Low-set ears, Gastroesophageal reflux, Macrotia, Postnatal growth retardation, Intrauterine growt...	OMIM:615419
Temple Syndrome	Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Recurrent otitis media, De...	OMIM:616222
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
Satoyoshi Syndrome	Alopecia universalis, Alopecia, Hypoplasia of the uterus, Amenorrhea	OMIM:600705
Cardiofacioneurodevelopmental Syndrome	Abdominal situs inversus, Atrioventricular canal defect, Upslanted palpebral fissure, Cryptorchid...	OMIM:619123
Carpenter Syndrome 1	Low-set ears, Precocious puberty, Conductive hearing impairment, Hydroureter, Polysplenia, Tetral...	OMIM:201000
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Chromosome 2P16.1-P15 Deletion Syndrome	Low-set ears, Hearing impairment, Postnatal growth retardation, Cryptorchidism, Sensorineural hea...	OMIM:612513
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy, Decreased liver function, Upslanted palpebral fissure, Feeding difficulties in in...	OMIM:618437
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Bifid uvula, Low-set ears, Growth delay, Downslanted palpebral fissures, Low...	ORPHA:2872
Opitz-Kaveggia Syndrome	Narrow palate, Anal stenosis, Microtia, first degree, Anteriorly placed anus, Downslanted palpebr...	OMIM:305450
Koolen-De Vries Syndrome	Dry skin, Cryptorchidism, Abnormality of hair texture, Hypopigmentation of hair, Hypospadias	ORPHA:96169
2P21 Microdeletion Syndrome	Hypogonadism, Long eyelashes	ORPHA:163693
Temple Syndrome	Precocious puberty, Bifid uvula, Nasogastric tube feeding, Decreased response to growth hormone s...	ORPHA:254516
Singleton-Merten Syndrome 2	Psoriasiform lesion	OMIM:616298
Fabry Disease	Nephropathy, Hearing impairment, Angiokeratoma, Nausea and vomiting, Sensorineural hearing impair...	ORPHA:324
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Low-set ears, Webbed neck, Hypospadias, Highly arched eyebrow, Pulmonary hypoplasia, Parachute mi...	OMIM:618316
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Hypotension, Vomiting, Nephrotic syndrome, Acute kidney inju...	ORPHA:85445
Microphthalmia, Syndromic 9	Low-set ears, Cryptorchidism, Ventricular septal defect, Blepharophimosis, Atrial septal defect, ...	OMIM:601186
Joubert Syndrome With Hepatic Defect	Nephropathy, Highly arched eyebrow, Multicystic kidney dysplasia, Elevated circulating hepatic tr...	ORPHA:1454
Trichohepatoneurodevelopmental Syndrome	Low-set ears, Recurrent otitis media, Elevated circulating alkaline phosphatase concentration, In...	OMIM:618268
Hyperphenylalaninemia, Bh4-Deficient, B	Decreased urinary neopterin level, Decreased urinary biopterin level, Elevated urinary sulfatide ...	OMIM:233910
Hyperzincemia With Functional Zinc Depletion	Diarrhea, Skin rash	OMIM:601979
Distal Duplication 17Q	Accessory spleen, Severe short stature, Rhizomelia, Low-set, posteriorly rotated ears, Vesicouret...	ORPHA:3379
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Progressive cerebellar ataxia, Cataract, Fasciculations, Tortuosity of conjunctival vessels, Limb...	ORPHA:284289
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Hearing impairment, Bifid scrotum, Anteriorly placed anus, Cryptorchid...	OMIM:619148
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Abnormal bleeding, Depression, Decreased liver function, Cherry ...	ORPHA:77293
15Q24 Microdeletion Syndrome	Abnormality of the outer ear, Failure to thrive, Microphallus, Downslanted palpebral fissures, De...	ORPHA:94065
Freeman-Sheldon Syndrome	Failure to thrive, Hearing impairment, Downslanted palpebral fissures, Cryptorchidism, Feeding di...	ORPHA:2053
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Cong...	OMIM:617156
Viss Syndrome	Low-set ears, Increased circulating IgE level, Exostosis of the external auditory canal, Mitral v...	OMIM:619472
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pneumonia, Recurrent upper respiratory tract infections, Adrenocorticotropin deficient ...	ORPHA:293978
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy, Herpes simplex encephalitis	OMIM:617900
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Postnatal growth retardation, Cryptorchid...	ORPHA:138
Wiedemann-Steiner Syndrome	Low-set ears, Recurrent otitis media, Postnatal growth retardation, Cryptorchidism, Epicanthus, B...	OMIM:605130
Wolf-Hirschhorn Syndrome	Highly arched eyebrow, Hearing impairment, Abdominal situs inversus, Downslanted palpebral fissur...	ORPHA:280
Spinocerebellar Ataxia Type 13	Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticollis, Bradykinesia, Titubation	ORPHA:98768
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Macrotia, Apnea, Astigmatism, Cryptorchidism, Hydronephrosis, Long palpebral fissure, Feeding dif...	OMIM:619797
Hereditary Sensory And Autonomic Neuropathy Type 1	Gastroesophageal reflux, Poor wound healing, Hearing impairment, Skin ulcer, Penetrating foot ulc...	ORPHA:36386
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Hearing impairment, Downslanted palpebral fissures, Renal insufficiency, Abnormal aortic valve mo...	ORPHA:86818
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess, El...	OMIM:116920
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Sensorineur...	ORPHA:226307
Rafiq Syndrome	Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Downslanted palpebral fissures, Br...	OMIM:614202
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Cardiomegaly, Ectodermal dysplasia, Follicular hyperkeratosis, Congenit...	OMIM:613576
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary amenorrhea, Micropenis	OMIM:147950
Chronic Hiccup	Weight loss	ORPHA:396
Sandhoff Disease	Urinary incontinence, Hepatosplenomegaly, Increased urinary N-acetylglucosamine-rich oligosacchar...	OMIM:268800
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,...	OMIM:611126
Maple Syrup Urine Disease, Type Ia	Vomiting, Increased level of hippuric acid in urine, Lethargy, Feeding difficulties in infancy, P...	OMIM:248600
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Enterocolitis	OMIM:620425
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Diarrhea, Gastroesophageal reflux, Failure to thrive, Increased circulating prolacti...	ORPHA:35708
Sheehan Syndrome	Sparse pubic hair, Breast hypoplasia, Dry skin, Decreased female libido, Pallor, Sparse axillary ...	ORPHA:91355
Congenital Sucrase-Isomaltase Deficiency	Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Failure to thrive, Nausea, Constipa...	ORPHA:35122
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Low-set ears, Type I diabetes mellitus, Conductive hearing impairment, Diabetes insipidus, Exocri...	OMIM:618500
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, Recurrent aphthous stomatitis, B lymphocytopenia, Recurr...	OMIM:615966
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abdominal distention	ORPHA:103910
Malakoplakia	Inflammatory abnormality of the skin, Diarrhea, Skin ulcer, Urinary bladder inflammation, Dysuria...	ORPHA:556
Tenorio Syndrome	Recurrent pneumonia, Cerebral palsy, Recurrent aphthous stomatitis, Telecanthus, Thick eyebrow, C...	OMIM:616260
Dilated Cardiomyopathy With Ataxia	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Bilateral crypto...	ORPHA:66634
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Right ventricular hypertrophy, Abnormal macrophage morphology, Elevated circulating creatine kina...	ORPHA:353
Nager Syndrome	Unilateral renal agenesis, Hearing impairment, Atresia of the external auditory canal, Downslante...	ORPHA:245
Mitochondrial Complex I Deficiency, Nuclear Type 33	Spasticity, Bronchiectasis, Aspiration pneumonia, Neutropenia, Small for gestational age	OMIM:618253
48,Xxxy Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C...	ORPHA:96263
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Laurence-Moon Syndrome	Micropenis, Small scrotum	OMIM:245800
D-Bifunctional Protein Deficiency	Low-set ears, Fetal ascites, Elevated circulating hepatic transaminase concentration, Increased c...	OMIM:261515
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Hematochezia, Gastrointestinal carcinoma, Mitral regurgitation, Juvenile gastrointesti...	OMIM:175050
Von Willebrand Disease, Type 1	Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged...	OMIM:193400
Aymé-Gripp Syndrome	Low-set ears, Cataract, Downslanted palpebral fissures, Megalocornea, Bilateral ptosis, Long eyel...	ORPHA:1272
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2	Highly arched eyebrow, Absent nipple, Male urethral meatus stenosis, Cryptorchidism, Hypoplastic ...	OMIM:616001
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Early satiety, Elevated circulating deoxyuridine concentration, Diarrhea, Intestinal pseudo-obstr...	OMIM:603041
Auriculocondylar Syndrome	Abnormality of the crus of the helix, Bifid uvula, Microglossia, Hearing impairment, Question mar...	ORPHA:137888
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Seborrheic dermatitis, Acne	OMIM:167100
Vascular Hyalinosis	Protein-losing enteropathy, Hematochezia, Diarrhea, Malabsorption, Subarachnoid hemorrhage	OMIM:277175
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu...	ORPHA:98754
Oculoauriculovertebral Spectrum With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Distal urethral duplicatio...	ORPHA:2549
Schuurs-Hoeijmakers Syndrome	Low-set ears, Highly arched eyebrow, Volvulus, Downslanted palpebral fissures, Macrotia, Long eye...	OMIM:615009
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr...	OMIM:617907
Seckel Syndrome 1	Low-set ears, Clitoral hypertrophy, Downslanted palpebral fissures, Postnatal growth retardation,...	OMIM:210600
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy, Herpes simplex encephalitis	OMIM:613002
Alpha-Mannosidosis, Adult Form	Pneumonia, Cataract, Hepatosplenomegaly, Pancytopenia, Clumsiness, Corneal opacity, Ataxia	ORPHA:309288
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism	ORPHA:2772
Culler-Jones Syndrome	Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy...	OMIM:615849
German Syndrome	Downslanted palpebral fissures, Abnormal eyebrow morphology, Cryptorchidism, Ambiguous genitalia,...	ORPHA:2077
Septo-Optic Dysplasia Spectrum	Dry skin, Hypoplasia of penis, Cryptorchidism	ORPHA:3157
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Abnormal pancreas morphology, Increased ...	ORPHA:48818
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis...	OMIM:615444
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Ring Chromosome 21 Syndrome	Amenorrhea, Azoospermia, Infertility	ORPHA:1445
Spinocerebellar Ataxia Type 8	Spasticity, Limb ataxia, Gait ataxia, Rigidity, Ataxia, Bradykinesia, Spastic dysarthria	ORPHA:98760
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Dicarbo...	OMIM:614887
X-Linked Intellectual Disability, Pai Type	Epicanthus, Hydrocele testis, Cryptorchidism	ORPHA:85322
Crouzon Syndrome	Keratitis, Atresia of the external auditory canal, Conductive hearing impairment, Shallow orbits,...	OMIM:123500
Verloove Vanhorick-Brubakk Syndrome	Low-set ears, Abnormality of the parathyroid gland, Atresia of the external auditory canal, Crypt...	ORPHA:3429
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadenitis, Hypocal...	ORPHA:64744
Suleiman-El-Hattab Syndrome	Low-set ears, Highly arched eyebrow, Palpebral thickening, Failure to thrive, Hearing impairment,...	OMIM:618950
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Long eyelashes, Hypoplastic female external genitalia, Cryptorchidism	OMIM:618577
Oculogastrointestinal Muscular Dystrophy	Cachexia, Ptosis	ORPHA:1876
Ethylene Glycol Poisoning	Nausea, Gastritis, Vomiting	ORPHA:31826
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Cryptorchidism, Premature pubarche	ORPHA:457205
Xeroderma Pigmentosum, Complementation Group C	Ectropion, Conjunctivitis, Entropion, Keratitis	OMIM:278720
Distal Deletion 10P	Downslanted palpebral fissures, Hypoplasia of penis, Cryptorchidism, Polycystic ovaries	ORPHA:1580
Amyotrophic Lateral Sclerosis	Spasticity, Fasciculations, Babinski sign, Cachexia, Paralysis	ORPHA:803
Townes-Brocks Syndrome	Abnormal vagina morphology, Hearing impairment, Cryptorchidism, Blepharophimosis, Rectoperineal f...	ORPHA:857
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary thyroid ...	ORPHA:97290
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small scrotum, Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Tachypnea, Cirrhosis,...	OMIM:613658
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Cataract, Aortic valve stenosis, Vomiting, High-frequency hearing impairment, ...	OMIM:176690
Autosomal Recessive Multiple Pterygium Syndrome	Low-set ears, Small scrotum, Hearing impairment, Cryptorchidism, Abnormal gastrointestinal tract ...	ORPHA:2990
Heterotaxy, Visceral, 1, X-Linked	Low-set ears, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocar...	OMIM:306955
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Recurrent upper respiratory tract infections, Periodontitis	OMIM:217090
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Civatte bodies, Congestive heart failure...	OMIM:264800
Intellectual Disability-Strabismus Syndrome	Low-set ears, Hearing impairment, Recurrent otitis media, Cryptorchidism, Chronic constipation, E...	ORPHA:363528
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Elevated circulating luteinizing hormone level, Supernumerary lacrimal punctum, Lacrimal gland hy...	ORPHA:572333
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Growth delay, Cryptorchidism, Submucous cleft hard palate, Upslanted...	ORPHA:250999
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:613095
Prothrombin Deficiency, Congenital	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P...	OMIM:613679
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Low-set ears, Growth delay, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine g...	ORPHA:1194
Bardet-Biedl Syndrome 19	Renal hypoplasia, Hearing impairment, Hypogonadism, External genital hypoplasia, Obesity, Renal i...	OMIM:615996
Intellectual Developmental Disorder, Autosomal Dominant 21	Epicanthus, Long eyelashes, Cryptorchidism	OMIM:615502
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Cutis laxa	OMIM:614100
Short Stature-Micrognathia Syndrome	Small scrotum, Cataract, Gastroesophageal reflux, Rhizomelia, Failure to thrive, Downslanted palp...	OMIM:617164
Cranioectodermal Dysplasia 2	Low-set ears, Cholestasis, Hyperbilirubinemia, Sparse eyelashes, Epicanthus, Ectodermal dysplasia...	OMIM:613610
Qazi-Markouizos Syndrome	Cryptorchidism, Chronic constipation, Abdominal distention	ORPHA:3010
Refsum Disease	Nail dysplasia, Dry skin	ORPHA:773
Paroxysmal Cold Hemoglobinuria	Diarrhea, Abnormal urinary color, Nausea and vomiting, Autoimmune hemolytic anemia, Coombs-positi...	ORPHA:90035
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Primary Peritoneal Carcinoma	Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain	ORPHA:168829
Polyarteritis Nodosa	Abnormal lung morphology, Weight loss, Pleuritis, Pericarditis	ORPHA:767
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Neonatal death	OMIM:613730
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Hypogonadism	OMIM:251240
Athyreosis	Thyroid agenesis, Hypothyroidism, Constipation, Abdominal distention, Feeding difficulties	ORPHA:95713
Seckel Syndrome 7	Severe short stature, Central hypothyroidism, Intrauterine growth retardation, Primary amenorrhea...	OMIM:614851
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Bifid scrotum, Downslanted palpebral fissures, Eyelid coloboma, Ptosis...	ORPHA:2211
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Fine hair, Abnormal female external genitalia morphology, Dry skin, Aplasia/H...	ORPHA:2637
Greenberg Dysplasia	Low-set ears, Bone marrow hypocellularity, Abnormal lung lobation, Hepatosplenomegaly, Increased ...	OMIM:215140
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Low-set ears, Gastroesophageal reflux, Depression, Growth delay, Macrotia, Cryptorchidism, Upslan...	OMIM:300260
Cholestasis, Intrahepatic, Of Pregnancy, 1	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru...	OMIM:147480
Familial Glucocorticoid Deficiency	Diarrhea, Impaired cortisol response to insulin stimulation test, Decreased circulating dehydroep...	ORPHA:361
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy...	ORPHA:99330
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Decreased response to growth hormone stimulation test, Cryptorchidism, Adrenal hypoplasia, Microp...	OMIM:614732
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Nail dysplasia, Alopecia, Sparse eyebrow, Sparse eyelashes	OMIM:615704
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Abnormal lung ...	OMIM:615415
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Hypothyroidism Due To Tsh Receptor Mutations	Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr...	ORPHA:90673
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Ureterocel...	ORPHA:261265
Bardet-Biedl Syndrome 22	Hypogonadism	OMIM:617119
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Growth delay, Intrauterine growth retardation, Reduced renal corticomedullary differentiation, Sp...	OMIM:618541
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis...	OMIM:608800
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Low-set ears, Growth delay, Hearing impairment, Downslanted palpebral fissures, Prominent ear hel...	OMIM:618659
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Oculocerebrorenal Syndrome Of Lowe	Periodontitis, Cryptorchidism, Hematuria, Feeding difficulties in infancy, Hypophosphatemia, Prox...	ORPHA:534
Hurler Syndrome	Depression, Growth delay, Hearing impairment, Cardiomyopathy, Thick eyebrow, Splenomegaly, Angina...	ORPHA:93473
Hypertelorism-Microtia-Facial Clefting Syndrome	Severe short stature, Conductive hearing impairment, Atresia of the external auditory canal, Hors...	ORPHA:2213
Fructose-1,6-Bisphosphatase Deficiency	Increased urinary glycerol, Apnea, Lethargy, Hepatomegaly, Tachycardia	OMIM:229700
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Sparse eyebrow, Highly arched eyebrow, Eczematoid dermatitis, Lo...	ORPHA:3132
Dyskeratosis Congenita, Digenic	Gastroesophageal reflux, Oral leukoplakia, Failure to thrive, Bilateral ptosis, Decreased testicu...	OMIM:620040
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Low-set ears, Highly arched eyebrow, Unilateral renal agenesis, Hearing impairment, Downslanted p...	OMIM:619951
Acrofacial Dysostosis, Catania Type	Hypospadias, Cryptorchidism, Downslanted palpebral fissures	OMIM:101805
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Spastic tetraplegia, Tetraplegia, Hypertonia	OMIM:608033
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Intra...	OMIM:615486
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu...	ORPHA:98793
Aniridia-Absent Patella Syndrome	Ptosis, Cryptorchidism	ORPHA:1069
Ornithine Transcarbamylase Deficiency	Hepatic failure, Splenomegaly	ORPHA:664
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary adenoma, Increased circulating cortisol level, Increased circu...	ORPHA:97289
Craniosynostosis With Fibular Aplasia	Cryptorchidism	OMIM:218550
Parkinsonian-Pyramidal Syndrome	Spasticity, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Bradykines...	ORPHA:171695
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Weight loss, Lymphadenopathy, Neoplasm of the lung	ORPHA:142
Riboflavin Deficiency	Dicarboxylic aciduria, Lethargy, Poor suck	OMIM:615026
Monosomy 9P	Low-set ears, Highly arched eyebrow, Atresia of the external auditory canal, Downslanted palpebra...	ORPHA:261112
Basan Syndrome	Epidermal acanthosis, Nail dystrophy	OMIM:129200
Dermatoosteolysis, Kirghizian Type	Dystrophic toenail, Dystrophic fingernails, Abnormality of the nail, Skin ulcer	ORPHA:1657
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter...	OMIM:301220
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Failure to thrive, Aspiration pneumonia, Progressive spastic quadriplegia, Pancreatitis, Nonprogr...	ORPHA:431361
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Recurrent otitis media, Asplenia, Male infertility	OMIM:618948
Gitelman Syndrome	Diarrhea, Nausea and vomiting, Type II diabetes mellitus, Parathyroid adenoma, Tubulointerstitial...	ORPHA:358
Infant Botulism	Mydriasis, Hypotension, Xerostomia, Hypertension, Ptosis, Keratoconjunctivitis sicca, Constipatio...	ORPHA:178478
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Gastroesophageal reflux, Hearing impairment, Low-set, posteriorly rotated ears, Post...	ORPHA:494344
Cholera	Hypovolemic shock, Hypotension, Diarrhea, Vomiting, Acute kidney injury, Aspiration pneumonia, Pa...	ORPHA:173
Combined Oxidative Phosphorylation Deficiency 41	Hearing impairment, Elevated circulating creatine kinase concentration, Cardiomegaly, Nonimmune h...	OMIM:618838
Cowden Syndrome 6	Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele tes...	OMIM:615109
Limited Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220402
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Hypospadias, Downslanted palpebral fissures, Overfolded helix, Glossoptosis,...	ORPHA:436003
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu...	ORPHA:177904
Hypophosphatasia, Infantile	Nephrocalcinosis, Vomiting, Disproportionate short-limb short stature, Failure to thrive, Phospho...	OMIM:241500
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Epidermal acanthosis	ORPHA:2199
King-Denborough Syndrome	Downslanted palpebral fissures, Bilateral ptosis, Bilateral cryptorchidism, Cryptorchidism, Ptosis	OMIM:619542
Trisomy 18	Webbed neck, Abnormal morphology of female internal genitalia, Low-set, posteriorly rotated ears,...	ORPHA:3380
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Short stature, Growth delay	OMIM:612527
Congenital Disorder Of Glycosylation, Type Ij	Jaundice, Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Cryptorchidism	OMIM:608093
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Agammaglobulinemia, Aganglionic megacolon, Anemia, Abnormality of the pancreas	ORPHA:935
19P13.12 Microdeletion Syndrome	Precocious puberty, Aortic regurgitation, Low-set ears, Conductive hearing impairment, Obesity, I...	ORPHA:254346
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Hearing impairment, Cardiomyopathy, Chro...	OMIM:610717
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Chronic kidney disease, Elevated circ...	ORPHA:84081
Triploidy	Iris coloboma, Cataract, Intestinal malrotation, Low-set, posteriorly rotated ears, Abnormality o...	ORPHA:3376
Enteric Anendocrinosis	Cholestatic liver disease, Type I diabetes mellitus, Vomiting, Diarrhea, Malabsorption, Portal hy...	ORPHA:83620
Benign Samaritan Congenital Myopathy	Epicanthus, Lethargy	ORPHA:324581
Interstitial Lung Disease 2	Cirrhosis, Increased circulating antibody level	OMIM:178500
Blepharophimosis-Impaired Intellectual Development Syndrome	Low-set ears, Highly arched eyebrow, Sparse eyebrow, Recurrent pneumonia, Gastroesophageal reflux...	OMIM:619293
Hermansky-Pudlak Syndrome 5	Epistaxis, Bruising susceptibility, Ocular albinism, Impaired ADP-induced platelet aggregation, M...	OMIM:614074
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Polysplenia, Supernumerary nipple, Increased circulating IgE level, Splenome...	ORPHA:373
Ciliary Dyskinesia, Primary, 53	Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Situs inversus totalis, Chronic sinus...	OMIM:620642
Achalasia, Familial Esophageal	Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:200400
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Splenomegal...	OMIM:230500
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu...	ORPHA:177901
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia	ORPHA:1930
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Erythema, Xerostomia, Oral leukoplakia, Eczematoid dermatitis, Skin ulcer, Abn...	ORPHA:2907
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cataract, Low-set, posteriorly rotated ears, Furrowed tongue, Cryptorchidism, Abnormal antihelix ...	ORPHA:1387
49,Xxxxy Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C...	ORPHA:96264
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Acanthosis nigricans, Pancreatitis, Hepa...	ORPHA:79084
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Ruvalcaba Syndrome	Delayed puberty, Cryptorchidism, Downslanted palpebral fissures	OMIM:180870
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Congenital hypothyroidism, Cryptorchidism, Redundant neck skin, Epicanthus,...	ORPHA:2519
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Diarrhea, Recurrent aphthous stomatitis, Recurrent sinusitis, Colitis	OMIM:613960
Pyomyositis	Myositis, Weight loss, Leukocytosis, Recurrent cutaneous abscess formation	ORPHA:764
Fructose-1,6-Bisphosphatase Deficiency	Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Increased urinary gl...	ORPHA:348
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Low-set ears, Dry skin, Hyperbilirubinemia, Cryptorchidism, Sparse eyelashes, Ventricular septal ...	OMIM:210710
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections	ORPHA:596
Opitz Gbbb Syndrome	Low-set ears, Hearing impairment, Ankyloglossia, Cryptorchidism, Feeding difficulties in infancy,...	ORPHA:2745
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:226316
Cholestasis, Intrahepatic, Of Pregnancy 3	Intrahepatic cholestasis, Increased serum bile acid concentration during pregnancy, Jaundice, Abn...	OMIM:614972
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Vomiting, Failure to thrive, Congenital sensorineural hearing impairment, Renal insufficiency, Se...	OMIM:619147
Frasier Syndrome	Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G...	ORPHA:347
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Low-set ears, Supernumerary nipple, Recurrent otitis media, Postnatal growth retardation, Chronic...	OMIM:213980
Tatton-Brown-Rahman Syndrome	Neuroendocrine neoplasm, Tricuspid regurgitation, Obesity, Thick eyebrow, Mitral regurgitation, C...	ORPHA:404443
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo...	OMIM:300653
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Low-set ears, Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Epicanthus, Hepatomeg...	OMIM:266920
Kagami-Ogata Syndrome	Postnatal growth retardation, Large for gestational age, Hepatoblastoma, Constipation, Blepharoph...	ORPHA:254519
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, De...	OMIM:608594
Familial Hypoaldosteronism	Hypotension, Diarrhea, Failure to thrive, Adrenal insufficiency, Increased circulating renin leve...	ORPHA:427
Congenital Neuronal Ceroid Lipofuscinosis	Low-set ears, Increased circulating lactate dehydrogenase concentration, Aplasia/Hypoplasia of th...	ORPHA:168486
Aminopterin Syndrome Sine Aminopterin	Low-set ears, Highly arched eyebrow, Intrauterine growth retardation, Cryptorchidism, Decreased b...	OMIM:600325
Noonan Syndrome 9	Sparse eyebrow, Ptosis, Cryptorchidism, Downslanted palpebral fissures	OMIM:616559
X-Linked Intellectual Disability, Nascimento Type	Abnormal hair whorl, Lumbar hypertrichosis, Dry skin, Nail dystrophy, Cryptorchidism, Low posteri...	ORPHA:163956
Neovascular Glaucoma	Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Retinal vascula...	ORPHA:94058
Bazex-Dupre-Christol Syndrome	Atopic dermatitis, Hypohidrosis, Acne inversa, Eczematoid dermatitis	OMIM:301845
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Cryptorchidism, Neonatal death	OMIM:613390
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ...	ORPHA:98907
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Arrhythmia, Pancreatic islet cell...	ORPHA:892
Schwartz-Jampel Syndrome	Blepharospasm, Low-set, posteriorly rotated ears, Decreased testicular size, Abnormal eyebrow mor...	ORPHA:800
Short Stature, Microcephaly, And Endocrine Dysfunction	Cataract, Unilateral renal agenesis, Dilated cardiomyopathy, Renal hypoplasia, Disproportionate s...	OMIM:616541
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Multiple Sulfatase Deficiency	Thick eyebrow, Ichthyosis, Splenomegaly, Sensorineural hearing impairment, Mucopolysacchariduria,...	ORPHA:585
Lacrimoauriculodentodigital Syndrome	Low-set ears, Xerostomia, Cryptorchidism, Sensorineural hearing impairment, Keratoconjunctivitis,...	ORPHA:2363
Argininemia	Portal fibrosis, Vomiting, Micronodular cirrhosis, Cholestasis, Oroticaciduria, Postnatal growth ...	OMIM:207800
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia, Ptosis	ORPHA:3217
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Fucosidosis	Hearing impairment, Vascular skin abnormality, Generalized hyperkeratosis, Failure to thrive, Abn...	ORPHA:349
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy alopecia, Circumungu...	ORPHA:79153
Isolated Succinate-Coq Reductase Deficiency	Spasticity, Spastic paraparesis, Babinski sign, Left ventricular hypertrophy, Weight loss, Ataxia...	ORPHA:3208
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Bronchiectasis	OMIM:619468
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Failure to thrive, Glycosuria...	ORPHA:2089
Amme Complex	Sensorineural hearing impairment, Hematuria, Elliptocytosis	OMIM:300194
Folinic Acid-Responsive Seizures	Abdominal distention, Sensorineural hearing impairment	ORPHA:79097
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Low-set ears, Highly arched eyebrow, Gastroesophageal reflux, Failure to thrive, Downslanted palp...	ORPHA:329224
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Cataract, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, E...	ORPHA:394
Pallister-Hall Syndrome	Atresia of the external auditory canal, Cryptorchidism, Anal atresia, Ectopic kidney, Precocious ...	OMIM:146510
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Iris atrophy, Babinski sign, Parkinsonism, Ptosis, Ataxia, Bradykinesia	OMIM:146500
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Bronchiectasis, Chronic rhinitis	OMIM:617577
Acrokeratosis Verruciformis	Acantholysis, Epidermal acanthosis	OMIM:101900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Progeroid facial appearance, Decreased HDL cholesterol concentration...	ORPHA:280365
Snijders Blok-Fisher Syndrome	Epicanthus, Cryptorchidism	OMIM:618604
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Highly arched eyebrow, Low-set ears, Failure to thrive, Postnatal growth r...	OMIM:243310
Lethal Congenital Contracture Syndrome 10	Low-set ears, Downslanted palpebral fissures, Oligohydramnios, Ventricular septal defect, Cardiom...	OMIM:617022
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita...	OMIM:614736
Yellow Nail Syndrome	Biliary tract neoplasm, Recurrent respiratory infections, Hypoplasia of lymphatic vessels, Sinusi...	ORPHA:662
C Syndrome	Low-set ears, Clitoral hypertrophy, Failure to thrive, Renal cortical cysts, Upslanted palpebral ...	OMIM:211750
Vitamin K Antagonist Embryofetopathy	Cataract, Hearing impairment, Intrauterine growth retardation, Macroglossia, Microtia	ORPHA:1914
Orofaciodigital Syndrome Type 4	Low-set ears, Abnormality of the outer ear, Perineal fistula, Rectal atresia, Anal atresia, Recto...	ORPHA:2753
Arthrogryposis And Ectodermal Dysplasia	Trichiasis, Dry skin, Nail dysplasia, Trichodysplasia, Absent eyebrow	OMIM:601701
Dystonia 31	Dysphagia, Abnormal posturing	OMIM:619565
Congenital Sialidosis Type 2	Low-set ears, Hearing impairment, Ascites, Abnormal heart morphology, Hepatosplenomegaly, Respira...	ORPHA:93400
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Alopecia, Small scrotum, Sparse lateral eyebrow, Dystrophic toenail, Hypog...	ORPHA:3253
Bcard Syndrome	Low-set ears, Cataract, Bruising susceptibility, Arterial rupture, Postnatal growth retardation, ...	OMIM:612394
Distal Monosomy 7Q36	Upslanted palpebral fissure, Hypoplasia of penis, Cryptorchidism	ORPHA:1636
Acrocallosal Syndrome	Hypospadias, Cryptorchidism	ORPHA:36
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Hypotension, Diarrhea, Gastroesophageal reflux, Apnea, Feeding difficulties in inf...	OMIM:608643
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Low-set ears, Sparse eyebrow, Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Downsl...	ORPHA:73246
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Keratoconus, Microcornea, R...	OMIM:225400
Autoimmune Polyendocrinopathy Type 2	Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary...	ORPHA:3143
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	ORPHA:1302
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Methylmalonic aciduria, Vomiting, Failure to thrive	OMIM:614265
Cog1-Cdg	Rhizomelia, Failure to thrive, Downslanted palpebral fissures, Low-set, posteriorly rotated ears,...	ORPHA:263508
Glutathionuria	Constipation, Eczematoid dermatitis	OMIM:231950
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Lethargy, Dilated cardiomyopathy, 3-Methylglutaconic aciduria	OMIM:618120
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Recurrent otitis media, Po...	ORPHA:96184
Complement Factor I Deficiency	Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, Glomerulonephritis, Septic arthritis...	OMIM:610984
N-Acetylglutamate Synthase Deficiency	Vomiting, Failure to thrive, Respiratory distress, Lethargy, Tachypnea, Anorexia	OMIM:237310
Acute Lung Injury	Pneumonia, Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine concentr...	ORPHA:178320
Erythermalgia, Primary	Pruritus, Keratoconjunctivitis sicca	OMIM:133020
Congenital Factor Xi Deficiency	Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac...	ORPHA:329
Neurooculocardiogenitourinary Syndrome	Low-set ears, Bilateral cryptorchidism, Redundant neck skin, Sensorineural hearing impairment, Ca...	OMIM:618652
Distal Renal Tubular Acidosis	Diarrhea, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Renal potassium wasting...	ORPHA:18
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Hypothyroidism, Cryptorchidism	OMIM:613970
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Acne	OMIM:612847
Hermansky-Pudlak Syndrome 1	Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept...	OMIM:203300
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Hypogonadism, Abnormal eyebrow morphology, Telecanthus, Ileus, Splenomegaly, Sensorin...	ORPHA:163746
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych...	OMIM:619481
Neuroendocrine Neoplasm Of Appendix	Increased serum serotonin, Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anore...	ORPHA:100079
Parkes Weber Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Skin ulcer, Urinary retention, Abn...	ORPHA:90307
Citrullinemia, Classic	Vomiting, Failure to thrive, Oroticaciduria, Lethargy, Cirrhosis, Protein avoidance, Hepatomegaly	OMIM:215700
Delayed Puberty, Self-Limited	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre...	OMIM:619613
Congenital Disorder Of Glycosylation, Type Id	Bifid uvula, Diarrhea, Vomiting, Failure to thrive, Villous atrophy, Epicanthus, High palate, Iri...	OMIM:601110
C3 Glomerulopathy	Paraproteinemia, Elevated circulating creatinine concentration, Decreased circulating complement ...	ORPHA:329918
Cystic Fibrosis	Recurrent pneumonia, Bronchiectasis, Biliary cirrhosis, Diarrhea, Failure to thrive, Exocrine pan...	OMIM:219700
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Low-set ears, Velopharyngeal insufficiency, Tricuspid regurgitation, Vesicoureteral reflux, Upsla...	OMIM:620663
Intellectual Developmental Disorder, X-Linked 12	Depression, Microphallus, Cryptorchidism, Sensorineural hearing impairment, Truncal obesity, Incr...	OMIM:300957
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Keratitis, Corneal scarring, Sparse eyelashes, Recurrent corneal eros...	OMIM:148210
Musculocontractural Ehlers-Danlos Syndrome	Hearing impairment, Abnormal mesentery morphology, Cryptorchidism, High palate, Recurrent skin in...	ORPHA:2953
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Disproportionate short stature, Postnatal growth retardation, Intrauterine gr...	OMIM:210720
Tonne-Kalscheuer Syndrome	Downslanted palpebral fissures, Decreased testicular size, Cryptorchidism, Micropenis, Hypospadias	OMIM:300978
Chand Syndrome	Imperforate hymen, Nail dysplasia, Dry skin, Curly hair	ORPHA:1401
Nestor-Guillermo Progeria Syndrome	Alopecia, Sparse eyebrow, Dry skin, Nail dystrophy, Sparse eyelashes, Sparse scalp hair	OMIM:614008
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Downslanted palpebral fissures, Decreased circulating IgA level, Large for gestational age, Crypt...	ORPHA:457485
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Developmental And Epileptic Encephalopathy 41	Lethargy, Nephrocalcinosis, Feeding difficulties	OMIM:617105
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Eczematoid dermatitis, Failure to thrive, Downslanted palpebral fissures, Obesity, Thick eyebrow,...	ORPHA:369950
Mednik Syndrome	Cataract, Microcolon, Erythema, Hepatic fibrosis, Volvulus, Diarrhea, Cholestasis, Upslanted palp...	OMIM:609313
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Conjunctivitis, Periorbital dermoid cyst, Lacrimal duct stenosis	OMIM:615560
Non-Distal Duplication 13Q	Abnormal eyelash morphology, Thick eyebrow, Cryptorchidism, Synophrys	ORPHA:1702
Spontaneous Periodic Hypothermia	Diarrhea, Hyperhidrosis, Skin rash	ORPHA:29822
Down Syndrome	Conductive hearing impairment, Duodenal stenosis, Brushfield spots, Protruding tongue, Acute mega...	OMIM:190685
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Cousin Syndrome	Low-set ears, Microcornea, Microglossia, Short palpebral fissure, Hearing impairment, Microtia, f...	OMIM:260660
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Alopecia totalis, Anonychia, Acantholysis, Absent fingernail	OMIM:609638
Argininosuccinic Aciduria	Aminoaciduria, Hepatic fibrosis, Vomiting, Failure to thrive, Oroticaciduria, Elevated circulatin...	OMIM:207900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Palmar hyperkeratosis, Skin fragility with non-scarring blistering, Plantar hyperkeratosis, Pruri...	ORPHA:79399
Familial Thrombocytosis	Chronic myelogenous leukemia, Vertigo, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombo...	ORPHA:71493
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Apneic episodes in infancy, Lethargy, 2-ethylhydracylic aciduria	OMIM:610006
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Highly arched eyebrow, Recurrent pneumonia, Eczematoid dermatitis, Abnormal earlobe morphology, R...	ORPHA:500159
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc...	ORPHA:206484
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Intrauterine growth retardation, Feeding difficulties, Cardiomyopathy, Thrombocytopenia	OMIM:617710
Cohen Syndrome	High, narrow palate, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the tongue, Downsl...	ORPHA:193
Prader-Willi Syndrome	Premature adrenarche, Small scrotum, Central adrenal insufficiency, Cryptorchidism, Hypoplastic l...	ORPHA:739
Nelson Syndrome	Increased circulating cortisol level, Pituitary carcinoma, Increased circulating prolactin concen...	ORPHA:199244
Volvulus Of Midgut	Telecanthus, Neonatal intestinal obstruction, Long palpebral fissure, Constipation, Abdominal dis...	OMIM:193250
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Coffin-Siris Syndrome 2	Hearing impairment, Long eyelashes, Thick eyebrow, Feeding difficulties, Cryptorchidism, Intraute...	OMIM:614607
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hearing impairment, Hyperbilirubinemia, Hepatic steatosis, Ventricular septal defect, Hematuria, ...	OMIM:619475
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Decreased testicular size, Cryptorchidism	ORPHA:85279
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomy...	ORPHA:565612
Emanuel Syndrome	Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Cryptorchidism, ...	OMIM:609029
Susac Syndrome	Vertigo, Nausea and vomiting, Sensorineural hearing impairment, Tinnitus, Lethargy, Apathy	ORPHA:838
Acrokeratosis Verruciformis Of Hopf	Leukonychia, Epidermal acanthosis, Anonychia, Nail dystrophy	ORPHA:79151
Ciliary Dyskinesia, Primary, 2	Recurrent respiratory infections, Bronchiectasis, Otitis media, Sinusitis	OMIM:606763
2Q23.1 Microdeletion Syndrome	Highly arched eyebrow, Hypoplasia of penis, Cryptorchidism, Synophrys	ORPHA:228402
Long-Olsen-Distelmaier Syndrome	Low-set ears, Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Downslant...	OMIM:620609
Isotretinoin-Like Syndrome	Aortic valve stenosis, Gastroesophageal reflux, Atresia of the external auditory canal, Anotia, P...	ORPHA:2306
Autosomal Dominant Hypocalcemia	Abnormal fingernail morphology, Dry skin, Alopecia, Abnormality of the nail	ORPHA:428
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Low-set ears, Elevated amniotic fluid alpha-fetoprotein, Sensorineural hearing impairment, Gastro...	ORPHA:423479
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:93111
Menkes Disease	Gastrointestinal hemorrhage, Spontaneous hematomas, Osteomyelitis, Dry skin, Malabsorption, Nause...	ORPHA:565
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre...	OMIM:219080
Achondrogenesis Type 1A	Polyhydramnios, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Abdominal distention	ORPHA:93299
Ivic Syndrome	Severe short stature, Hearing impairment, Leukocytosis, Arrhythmia, Thrombocytopenia, Anal atresi...	ORPHA:2307
Multiple Endocrine Neoplasia Type 4	Erythema, Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Incre...	ORPHA:276152
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Alopecia	OMIM:203550
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Sparse hair, Skin ulcer, Fine hair	ORPHA:1806
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Increased circulating ferritin concentra...	OMIM:604290
Hydatidiform Mole	Menometrorrhagia, Nausea and vomiting, Enlarged uterus, Hyperthyroidism, Anemia	ORPHA:99927
Ablepharon-Macrostomia Syndrome	Hypoplastic fingernail, Premature skin wrinkling, Dry skin, Redundant skin, Absent eyelashes, Hyp...	OMIM:200110
Tetraploidy	Hydronephrosis, Hypoplasia of the ear cartilage, Aplasia/Hypoplasia of the thymus, Aplasia/Hypopl...	ORPHA:3305
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Epicanthus, Cryptorchidism, Aplasia/Hypoplasia of the eyebrow	ORPHA:2701
Central Neurocytoma	Tinnitus, Lethargy, Depression, Nausea and vomiting	ORPHA:73256
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Dry skin, Sparse hair, Sparse scalp hair	OMIM:612132
Abcd Syndrome	Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Large for gestational age,...	OMIM:600501
Neurodegeneration With Brain Iron Accumulation 2B	Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Hypertonia, Bradykin...	OMIM:610217
Alg11-Cdg	Dry skin	ORPHA:280071
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Renal hypoplasia, Hearing impairment, Downslanted palpebral fissures, Intrauterine growth retarda...	OMIM:616817
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Low-set ears, Rhizomelia, Downslanted palpebral fissures, Thick eyebrow, Hyperextensible skin, Ca...	OMIM:245600
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Increased circulating ACTH level, Striae distensae, Ecchymosis, Facial erythem...	OMIM:219090
Lacrimoauriculodentodigital Syndrome 3	Lacrimal duct aplasia, Xerostomia, Hearing impairment, Cupped ear, Absent lacrimal punctum, Absen...	OMIM:620193
Juvenile Sialidosis Type 2	Low-set ears, Visceromegaly, Hearing impairment, Abnormal heart morphology, Hepatosplenomegaly, H...	ORPHA:93399
Satoyoshi Syndrome	Alopecia universalis, Abnormality of the uterus, Abnormal hair morphology, Abnormality of the ova...	ORPHA:3130
Diarrhea 4, Malabsorptive, Congenital	Vomiting, Diarrhea, Failure to thrive	OMIM:610370
Kbg Syndrome	Telecanthus, Thick eyebrow, Cryptorchidism, Long palpebral fissure, Synophrys	ORPHA:2332
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Infancy onset short-trunk short stature, Epicanthus, Feeding difficu...	ORPHA:508488
Warburg Micro Syndrome 4	Small scrotum, Decreased testicular size, Cryptorchidism, Ptosis, Micropenis	OMIM:615663
Caudal Duplication	Abnormal penis morphology, Uterus didelphys, Cryptorchidism	ORPHA:1756
Pigmented Nodular Adrenocortical Disease, Primary, 1	Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,...	OMIM:610489
Primary Progressive Freezing Gait	Postural tremor, Rigidity, Babinski sign, Clonus, Bradykinesia, Frequent falls	ORPHA:75567
Classical-Like Ehlers-Danlos Syndrome Type 2	Periodontitis, Bruising susceptibility, Bilateral ptosis, Redundant skin, Cryptorchidism, Astigma...	ORPHA:536532
Glycogen Storage Disease Of Heart, Lethal Congenital	Anasarca, Cardiomyopathy, Ascites, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Periph...	OMIM:261740
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Acanthocytosis, Tremor, Rigidity, Abnormality of extrapyramidal motor ...	OMIM:234200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Alopecia	OMIM:242510
Genitopalatocardiac Syndrome	Low-set ears, Multicystic kidney dysplasia, Downslanted palpebral fissures, Abnormal mesentery mo...	ORPHA:2075
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Sandhoff Disease, Juvenile Form	Diarrhea, Failure to thrive, Constipation, Urinary incontinence, Dysphagia	ORPHA:309162
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Clumsiness...	ORPHA:199351
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Hearing impairment, Cleft soft palate, Cryptorchidism, Chordee, Iris colob...	ORPHA:268261
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Hypogonadotropic hypogonadism, Alopecia	OMIM:612079
Peripartum Cardiomyopathy	Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Abdominal pain,...	ORPHA:563
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Dysphagia	ORPHA:2357
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Dry skin, Elevated circulating alkaline phosphatase concentration, Ventricular septal defect, Epi...	OMIM:280000
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Diarrhea, Dilated cardiomyopathy, Third degree atrioventricular block...	OMIM:601419
Sifrim-Hitz-Weiss Syndrome	Short palpebral fissure, Cryptorchidism, Upslanted palpebral fissure, Hypogonadotropic hypogonadi...	OMIM:617159
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Supernumerary nipple, Ectopic thymus tissue, Postnatal growth r...	OMIM:113620
Scheie Syndrome	Splenomegaly, Sensorineural hearing impairment, Mucopolysacchariduria, Hepatomegaly, Rhinitis	ORPHA:93474
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Hearing impairment, Cryptorchidism, Epicanthus, Hypoplastic labia majora, Right ven...	OMIM:268310
Meacham Syndrome	Aortic valve stenosis, Abnormal vagina morphology, Hydrometrocolpos, Abnormality of the spleen, C...	ORPHA:3097
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Low-set ears, Small scrotum, Protruding tongue, Cryptorchidism, Sensorineural hearing impairment,...	OMIM:309580
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Hypogonadism, Abnormal eyebrow morphology, External genital hypoplasia, Thin eyebrow, Abnormal na...	ORPHA:3220
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Mulibrey Nanism	Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Recurrent lower respiratory tract ...	OMIM:253250
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Alagille Syndrome	Keratoconus, Failure to thrive, Downslanted palpebral fissures, Cholestasis, Abnormality of the u...	ORPHA:52
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cholelithiasis, Downslanted palpebral fissures, Recurrent otitis media, Hepat...	OMIM:301066
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Aspiration pneumonia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemi...	ORPHA:94093
Cutis Laxa, Autosomal Recessive, Type Iiia	Low-set ears, Cataract, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Hyper...	OMIM:219150
Aromatase Deficiency	Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ...	ORPHA:91
Van Esch-O'Driscoll Syndrome	Bifid uvula, Short palpebral fissure, Intrauterine growth retardation, Upslanted palpebral fissur...	OMIM:301030
Multiple Sulfatase Deficiency	Periorbital edema, Hearing impairment, Ichthyosis, Splenomegaly, Mucopolysacchariduria, Hepatomegaly	OMIM:272200
Cartilage-Hair Hypoplasia	Anal stenosis, Sparse eyebrow, Absent pubertal growth spurt, Neonatal short-limb short stature, L...	OMIM:250250
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism, Premature graying of hair	OMIM:300845
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Petechiae, Sensorineural hearing impairment, Congenital thrombocytopenia, Amegak...	OMIM:605432
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Nausea and vomiting, Decreased fertility, Epicanthus, Arrhythmia, Rectal prolapse, S...	ORPHA:285
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Hypohidrosis, Eczematoid dermatitis	ORPHA:1810
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Holoprosencephaly	Abnormality of the spleen, Cryptorchidism, Abnormal antihelix morphology, Ventricular septal defe...	ORPHA:2162
Lymphedema-Distichiasis Syndrome	Chylothorax, Recurrent corneal erosions, Distichiasis, Ptosis, Ectropion, Conjunctivitis, Corneal...	OMIM:153400
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Xant...	OMIM:232200
Acute Intermittent Porphyria	Diarrhea, Urinary retention, Pseudobulbar paralysis, Dark urine, Increased urinary porphobilinoge...	ORPHA:79276
14Q24.1Q24.3 Microdeletion Syndrome	Synophrys, Cryptorchidism, Downslanted palpebral fissures	ORPHA:401935
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Precocious puberty, Irregular menstruation, Alopecia, Clitoral hypertrophy, Long penis, Ambiguous...	ORPHA:90795
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Bifid uvula, Anal stenosis, Gastroesophageal reflux, Multicystic kidney dysplasia, ...	OMIM:300373
Juvenile Neuronal Ceroid Lipofuscinosis	Poor motor coordination, Aspiration pneumonia, Abnormal circulating enzyme concentration or activ...	ORPHA:79264
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Progressive hearing impairment, Decreased testi...	OMIM:616113
Semilobar Holoprosencephaly	Aspiration pneumonia, Abnormal gastrointestinal tract morphology, Sensorineural hearing impairmen...	ORPHA:220386
Alobar Holoprosencephaly	Aspiration pneumonia, Abnormal gastrointestinal tract morphology, Sensorineural hearing impairmen...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Aspiration pneumonia, Abnormal gastrointestinal tract morphology, Sensorineural hearing impairmen...	ORPHA:93926
Lobar Holoprosencephaly	Aspiration pneumonia, Abnormal gastrointestinal tract morphology, Sensorineural hearing impairmen...	ORPHA:93924
Achondrogenesis, Type Ib	Polyhydramnios, Hydrops fetalis, Edema, Abdominal distention	OMIM:600972
Hallermann-Streiff Syndrome	Sparse eyebrow, Fine hair, Dry skin, Cryptorchidism, Sparse eyelashes, Sparse hair, Sparse scalp ...	OMIM:234100
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Failure to thrive, Villous atrophy	OMIM:615863
Progressive Supranuclear Palsy	Blepharospasm, Bradykinesia, Tremor, Rigidity	ORPHA:683
Cutis Laxa, Autosomal Recessive, Type Iie	Highly arched eyebrow, Long eyelashes, Cutis laxa, Downslanted palpebral fissures	OMIM:619451
17Q24.2 Microdeletion Syndrome	Otosclerosis, Downslanted palpebral fissures, Recurrent otitis media, Failure to thrive in infanc...	ORPHA:529962
Paroxysmal Hemicrania	Conjunctival hyperemia, Palpebral edema, Rhinitis, Ptosis	ORPHA:157835
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Upslanted palpebral fissu...	ORPHA:284339
Rothmund-Thomson Syndrome	Sparse eyebrow, Diarrhea, Aplastic anemia, Vomiting, Infertility, Malar rash, Skin rash, Sparse e...	ORPHA:2909
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Malonyl-Coa Decarboxylase Deficiency	Vomiting, Diarrhea, Dilated cardiomyopathy, Elevated urine suberic acid level, Methylmalonic acid...	OMIM:248360
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Abdominal situs inversus, Megacystis, Low-set, posteriorly rota...	ORPHA:2604
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Flat Face-Microstomia-Ear Anomaly Syndrome	Small scrotum, Sparse eyebrow, Highly arched eyebrow, Telecanthus, Cryptorchidism, Blepharophimosis	ORPHA:1968
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Cholecystitis, Abdominal distention, Bilateral sensorineural hearing impair...	ORPHA:309271
Hurler-Scheie Syndrome	Thickened skin, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in u...	OMIM:607015
Thyroid Hypoplasia	Hypothyroidism, Constipation, Abdominal distention, Jaundice, Thyroid hypoplasia	ORPHA:95720
Pudendal Neuralgia	Scrotal pain, Dyspareunia, Erectile dysfunction	ORPHA:60039
Koolen-De Vries Syndrome	Abnormality of hair texture, Dry skin, Fair hair, Cryptorchidism	OMIM:610443
Capillary Malformation-Arteriovenous Malformation	Chylothorax, Vascular skin abnormality, Lymphedema, Abnormal heart morphology, Nonimmune hydrops ...	ORPHA:137667
Sucrase-Isomaltase Deficiency, Congenital	Abdominal pain, Diarrhea, Malabsorption, Nephrolithiasis	OMIM:222900
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co...	ORPHA:3453
Parkinson Disease, Late-Onset	Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:168600
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Seckel Syndrome 5	Clitoral hypertrophy, Downslanted palpebral fissures, Cryptorchidism, Blepharophimosis, Hypospadias	OMIM:613823
Disabling Pansclerotic Morphea Of Childhood	Skin ulcer, Lymphopenia, Morphea, Neutropenia, Elevated circulating C-reactive protein concentration	OMIM:620443
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Low-se...	OMIM:618494
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Intestinal malrotation, Cryptorchidism, Hepatopulmonary fusion, ...	OMIM:618280
Panbronchiolitis, Diffuse	Bronchiectasis	OMIM:604809
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Hypogonadism, Hypoplastic nipples, Nasolacrimal duct obstruction	OMIM:273400
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Yellow nails, Epidermal acanthosis, Nail dystrophy, Onycholysis	OMIM:148700
Chromosome 19P13.13 Deletion Syndrome	Vomiting, Diarrhea, Downslanted palpebral fissures, Constipation, Abdominal pain, Feeding difficu...	OMIM:613638
Glucose/Galactose Malabsorption	Glycosuria, Failure to thrive, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chr...	OMIM:606824
Metachromatic Leukodystrophy, Late Infantile Form	Urinary incontinence, Cholecystitis, Feeding difficulties in infancy, Abdominal distention, Bilat...	ORPHA:309256
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis	OMIM:614564
Hamamy Syndrome	Low-set ears, Sparse eyebrow, Hypochromic anemia, Sparse lateral eyebrow, Neck pterygia, Microcyt...	OMIM:611174
Primary Ciliary Dyskinesia	Polysplenia, Atelectasis, Recurrent otitis media, Pulmonary situs ambiguus, Respiratory tract inf...	ORPHA:244
Intellectual Developmental Disorder, Autosomal Dominant 47	Thin eyebrow, Cryptorchidism, Supernumerary nipple	OMIM:617635
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea...	OMIM:167800
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Hearing impairment, Cryptorchidism, Sensorineural hearing impairment, Epicanthus, F...	OMIM:607872
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Hematochezia, Low-set ears, Failure to thrive, Recurrent otitis media, Renal...	OMIM:619575
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Gastroesophageal reflux, Hyperlipidemia, Renal insufficiency, Congenital nephrot...	OMIM:256300
Nephronophthisis 9	Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Anemia,...	OMIM:613824
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Arrhythmia, Ptosis, Nausea, Chronic diarrhea, Hypergonadotropic hypogonadism	OMIM:615084
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis, Abetalipoproteinemia	ORPHA:157850
Chime Syndrome	Erythema, Acute leukemia, Abnormality of the outer ear, Hearing impairment, Skin ulcer, Tetralogy...	ORPHA:3474
Diphallia	Penoscrotal transposition, Bifid scrotum, Ectopic scrotum, Cryptorchidism, Bifid penis, Rectoperi...	ORPHA:227
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Gastroesophageal reflux, Vomiting, Failure to thrive, Hypogonadism, Intrauterine growth retardati...	ORPHA:79351
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Alagille Syndrome 1	Low-set ears, Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Macrotia, ...	OMIM:118450
Small Bowel Atresia	Vomiting, Failure to thrive, Feeding difficulties, Abdominal distention	ORPHA:1201
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overgrowth of external ge...	ORPHA:528
Middle Ear Neuroendocrine Tumor	Neuroendocrine neoplasm, Abnormal tympanic membrane morphology, Chronic noninfectious lymphadenop...	ORPHA:100084
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Vomiting, Mic...	OMIM:203700
Hyaline Fibromatosis Syndrome	Low-set ears, Diarrhea, Failure to thrive	OMIM:228600
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Growth delay, Polycythemia	OMIM:250800
Maculopapular Cutaneous Mastocytosis	Erythema, Diarrhea, Vomiting, Nausea, Abdominal pain	ORPHA:79457
Mohr-Tranebjaerg Syndrome	Aspiration pneumonia, Tremor, Ankle clonus, Agammaglobulinemia, Babinski sign, Apraxia, Abnormal ...	ORPHA:52368
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Failure to thrive, Alpha-amin...	OMIM:605711
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Prelingual sensorineural hearing impairment, Failure to thrive, Hypogonadism, Congenital bilatera...	ORPHA:73272
Combined Malonic And Methylmalonic Acidemia	Vomiting, Elevated circulating hepatic transaminase concentration, Failure to thrive, Methylmalon...	ORPHA:289504
Hand-Foot-Genital Syndrome	Uterus didelphys, Bifid scrotum, Chordee, Micropenis, Hypospadias, Longitudinal vaginal septum	OMIM:140000
Cranio-Osteoarthropathy	Osteoarthritis, Eczematoid dermatitis, Arthritis	ORPHA:1525
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Low-set ears, Grade III vesicoureteral reflux, Cryptorchidism, Urethral stricture, Epicanthus, Ch...	OMIM:619522
Sapho Syndrome	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Chronic d...	ORPHA:793
Urachal Cyst	Leukocytosis, Abscess, Peritonitis, Elevated circulating C-reactive protein concentration, Abdomi...	ORPHA:488
Craniofrontonasal Syndrome	Axillary pterygium, Downslanted palpebral fissures, Breast hypoplasia, Telecanthus, Cryptorchidis...	OMIM:304110
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion	OMIM:618773
Tetrasomy 9P	Abnormal earlobe morphology, Glue ear, Absent gallbladder, Cryptorchidism, Abnormal mitral valve ...	ORPHA:3310
Congenital Disorder Of Glycosylation, Type Iib	Generalized edema, Hypoplastic female external genitalia, Short palpebral fissure, Elevated circu...	OMIM:606056
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Isolated Anencephaly	Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes	ORPHA:563609
Treacher Collins Syndrome 3	Conductive hearing impairment, Downslanted palpebral fissures, Lower eyelid coloboma, Cleft palat...	OMIM:248390
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Cryptorchidism	OMIM:615633
Duplication Of Urethra	Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde...	ORPHA:237
13Q12.3 Microdeletion Syndrome	Atopic dermatitis, Vomiting, Failure to thrive, Hearing impairment, Upper eyelid edema, Obesity, ...	ORPHA:412035
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulatin...	OMIM:300291
Rubinstein-Taybi Syndrome	Low-set ears, Highly arched eyebrow, Hearing impairment, Downslanted palpebral fissures, Failure ...	ORPHA:783
Limbal Stem Cell Deficiency	Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s...	ORPHA:171673
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Low-set ears, Rhizomelia, Growth delay, Failure to thrive, Breast hypoplasia, Oligozoospermia, Di...	OMIM:614813
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Low-set ears, Webbed neck, Eczematoid dermatitis, Failure to thrive, Downslanted palpebral fissur...	OMIM:607721
Faciodigitogenital Syndrome, Autosomal Recessive	Hearing impairment, Downslanted palpebral fissures, Cryptorchidism, Proportionate short stature, ...	OMIM:227330
Mitchell-Riley Syndrome	Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I...	OMIM:615710
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Bannayan-Riley-Ruvalcaba Syndrome	Uterine neoplasm, Lymphedema, Subcutaneous hemorrhage, Cutis marmorata, Thyroid carcinoma, Hashim...	ORPHA:109
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Proteinuria, Renal cyst...	OMIM:208500
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Epidermal acanthosis	OMIM:615735
Coxoauricular Syndrome	Short stature, Atresia of the external auditory canal, Hearing impairment, Microtia	ORPHA:1508
Tyshchenko Syndrome	High, narrow palate, Low-set ears, Supernumerary nipple, Feeding difficulties, Intrauterine growt...	OMIM:615102
Acth Deficiency, Isolated	Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena...	OMIM:201400
Severe Acute Respiratory Syndrome	Acute infectious pneumonia	ORPHA:140896
Menke-Hennekam Syndrome 1	Low-set ears, Hearing impairment, Cryptorchidism, Chronic constipation, Epicanthus, Blepharophimo...	OMIM:618332
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Sparse eyebrow, Cupped ear, Ectopic lacrimal punctum, Telecanthus, Lower eyelid col...	OMIM:167730
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Hepatome...	OMIM:219800
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Volvulus, Abnormality of the uterus, Failure to thrive...	ORPHA:2970
Congenital Myopathy 9A	Cryptorchidism	OMIM:618822
Developmental And Epileptic Encephalopathy 95	Highly arched eyebrow, Hearing impairment, Cryptorchidism, Elevated circulating alkaline phosphat...	OMIM:618143
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Upslanted palpebral fissure, Hypoplasia of penis, Cryptorchidism, Aplasia/Hypoplasia of the eyebrow	ORPHA:3082
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ...	ORPHA:217563
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Cryptorchidism	OMIM:618504
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Cardiac Valvular Dysplasia, X-Linked	Cutis laxa, Ptosis	OMIM:314400
Toriello-Carey Syndrome	Low-set ears, Short palpebral fissure, Sparse eyebrow, Hearing impairment, Anteriorly placed anus...	ORPHA:3338
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Myoglobinuria, Ptosis, Hypothyroidism,...	OMIM:251900
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer, Recurrent loss of toenails and fingernails, Nail dystrophy	OMIM:245660
Combined Oxidative Phosphorylation Deficiency 40	Hearing impairment, Decreased liver function, Hypertrophic cardiomyopathy, Elevated circulating c...	OMIM:618835
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Failure to thrive, Intrauterine growth retardation, Upslanted palpebral fissure, Epicanthus, Hepa...	ORPHA:50812
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Failure to thrive, Decreased testicular size, Furrowed tongue, Thick eyebrow, Cry...	OMIM:300534
Glucose-Galactose Malabsorption	Vomiting, Diarrhea, Failure to thrive, Dehydration, Malnutrition, Hyperactive bowel sounds, Renal...	ORPHA:35710
Combined Oxidative Phosphorylation Deficiency 42	Hearing impairment, Decreased liver function, Cardiomyopathy, Elevated circulating creatine kinas...	OMIM:618839
Peters-Plus Syndrome	Low-set ears, Hearing impairment, Postnatal growth retardation, Cryptorchidism, Decreased body we...	OMIM:261540
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentration, Elevated urinary 3-h...	OMIM:605911
Acrofacial Dysostosis, Cincinnati Type	Low-set ears, Hearing impairment, Recurrent otitis media, Cryptorchidism, Decreased body weight, ...	OMIM:616462
Parkinson Disease 20, Early-Onset	Involuntary movements, Tremor, Rigidity, Parkinsonism, Bradykinesia, Eyelid apraxia	OMIM:615530
Tetraamelia-Multiple Malformations Syndrome	Cataract, Microcornea, Multicystic kidney dysplasia, Cryptorchidism, Vaginal atresia, Anal atresi...	ORPHA:3301
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Small scrotum, Moderate albuminuria, Elevated circulating hepatic transaminase concentration, Hyp...	OMIM:614231
Intellectual Developmental Disorder, Autosomal Dominant 52	Low-set ears, Bilateral cryptorchidism, Asymmetry of the ears, Astigmatism, Cryptorchidism, Chron...	OMIM:617796
Prader-Willi Syndrome	Small scrotum, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Chronic constipation,...	OMIM:176270
Fibromuscular Dysplasia, Multifocal	Downslanted palpebral fissures, Soft, doughy skin, Striae distensae, Hyperextensible skin, Dermal...	OMIM:619329
Metachromatic Leukodystrophy, Juvenile Form	Bilateral sensorineural hearing impairment, Urinary incontinence, Cholecystitis, Abdominal disten...	ORPHA:309263
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Pancreatitis	ORPHA:70578
Colchicine Poisoning	Hypotension, Diarrhea, Vomiting, Cardiogenic shock, Oliguria, Congestive heart failure, Respirato...	ORPHA:31824
Infantile Myofibromatosis	Abnormal hair morphology, Skin ulcer	ORPHA:2591
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Cataract, Anterior lenticonus, Keratitis, Failure to thrive, Aspiration pneumonia, Tracheobronchi...	ORPHA:1018
Aromatase Deficiency	Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea	OMIM:613546
Cartilage-Hair Hypoplasia	Sparse eyebrow, Failure to thrive, Cardiomyopathy, Macrotia, Low-set, posteriorly rotated ears, M...	ORPHA:175
Cri-Du-Chat Syndrome	Low-set ears, Bifid uvula, Cataract, Gastroesophageal reflux, Growth delay, Hearing impairment, D...	OMIM:123450
Von Hippel-Lindau Syndrome	Retinal capillary hemangioma, Polycythemia, Vertigo, Pancreatic cysts, Pheochromocytoma, Sensorin...	OMIM:193300
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Epicanthus, Upslanted palpebral fissure, Cryptorchidism, Synophrys	OMIM:615824
Ctcf-Related Neurodevelopmental Disorder	Highly arched eyebrow, Gastroesophageal reflux, Cupped ear, Failure to thrive, Low-set, posterior...	ORPHA:363611
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Gastrostomy tube feeding in infancy, Sensorineural hearing impairment, Bro...	ORPHA:457351
Peroxisome Biogenesis Disorder 6B	Decreased liver function, Elevated circulating phytanic acid concentration, Delayed menarche, Sen...	OMIM:614871
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Myoclonus, Rigidity, Parkinsonism, Bradykinesia	OMIM:168601
Osteosarcoma	Abnormal circulating lactate dehydrogenase concentration, Weight loss, Increased circulating lact...	ORPHA:668
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr...	OMIM:615751
Diarrhea 9	Diarrhea, Villous atrophy, Failure to thrive	OMIM:618168
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Growth delay, Ureteral stenosis, Ocular albinism, Ectropion, Cry...	ORPHA:2719
Cranioectodermal Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Low-set ears, Hepatic failure, Chroni...	OMIM:218330
Intellectual Developmental Disorder, Autosomal Recessive 65	Downslanted palpebral fissures, Supernumerary nipple, Cryptorchidism, Ptosis, Hypospadias	OMIM:618109
Rasmussen Subacute Encephalitis	Involuntary movements, Anti-dsDNA antibody positivity, Autoimmunity, Hemiparesis, Antinuclear ant...	ORPHA:1929
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Cupped ear, Anteriorly placed anus, Ocular albinism, Intrauterine growth retardation, Hearing abn...	ORPHA:1352
Loeys-Dietz Syndrome 4	Downslanted palpebral fissures, Striae distensae, Hyperextensible skin, Ptosis, Cutis laxa, Soft ...	OMIM:614816
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cryptorchidism	OMIM:618917
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Bifid uvula, Cryptorchidism, Upslanted palpebral fissure, Protruding ear, Epicanthu...	OMIM:613458
Alpha-N-Acetylgalactosaminidase Deficiency	Recurrent pneumonia, Gastroesophageal reflux, Oligosacchariduria, Hearing impairment, Lymphedema,...	ORPHA:3137
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 33	Nephrotic syndrome, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Olig...	OMIM:617713
X-Linked Acrogigantism	Thickened skin, Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperin...	ORPHA:300373
Progeroid Syndrome, Petty Type	Thick eyebrow, Redundant skin, Long eyelashes in irregular rows, Epicanthus, Cutis laxa	ORPHA:2963
Vitamin D-Dependent Rickets, Type 2A	Elevated circulating parathyroid hormone level, Hearing impairment, Failure to thrive, Elevated c...	OMIM:277440
Familial Tumoral Calcinosis	Erythema, Nephrocalcinosis, Skin rash, Splenomegaly, Hepatomegaly	ORPHA:53715
Combined Oxidative Phosphorylation Deficiency 8	Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Feeding difficulties, Pulmonary hyp...	OMIM:614096
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Hepatic steatos...	OMIM:243910
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for...	OMIM:613217
Ehlers-Danlos Syndrome, Classic-Like, 2	Bilateral ptosis, Thin eyebrow, Redundant skin, Cryptorchidism, Hyperextensible skin, Ptosis	OMIM:618000
Trisomy 13	High, narrow palate, Cataract, Low-set ears, Abnormal helix morphology, Abnormality of the middle...	ORPHA:3378
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Cleft palate, Microtia	OMIM:141400
Anemia, Congenital Dyserythropoietic, Type Iiia	Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Anemia of inadequat...	OMIM:105600
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Hearing impairment, Intestinal obstruction, Tinnitus, Gastrointestin...	ORPHA:97286
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Dysphagia, Progressive sensorineural hearing impairment, Postlingual sensorin...	OMIM:304700
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Tricuspid regurgitation, Respiratory distress, Cardiomegaly, Lethargy	OMIM:620306
Microtia, Hearing Impairment, And Cleft Palate	Stenosis of the external auditory canal, Increased incisura length, Mixed hearing impairment, Ove...	OMIM:612290
Young-Onset Parkinson Disease	Spasticity, Rigidity, Tremor, Bradykinesia	ORPHA:2828
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Short palpebral fissure, Telecanthus, Cryptorchidism, Upslanted palpebral fis...	OMIM:620073
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Posterior polar cataract, Intestinal bleeding, Downslanted palpebral fissures, Duodenal polyposis...	ORPHA:261584
X-Linked Mandibulofacial Dysostosis	Downslanted palpebral fissures, Cryptorchidism, Epicanthus, Ptosis, Aplasia/Hypoplasia of the eye...	ORPHA:1131
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Diarrhea, Depression, Hydroxyprolinuria, Proli...	ORPHA:79101
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Highly arched eyebrow, Aortic regurgitation, Depression, Failure to thrive...	ORPHA:96147
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Erythema, Palmoplantar keratoderma, Failure to thrive, Generalized abnormality o...	ORPHA:79396
Mycetoma	Pelvic mass, Osteomyelitis, Cobblestone-like hyperkeratosis, Abnormality of the lymphatic system,...	ORPHA:2583
Toluene Embryopathy	Epicanthus, Short palpebral fissure, Cryptorchidism	ORPHA:1920
Baller-Gerold Syndrome	Low-set ears, Bifid uvula, Erythema, Anomalous splenoportal venous system, Conductive hearing imp...	OMIM:218600
Seizures-Scoliosis-Macrocephaly Syndrome	Cryptorchidism	ORPHA:466926
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Uterus didelphys, Hamartoma of tongue, Septate vagina, Absent gallbladder, Micropen...	OMIM:617925
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Failure to thrive, Poor suck, Hearing impairment, Upslanted palpebral fissure, Phimosis, Long pal...	OMIM:620455
Hypertelorism, Microtia, Facial Clefting Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Ectopic kidney, Cleft pala...	OMIM:239800
Cutis Laxa, Autosomal Recessive, Type Iiib	Cryptorchidism, Excessive wrinkled skin, Cutis laxa, Narrow palpebral fissure, Dermal translucency	OMIM:614438
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Decreased circulatin...	OMIM:207750
Congenital Disorder Of Deglycosylation 2	Highly arched eyebrow, Hearing impairment, Hamartoma of tongue, Cleft earlobe, Macroglossia, High...	OMIM:619775
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Vomiting, Protein avoidance, Failure to thrive	OMIM:237300
Distal Duplication 18Q	Abnormal female external genitalia morphology, Hypoplasia of penis, Cryptorchidism	ORPHA:1716
Bartsocas-Papas Syndrome	Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Ambiguous genitalia, Aplasia/...	ORPHA:1234
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Cockayne Syndrome A	Dry skin, Cryptorchidism, Sensorineural hearing impairment, Arrhythmia, Micropenis, Hepatomegaly,...	OMIM:216400
Methanol Poisoning	Type I diabetes mellitus, Vomiting, Diarrhea, Permanent atrial fibrillation, Inflammatory arterio...	ORPHA:31825
Autosomal Recessive Faciodigitogenital Syndrome	Telecanthus, Upslanted palpebral fissure, Hyperextensible skin, Long palpebral fissure, Shawl scr...	ORPHA:1974
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Irida Syndrome	Intrahepatic cholestasis, Pallor, Ichthyosis, Decreased circulating copper concentration, Hyperke...	ORPHA:209981
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a...	OMIM:106300
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Peripheral edema, Pleural effusion, Cardiomegaly, Hepatom...	ORPHA:1677
Ectopia Lentis 1, Isolated, Autosomal Dominant	Striae distensae	OMIM:129600
Chromosome 10Q26 Deletion Syndrome	Low-set ears, Small scrotum, Downslanted palpebral fissures, Postnatal growth retardation, Vesico...	OMIM:609625
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Epicanthus, Cryptorchidism	ORPHA:88639
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo...	OMIM:614842
Lacrimoauriculodentodigital Syndrome 1	Xerostomia, Hearing impairment, Lacrimal gland hypoplasia, Absence of Stensen duct, Dacryocystiti...	OMIM:149730
Intellectual Developmental Disorder, Autosomal Dominant 57	Diarrhea, Failure to thrive, Telecanthus, Otitis media, Upslanted palpebral fissure, Epicanthus, ...	OMIM:618050
Waardenburg Syndrome, Type 4C	Lacrimal gland hypoplasia, Hypogonadism, Cryptorchidism, White eyebrow, White eyelashes	OMIM:613266
Myhre Syndrome	Aortic valve stenosis, Cataract, Low-set ears, Hearing impairment, Obesity, Thick eyebrow, Intrau...	OMIM:139210
Bohring-Opitz Syndrome	Low-set ears, Gastroesophageal reflux, Failure to thrive, Supernumerary nipple, Intestinal malrot...	OMIM:605039
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothyroidism, Cryptorchidism	OMIM:619908
Congenital Short Bowel Syndrome	Decreased intestinal transit time, Vomiting, Failure to thrive, Dehydration, Abnormal peristalsis...	OMIM:615237
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Renal insufficiency, Sensorineural hearing impairment, Proteinuria, Anemia	ORPHA:2668
2P15P16.1 Microdeletion Syndrome	Low-set ears, Multicystic kidney dysplasia, Hearing impairment, Supernumerary nipple, Mitral regu...	ORPHA:261349
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Decreased fertility, Sparse eyelashes, Epicanthus, Keratoconjunctivitis sicca, Growt...	OMIM:234050
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Elevated circulating creatine kinase concentration, Follicular hyperkeratosis, Bruising susceptib...	ORPHA:300179
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Spondylocostal Dysostosis 1, Autosomal Recessive	Recurrent respiratory infections, Protuberant abdomen, Abdominal distention	OMIM:277300
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism	ORPHA:404451
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Micropenis, Hypospadias, Cryptorchidism, Shawl scrotum	OMIM:600460
Den Hoed-De Boer-Voisin Syndrome	Dry skin, Thick eyebrow, Widow's peak	OMIM:619229
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, Failure to thrive, 3-Methylglutaconic aciduria, Sensorineural hearing ...	OMIM:617248
Boomerang Dysplasia	Decreased response to growth hormone stimulation test, Cryptorchidism	ORPHA:1263
Cockayne Syndrome B	Dry skin, Postnatal growth retardation, Cryptorchidism, Sensorineural hearing impairment, Severe ...	OMIM:133540
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Trichiasis, Renal hypoplasia, Failure to thrive, Tricuspid regurgitation, ...	OMIM:618460
Congenital-Onset Steinert Myotonic Dystrophy	Cataract, Diarrhea, Gastroesophageal reflux, Enuresis, Bundle branch block, Obesity, Encopresis, ...	ORPHA:589821
Congenitally Uncorrected Transposition Of The Great Arteries	Small for gestational age, Failure to thrive, Biventricular hypertrophy, Dextrotransposition of t...	ORPHA:860
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Cryptorchidism	ORPHA:1338
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism	ORPHA:452
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Disproportionate short-limb short stature, Postnatal growth retardation, Rhizo-meso-acromelic lim...	OMIM:611717
Fraser Syndrome	Small scrotum, Abnormality of the outer ear, Abnormal vagina morphology, Atresia of the external ...	ORPHA:2052
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia	OMIM:215100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Low-set ears, Cataract, Atresia of the external auditory canal, Megalocornea, Cryptorchidism, Fee...	OMIM:236670
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Alg9-Cdg	Low-set ears, Diarrhea, Large fleshy ears, Hepatomegaly, Gastroesophageal reflux, Tricuspid regur...	ORPHA:79328
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decreased hemoglobin conce...	ORPHA:713
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Atresia of the external auditory canal, Hearing impairment, Cryptorchidism...	OMIM:601808
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Renal hypoplasia, Eczematoid dermatitis, Obesity, Vesicoureteral reflux, Cryptorchidism, Pseudohy...	ORPHA:464288
Chikungunya	Facial edema, Erythema, Diarrhea, Vomiting, Cervical lymphadenopathy, Skin rash, Joint swelling, ...	ORPHA:324625
Timothy Syndrome	Pneumonia, Hypothyroidism, Cardiomegaly, Bronchitis	OMIM:601005
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pulmonary cyst, Large for gestational age, Enlarged kidney, Protuberant abdomen	OMIM:618272
Combined Oxidative Phosphorylation Deficiency 19	Gastroesophageal reflux, Failure to thrive, Respiratory distress, Elevated circulating aspartate ...	OMIM:615595
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi...	OMIM:602588
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism, Macrotia	OMIM:300886
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Micropenis, Cryptorchidism	OMIM:612447
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Hypertrophic cardiomyopathy, Hepatomegaly, Feeding difficulties in infancy, Devel...	OMIM:618810
Ethylmalonic Encephalopathy	Diarrhea, Retinal vascular tortuosity, Failure to thrive, Petechiae, Ethylmalonic aciduria	ORPHA:51188
Proprotein Convertase 1/3 Deficiency	Diarrhea, Elevated circulating proinsulin concentration, Obesity, Villous atrophy, Malabsorption,...	OMIM:600955
9Q21.13 Microdeletion Syndrome	Long palpebral fissure, Ptosis, Cryptorchidism	ORPHA:531151
Fragile X-Associated Tremor/Ataxia Syndrome	Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Ataxia, Bradykinesia, Intention tremor	ORPHA:93256
Johanson-Blizzard Syndrome	Elevated gamma-glutamyltransferase level, Clitoral hypertrophy, Cryptorchidism, Sensorineural hea...	OMIM:243800
Lipoid Proteinosis	Pustule, Recurrent respiratory infections, Acne, Dysphagia	ORPHA:530
Omodysplasia 2	Uterus didelphys, Cryptorchidism, Dyspareunia, Labial hypoplasia, Micropenis, Hypospadias, Clitor...	OMIM:164745
Fumarase Deficiency	Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Conjunctival icterus, Elevated urine fu...	OMIM:606812
Solitary Fibrous Tumor	Uterine neoplasm, Urinary retention, Pelvic mass, Vaginal neoplasm, Hypophosphatemic rickets, Pro...	ORPHA:2126
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Low-set ears, Bifid uvula, Highly arched eyebrow, Downslanted palpebral fissures, Intestinal malr...	ORPHA:404440
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Acrodysostosis 2 With Or Without Hormone Resistance	Congenital hypothyroidism, Hypospadias, Cryptorchidism, Diabetes mellitus	OMIM:614613
Hand-Foot-Genital Syndrome	Abnormality of the urethra, Abnormality of the uterus, Ureteropelvic junction obstruction, Vesico...	ORPHA:2438
Bresek Syndrome	Decreased testicular size, Alopecia, Cryptorchidism	ORPHA:85284
Uremic Pruritus	Inflammatory abnormality of the skin, Elevated total serum tryptase, Dry skin, Recurrent skin inf...	ORPHA:94059
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy	ORPHA:2483
Alport Syndrome 1, X-Linked	Nephritis, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, Sensorineura...	OMIM:301050
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short palpebral fissure, Telecanthus, Cryptorchidism, Redundant neck skin, Ptosis, Blepharophimos...	OMIM:217980
Superficial Epidermolytic Ichthyosis	Erythema, Acantholysis	ORPHA:455
Man1B1-Cdg	Sparse eyebrow, Downslanted palpebral fissures, Long eyelashes, Epicanthus, Cutis laxa, Long eyeb...	ORPHA:397941
Urofacial Syndrome 1	Cryptorchidism	OMIM:236730
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Gastroesophageal reflux, Failure to thrive, Hearing impairment, Hypogonadism, Cryptorchidism, Chr...	ORPHA:500055
Marden-Walker Syndrome	High, narrow palate, Low-set ears, Renal hypoplasia, Postnatal growth retardation, Intrauterine g...	OMIM:248700
Thrombocytopenia-Absent Radius Syndrome	Horseshoe kidney, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Aplasia of...	ORPHA:3320
Kufor-Rakeb Syndrome	Blepharospasm, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Letharg...	ORPHA:306674
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cataract, Decreased response to growth hormone stimulation test, Thick eyebrow, Central adrenal i...	OMIM:616007
Kleefstra Syndrome	Hearing impairment, Supernumerary nipple, Cryptorchidism, Arrhythmia, Hypospadias, Chronic otitis...	ORPHA:261494
Platyspondylic Dysplasia, Torrance Type	Low-set ears, Abdominal distention, Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia	ORPHA:85166
Lesch-Nyhan Syndrome	Nephrocalcinosis, Vomiting, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Megaloblast...	OMIM:300322
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Fg Syndrome 3	Cryptorchidism	OMIM:300406
Cutaneous Neuroendocrine Carcinoma	Neoplasm of the outer ear, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer, Carcin...	ORPHA:79140
C Syndrome	Multicystic kidney dysplasia, Hypoplasia of the ear cartilage, Failure to thrive in infancy, Hors...	ORPHA:1308
Senior-Loken Syndrome 9	Hepatic fibrosis, Nephronophthisis, Hypogonadism, Cholestasis, Obesity, Stage 5 chronic kidney di...	OMIM:616629
Non-Functioning Paraganglioma	Hypertensive retinopathy, Weight loss, Vocal cord paralysis, Tremor	ORPHA:94080
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
Ramon Syndrome	Conductive hearing impairment, Failure to thrive, Sensorineural hearing impairment, Telangiectasi...	ORPHA:3019
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Increased circulating lactate dehydrogenase concentration, Intraalveolar ph...	ORPHA:747
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Right ventricular hypertrophy	OMIM:253700
Familial Keratoacanthoma	Skin ulcer	ORPHA:493
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Feeding difficulties, Hepatic steatosis, Myoglobinuria, Reduced tissue car...	ORPHA:228308
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Cryptorchidism, Sensorineural hearing impairment, Rectoperineal fis...	OMIM:107480
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Low-set ears, Downslanted palpebral fissures, Horseshoe kidney, Macrotia, Intrauterine growth ret...	ORPHA:166035
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Postnatal growth retardation, Thick eyebrow, Epicanthus, Cutis laxa, Hyposegmentation of neutroph...	OMIM:614800
Pallister-Hall Syndrome	Small scrotum, Auricular tag, Atresia of the external auditory canal, Hydrometrocolpos, Hypopitui...	ORPHA:672
Thyroid Lymphoma	Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Lymphadenopathy, Dysphagia	ORPHA:97285
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Vomiting, Malnutrition, Pancreatic adenocarcino...	ORPHA:103918
Chylomicron Retention Disease	Vomiting, Diarrhea, Failure to thrive, Malnutrition, Accumulation of lipid droplets in small-bowe...	OMIM:246700
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Upslanted palpebral fissure, Delayed puberty, Cryptorchidism	ORPHA:496790
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Failure to thrive, Hypertrophic cardiomyopathy, Elevate...	OMIM:614582
Huriez Syndrome	Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Prolonged neonatal jaundice, Urinary incontinence, Dysphagia, Bowel incontinence	OMIM:618868
Opsismodysplasia	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:2746
Sunct Syndrome	Vomiting, Conjunctival hyperemia, Nausea, Ear pain, Ptosis, Facial erythema, Palpebral edema	ORPHA:57145
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Low-set ears, Secretory diarrhea, Cutis laxa, Abdominal distention, Polyhydramnios, Ureteral dupl...	OMIM:270420
Meckel Syndrome, Type 1	Low-set ears, Abnormality of the ureter, Cryptorchidism, Polycystic kidney dysplasia, Bile duct p...	OMIM:249000
Bainbridge-Ropers Syndrome	Low-set ears, Supernumerary nipple, Cryptorchidism, Epicanthus, Tube feeding, High palate, Precoc...	OMIM:615485
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Hyp...	OMIM:264700
Warburg Micro Syndrome 3	Small scrotum, Decreased testicular size, Blepharophimosis, Micropenis, Hypoplastic labia minora	OMIM:614222
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal h...	OMIM:177850
Pancreatic And Cerebellar Agenesis	Low-set ears, Pancreatic hypoplasia, Failure to thrive, Apnea, Severe intrauterine growth retarda...	OMIM:609069
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Nail dystrophy, Brittle hair	ORPHA:75389
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Small scrotum, Hydroureter, Failure to thrive, Ureteral stenosis, Postnatal growth ...	OMIM:269150
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr...	OMIM:618223
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Alopecia, Hypergonadotropic hypogonadism	OMIM:620651
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Malnutrition, Protracted diarrhea, Villous atrophy, Abnormal intestine morphology, Growth delay	OMIM:251850
Gracile Syndrome	Hearing impairment, Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis,...	ORPHA:53693
Scalp-Ear-Nipple Syndrome	Cataract, Type I diabetes mellitus, Duplication of renal pelvis, Breast aplasia, Underdeveloped t...	ORPHA:2036
Trichothiodystrophy 5, Nonphotosensitive	Sparse eyebrow, Decreased testicular size, Panhypopituitarism, Intrauterine growth retardation, M...	OMIM:300953
Congenital Multicore Myopathy With External Ophthalmoplegia	Micropenis, Small scrotum, Ptosis, Cryptorchidism	ORPHA:98905
Roberts Syndrome	Cataract, Clitoral hypertrophy, Long penis, Postnatal growth retardation, Cryptorchidism, Thrombo...	ORPHA:3103
Adult Intestinal Botulism	Diarrhea, Ptosis	ORPHA:178487
Methionine Malabsorption Syndrome	Aminoaciduria, Tachypnea, Diarrhea, Blue irides	OMIM:250900
Turnpenny-Fry Syndrome	Aortic regurgitation, Low-set ears, Gastroesophageal reflux, Conductive hearing impairment, Failu...	OMIM:618371
Gapo Syndrome	Alopecia, Sparse eyebrow, Hypogonadism, Dysmenorrhea, Sparse eyelashes, Amenorrhea, Oligozoosperm...	ORPHA:2067
Mucopolysaccharidosis Type 6	Recurrent upper respiratory tract infections, Failure to thrive, Splenomegaly, Sinusitis, Opacifi...	ORPHA:583
Alternating Hemiplegia Of Childhood	Diarrhea, Abdominal distention, Vomiting, Cardiomyopathy, Dehydration, Oral-pharyngeal dysphagia,...	ORPHA:2131
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Gastroesophageal reflux, Intestinal malrotation, Low-set, posteriorly rotated ears, Feeding diffi...	ORPHA:457193
Exstrophy-Epispadias Complex	Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys...	ORPHA:322
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Lymphopenia, Absent uvula, Intestinal atresia, Rectovaginal ...	OMIM:619708
Scleromyxedema	Gastroesophageal reflux, Paraproteinemia, Elevated circulating creatine kinase concentration, Abn...	ORPHA:167635
Calciphylaxis	Skin ulcer	ORPHA:280062
Basal Ganglia Disease, Biotin-Thiamine Responsive	Lethargy, Vomiting, Ptosis, Dysphagia	OMIM:607483
Warburg-Cinotti Syndrome	Low-set ears, Symblepharon, Hypoplasia of the ear cartilage, Erythema, Conductive hearing impairm...	OMIM:618175
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Gastroesophageal reflux, Enuresis, Volvulus, Cupped ear, Horseshoe kidney, Pye...	OMIM:301111
Mednik Syndrome	Intrahepatic cholestasis, Ichthyosis, Decreased circulating ceruloplasmin concentration, Decrease...	ORPHA:171851
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Central retinal vessel vascular tortuosity, Myocardial infarction, Centra...	OMIM:208060
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Cataract, Hearing impairment, Intrauterine growth retardation, Developmental catar...	OMIM:610756
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De...	OMIM:614839
Koolen-De Vries Syndrome Due To A Point Mutation	Hearing impairment, Recurrent otitis media, Slender build, Feeding difficulties, Cryptorchidism, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hearing impairment, Recurrent otitis media, Slender build, Feeding difficulties, Cryptorchidism, ...	ORPHA:363958
Lymphatic Malformation 12	Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Polyhydramnios, Pleural thickening, Hydroce...	OMIM:620014
Zimmermann-Laband Syndrome 1	Low-set ears, Cataract, Highly arched eyebrow, Long penis, Gastroesophageal reflux, Hearing impai...	OMIM:135500
Thyroid Ectopia	Elevated circulating thyroid-stimulating hormone concentration, Dry skin, Abnormality of the thyr...	ORPHA:95712
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Low-set ears, Feeding difficulties, Cryptorchidism, Mitral regurgitation, Chronic constipation, E...	OMIM:617506
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Upslanted palpebral fissure, Cryptorchidism	OMIM:616789
Intellectual Developmental Disorder, Autosomal Dominant 54	Dry skin, Sparse hair, Thin nail	OMIM:617799
Corticosteroid-Binding Globulin Deficiency	Anemia, Reduced circulating cortisol-binding globulin concentration, Hypokalemia	OMIM:611489
Orthostatic Hypotension 2	Anemia	OMIM:618182
Ring Chromosome 13 Syndrome	Growth delay, Bifid scrotum, Primary hypothyroidism, Epicanthus, Posteriorly rotated ears, Anal a...	ORPHA:96176
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Downslanted palpebral fissures, Supernumerary nipple, Telecanthus, Cryptorchidism, Micropenis, Sy...	OMIM:618929
Immunodeficiency 27B	Osteomyelitis, Generalized lymphadenopathy, Salmonella osteomyelitis	OMIM:615978
Kleefstra Syndrome 1	Gastroesophageal reflux, Hearing impairment, Obesity, Protruding tongue, Cryptorchidism, Upslante...	OMIM:610253
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Micropenis, Small scrotum, Cryptorchidism, Microphallus	OMIM:300486
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Cataract, Sparse eyebrow, Hamartoma of the orbital region, Cupped ear, Lacrimal pun...	ORPHA:2399
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Low-set ears, Epicanthus, Ptosis, Short stature, Microtia	OMIM:616723
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility...	ORPHA:91347
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Hypospadias, Supernumerary nipple	ORPHA:3224
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis, Decreased retinol-binding protein level	OMIM:615147
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Hypogonadism, Delayed menarche, Oligomenorrhea, Infertility	ORPHA:412057
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Hypothyroidism, Congenital, Nongoitrous, 2	Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Goiter, Dry skin, D...	OMIM:218700
Short Syndrome	Alopecia, Sparse hair, Excessive wrinkled skin	ORPHA:3163
Meckel Syndrome	Accessory spleen, Multicystic kidney dysplasia, Low-set, posteriorly rotated ears, Oligohydramnio...	ORPHA:564
Werner Syndrome	Cataract, Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Elevated c...	OMIM:277700
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Carpenter Syndrome 2	Low-set ears, Supernumerary nipple, Cryptorchidism, Sensorineural hearing impairment, Epicanthus,...	OMIM:614976
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Bardet-Biedl Syndrome	Chronic kidney disease, Inflammation of the large intestine, Hearing impairment, Hydrometrocolpos...	ORPHA:110
Marfanoid-Progeroid-Lipodystrophy Syndrome	High, narrow palate, Ectopia lentis, Bruising susceptibility, Downslanted palpebral fissures, Int...	OMIM:616914
Mowat-Wilson Syndrome	Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Cryptorchidism, Decr...	ORPHA:2152
Wars2-Related Combined Oxidative Phosphorylation Defect	Low-set ears, Cardiomyopathy, Intrauterine growth retardation, Thrombocytopenia, High palate, Dys...	ORPHA:572798
Ivic Syndrome	Hearing impairment, Intestinal malrotation, Leukocytosis, Thrombocytopenia, Anal atresia, Rectova...	OMIM:147750
Amyloidosis, Hereditary Systemic 1	Diarrhea, Hearing impairment, Cardiomyopathy, Sensorineural hearing impairment, Orthostatic hypot...	OMIM:105210
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Digital ulcer, Telangiectasia, Glomerulonephritis, A...	ORPHA:90291
Congenital Myopathy 8	Cardiomegaly, Feeding difficulties in infancy	OMIM:618654
Behcet Syndrome	Erythema, Patchy alopecia, Genital ulcers, Epididymitis	OMIM:109650
Joubert Syndrome 8	Prolonged neonatal jaundice, Hepatomegaly, Obesity, Ptosis	OMIM:612291
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Hypospadias, Cryptorchidism, Synophrys	OMIM:300004
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Hepatic hemangi...	ORPHA:73230
Ohdo Syndrome, Sbbys Variant	Cryptorchidism, Hypothyroidism, Blepharophimosis, Epicanthus inversus, Hypospadias	OMIM:603736
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Hypospadias	OMIM:619718
Woolly Hair-Skin Fragility Syndrome	Acantholysis, Woolly hair	OMIM:620415
Adrenoleukodystrophy	Hypogonadism, Alopecia, Impotence	OMIM:300100
Ruvalcaba Syndrome	Ptosis, Delayed puberty, Cryptorchidism, Downslanted palpebral fissures	ORPHA:3121
Myasthenia, Limb-Girdle, Autoimmune	Hashimoto thyroiditis, Thymoma, Systemic lupus erythematosus	OMIM:159400
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Pseudoaminopterin Syndrome	Highly arched eyebrow, Hypoplasia of the antihelix, Absent earlobe, Low-set, posteriorly rotated ...	ORPHA:221120
Martsolf Syndrome 1	Low-set ears, Cataract, Cardiomyopathy, Downslanted palpebral fissures, Congestive heart failure,...	OMIM:212720
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Dysuria, Postnatal growth retardati...	ORPHA:93110
19P13.13 Microdeletion Syndrome	Low-set ears, Diarrhea, Vomiting, Downslanted palpebral fissures, Macrotia, Functional abnormalit...	ORPHA:357001
Mucopolysaccharidosis, Type Vi	Pneumonia, Thickened skin, Recurrent upper respiratory tract infections, Reduced leukocyte arylsu...	OMIM:253200
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hearing impairment, Short-segment aganglionic megacolon, Hepatosplenomegaly, Ileus, Portal hypert...	OMIM:609136
X-Linked Intellectual Disability Due To Gria3 Mutations	Eversion of lateral third of lower eyelids, Slender build, Cryptorchidism, Hydronephrosis, Ptosis...	ORPHA:364028
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Low-set ears, Telecanthus, Protuberant abdomen	OMIM:617102
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low-set ears, Restrictive cardiomyopathy, Hearing impairment, Low alkaline phosphatase, Atrial se...	ORPHA:369837
Ciliary Dyskinesia, Primary, 18	Recurrent otitis media, Abdominal situs ambiguus, Recurrent sinusitis, Immotile sperm, Rhinitis, ...	OMIM:614874
Visceral Myopathy 1	Vomiting, Diarrhea, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Malnutrition, G...	OMIM:155310
Lymphatic Malformation 4	Lymphedema, Prominent superficial veins, Hydrocele testis, Hyperkeratosis, Pedal edema	OMIM:615907
Treacher Collins Syndrome 1	Conductive hearing impairment, Atresia of the external auditory canal, Downslanted palpebral fiss...	OMIM:154500
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Sparse lateral eyebrow, Downslanted palpebral fissures, Aspiration pneumonia...	ORPHA:314655
Nephronophthisis 11	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts,...	OMIM:613550
Specc1L-Related Hypertelorism Syndrome	Highly arched eyebrow, Downslanted palpebral fissures, Thick eyebrow, Female pseudohermaphroditis...	ORPHA:1519
Classical Ehlers-Danlos Syndrome	Mitral regurgitation, Chronic constipation, Epicanthus, Cervical insufficiency, Rectal prolapse, ...	ORPHA:287
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea	OMIM:614102
Pde4D Haploinsufficiency Syndrome	Hypotension, Elevated circulating parathyroid hormone level, Hearing impairment, Postnatal growth...	ORPHA:439822
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Failure to thrive, Oroticaciduria, Anemia, Chronic diarrhea, Dysphagia, Feeding difficulties	OMIM:620358
Herpes Simplex Virus Stromal Keratitis	Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea...	ORPHA:137599
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h...	ORPHA:91354
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Generalized aminoaciduria, Elevated circulating hepati...	ORPHA:404454
Sotos Syndrome	Small cell lung carcinoma, Hearing impairment, Decreased fertility, Cryptorchidism, Ventricular s...	ORPHA:821
Pontocerebellar Hypoplasia, Type 7	Low-set ears, Macrotia, Apnea, Cryptorchidism, Epicanthus, Ambiguous genitalia, Micropenis, High ...	OMIM:614969
Adams-Oliver Syndrome 2	Alopecia, Small nail, Low anterior hairline	OMIM:614219
9Q33.3Q34.11 Microdeletion Syndrome	Low-set ears, Small scrotum, Highly arched eyebrow, Epistaxis, Telecanthus, Esophagitis, Cryptorc...	ORPHA:495818
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Cryptorchidism, Sens...	ORPHA:261537
Helsmoortel-Van Der Aa Syndrome	Low-set ears, Ankyloglossia, Cryptorchidism, Mitral regurgitation, Epicanthus, Narrow palpebral f...	OMIM:615873
Myhre Syndrome	Abnormal penis morphology, Precocious puberty, Short palpebral fissure, Hypogonadism, External ge...	ORPHA:2588
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Periodic paralysis, Tremor	OMIM:613239
Blue Diaper Syndrome	Nephrocalcinosis, Diarrhea, Elevated circulating hepatic transaminase concentration, Elevated cir...	ORPHA:94086
Helix Syndrome	Dry skin	OMIM:617671
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Precocious puberty, High, narrow palate, Abnormality of the outer ear, Gastroesophageal reflux, V...	ORPHA:96182
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Sparse lateral eyebrow, Downslanted palpebral fissures, Cryptorchidism, Almond-shaped palpebral f...	OMIM:619103
Vacterl With Hydrocephalus	Abnormality of the outer ear, Microcornea, Microtia, third degree, Anotia, Intrauterine growth re...	ORPHA:3412
Alkaptonuria	Aortic valve stenosis, Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Black pigme...	ORPHA:56
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Dry skin, Prominent scalp veins, Cryptorchidism, Reduced subcutaneous adipose tissu...	OMIM:264090
Distal Duplication 5Q	Low-set ears, Eczematoid dermatitis, Downslanted palpebral fissures, Cryptorchidism, Ventricular ...	ORPHA:96097
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Cardiomegaly, Mucosal telangiectasiae, Abnormal thymus morphology, Abnormality...	ORPHA:2463
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Low-set ears, Failure to thrive, Downslanted palpebral fissures, Subretinal pigment epithelium he...	ORPHA:357074
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Increased circulating lactate dehydrogenase concentration, Hearing impairment, Oligosacchariduria...	ORPHA:308552
Acrofacial Dysostosis, Rodríguez Type	Intrauterine growth retardation, Abnormality of the uterus, Microtia	ORPHA:1788
Rothmund-Thomson Syndrome, Type 2	Cataract, Microcornea, Sparse eyebrow, Annular pancreas, Prominent antihelix, Anteriorly placed a...	OMIM:268400
Peters Plus Syndrome	Multicystic kidney dysplasia, Postnatal growth retardation, Cryptorchidism, Feeding difficulties ...	ORPHA:709
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Multicystic kidney dysplasia, Hyphema, Ectopia pupillae, Recurrent otitis ...	ORPHA:261552
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Cutis laxa	OMIM:619691
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Vomiting, Failure to thrive, Oroticaciduria, Elevated circulating aspartate aminotransferase conc...	OMIM:311250
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Cryptorchidism	OMIM:218350
Trisomy 1Q	Small scrotum, Ambiguous genitalia, Cryptorchidism, Downslanted palpebral fissures	ORPHA:261344
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Intestinal malrotation, Decreased testicular size, Hypoplasia of eyelid, Cleft ...	OMIM:619321
Variegate Porphyria, Childhood-Onset	Atopic dermatitis, Epidermal hyperkeratosis, Fragile skin, Cutaneous photosensitivity, Increased ...	OMIM:620483
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Cryptorchidism, Neonatal death	OMIM:224410
8P23.1 Microdeletion Syndrome	Low-set ears, Growth delay, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Obesity,...	ORPHA:251071
Microcephalic Primordial Dwarfism, Dauber Type	Obesity, Severe postnatal growth retardation, Bilateral breast hypoplasia, Severe intrauterine gr...	ORPHA:319675
Proteus-Like Syndrome	Bronchogenic cyst, Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycy...	ORPHA:2969
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Cataract, Conductive hearing impairment, Downslanted palpebral fissures, Hypogonadism, Bilateral ...	ORPHA:3042
Wolf-Hirschhorn Syndrome	Ectopia pupillae, Cryptorchidism, Sensorineural hearing impairment, Epicanthus, Iris coloboma, Ab...	OMIM:194190
Stickler Syndrome	Cataract, Ectopia lentis, Slender build, Telecanthus, Astigmatism, Hemiplegia/hemiparesis, Epican...	ORPHA:828
Townes-Brocks Syndrome 2	Cupped ear, Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Overfolded helix, A...	OMIM:617466
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Dysmetria, Conjunctival hyperemia, Babinski sign, Scissor gait, Spastic ga...	OMIM:619121
Stiff-Person Syndrome	Autoimmunity, Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Anemia, Fre...	OMIM:184850
Bazex-Dupré-Christol Syndrome	Hypoplasia of the ear cartilage, Sparse eyebrow, Sparse or absent eyelashes, Macrotia	ORPHA:113
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Increased circulating prolactin concentration, Aspiration pneumonia, Feeding difficulties, Crypto...	ORPHA:438213
Congenital Heart Defects And Skeletal Malformations Syndrome	Failure to thrive, Intestinal malrotation, Intrauterine growth retardation, Cryptorchidism, Upsla...	OMIM:617602
Encephalopathy, Ethylmalonic	Ethylmalonic aciduria, Failure to thrive, Petechiae, Abnormal retinal vascular morphology, Chroni...	OMIM:602473
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Diarrhea, Vomiting, Failure to thrive, Hyperaldosteronism, Feeding difficulties in i...	OMIM:264350
Roifman-Chitayat Syndrome	Pneumonia, Lacrimal duct stenosis, Arthritis	OMIM:613328
Oromandibular Dystonia	Blepharospasm, Weight loss, Torticollis, Hyperkinetic movements	ORPHA:93958
Yunis-Varon Syndrome	Low-set ears, Aspiration pneumonia, Cryptorchidism, Sparse eyelashes, Sensorineural hearing impai...	OMIM:216340
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Seckel Syndrome	Cachexia, Downslanted palpebral fissures	ORPHA:808
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Acquired Generalized Lipodystrophy	Abnormality of complement system, Progeroid facial appearance, Abnormal circulating lipid concent...	ORPHA:79086
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Tay-Sachs Disease	Aspiration pneumonia, Incoordination, Fasciculations, Cherry red spot of the macula, Abnormal cir...	ORPHA:845
Congenital Myopathy 20	Epicanthus, High palate, Chronic diarrhea, Failure to thrive	OMIM:620310
Steinert Myotonic Dystrophy	Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased f...	ORPHA:273
Noonan Syndrome 3	Low-set ears, Juvenile myelomonocytic leukemia, Bruising susceptibility, Downslanted palpebral fi...	OMIM:609942
Orofaciodigital Syndrome Type 1	Alopecia, Coarse hair, Dry skin, Brittle hair, Sparse hair	ORPHA:2750
Xq12-Q13.3 Duplication Syndrome	Epicanthus, Decreased serum insulin-like growth factor 1, Cryptorchidism	ORPHA:314389
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Alopecia, Sparse eyebrow, Small nail, Bilateral cryptorchidism, Hypoplastic toenails, Sparse eyel...	ORPHA:544488
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism	ORPHA:453533
Immune-Mediated Necrotizing Myopathy	Skin rash, Myositis, Myocarditis, Abnormal pulmonary interstitial morphology, Dysphagia	ORPHA:206569
Glutaric Acidemia Type 3	Glutaric aciduria, Lethargy, Ketonuria, Failure to thrive	ORPHA:35706
Bardet-Biedl Syndrome 1	Hearing impairment, High palate, High, narrow palate, Cataract, Decreased testicular size, Obesit...	OMIM:209900
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Clitoral hypertrophy, Small nail, Decreased testicular size, External genital hypoplasia, Nail dy...	OMIM:610644
Alg1-Cdg	Protein-losing enteropathy, Decreased liver function, Cardiomyopathy, Renal insufficiency, Abnorm...	ORPHA:79327
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure, Myeloid leukemia	ORPHA:331
Filippi Syndrome	Downslanted palpebral fissures, Cryptorchidism, Supernumerary nipple	ORPHA:3255
Cranioectodermal Dysplasia 4	Bone marrow hypocellularity, Recurrent pneumonia, Stage 5 chronic kidney disease, Protruding ear,...	OMIM:614378
Diarrhea 6	Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease	OMIM:614616
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Downslanted palpebral fissures, Recurrent otitis media, Tetralogy of Fallot, Cryptorchidism, Cyan...	ORPHA:3304
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia, Small for gestational age, Ataxia	ORPHA:79243
Acrodysostosis	Irregular menstruation, Abnormal female external genitalia morphology, Hypogonadism, Telecanthus,...	ORPHA:950
Autosomal Recessive Omodysplasia	Pterygium, Cryptorchidism	ORPHA:93329
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Unilateral renal agenesis, Low-set ears, Premature skin wrinkling, Postnata...	OMIM:616603
Genitopatellar Syndrome	Low-set ears, Small scrotum, Clitoral hypertrophy, Gastroesophageal reflux, Multicystic kidney dy...	ORPHA:85201
Hsd10 Disease, Infantile Type	Hearing impairment, Hypertrophic cardiomyopathy, Abnormal circulating enzyme concentration or act...	ORPHA:391428
Milroy Disease	Predominantly lower limb lymphedema, Erysipelas, Lymphedema, Epicanthus, Hydrocele testis, Hyperk...	ORPHA:79452
X-Linked Immunoneurologic Disorder	Abnormal pleura morphology, Functional abnormality of the bladder, Decreased circulating IgG2 lev...	ORPHA:2571
Isotretinoin Syndrome	Abnormality of the outer ear, Cleft palate, Microtia	ORPHA:2305
Medulloblastoma	Elevated circulating hepatic transaminase concentration, Vertigo, Nausea and vomiting, Lethargy, ...	ORPHA:616
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy, Feeding difficulties	OMIM:618232
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism	OMIM:618060
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Annular pancreas, Eczematoid dermatitis, Bruising susceptibility, Elevated cir...	OMIM:618162
Axenfeld-Rieger Syndrome, Type 2	Telecanthus, Hypospadias, Cryptorchidism	OMIM:601499
Refsum Disease, Classic	Cardiomyopathy, Elevated circulating phytanic acid concentration, Ichthyosis, Sensorineural heari...	OMIM:266500
Foodborne Botulism	Mydriasis, Diarrhea, Xerostomia, Urinary retention, Nausea and vomiting, Arrhythmia, Ptosis, Cons...	ORPHA:228371
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Gastroesophageal reflux, Central hypothyroidism, Hearing impairment, Growth delay, Bilateral cryp...	OMIM:300998
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss	OMIM:605543
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Spider hemangioma, Cycli...	OMIM:232240
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Pili torti, Fragile nails	OMIM:261990
Infantile Neuroaxonal Dystrophy	Spasticity, Increased circulating lactate dehydrogenase concentration, Aspiration pneumonia, Abno...	ORPHA:35069
Marfan Syndrome	Spontaneous pneumothorax, Pulmonary artery dilatation, Ectopia lentis, Downslanted palpebral fiss...	ORPHA:558
Cutis Laxa, Autosomal Recessive, Type Iia	Low-set ears, Failure to thrive, Downslanted palpebral fissures, Intrauterine growth retardation,...	OMIM:219200
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dry skin	OMIM:619306
Truncus Arteriosus	Pulmonary artery hypoplasia, Abnormal lung lobation, Anomalous origin of one pulmonary artery fro...	ORPHA:3384
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Bifid scrotum, Cryptorchidism, Antecubital pterygium, Epicanthus, Ptosis, Bl...	OMIM:609945
Aspartylglucosaminuria	Macroglossia, Cataract, Diarrhea, Aspartylglucosaminuria, Mitral regurgitation, Short stature, Ne...	OMIM:208400
Cardiofaciocutaneous Syndrome 3	Webbed neck, Failure to thrive, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial se...	OMIM:615279
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Stenosis of the external audit...	ORPHA:2878
Mullegama-Klein-Martinez Syndrome	Low-set ears, Bifid uvula, Submucous cleft of soft and hard palate, Failure to thrive, Atresia of...	OMIM:301022
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Sparse hair, Nail dystrophy	OMIM:616353
Occipital Horn Syndrome	Gastroesophageal reflux, Hepatitis, Bruising susceptibility, Downslanted palpebral fissures, Chol...	ORPHA:198
Warburg Micro Syndrome 2	Micropenis, Small scrotum, Hypoplastic labia majora, Cryptorchidism	OMIM:614225
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Anonychia, Nail dystrophy	OMIM:616029
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
De Barsy Syndrome	Low-set ears, Cataract, Failure to thrive, Downslanted palpebral fissures, Large earlobe, Postnat...	ORPHA:2962
Graves Disease	Weight loss, Abnormal abdomen morphology	OMIM:275000
Hidrotic Ectodermal Dysplasia, Halal Type	Irregular menstruation, Hearing impairment, Supernumerary nipple, Protruding ear, Absent eyelashe...	ORPHA:1809
Lambert-Eaton Myasthenic Syndrome	Abnormality of the orbital region, Small cell lung carcinoma, Keratoconjunctivitis sicca, Calcium...	ORPHA:43393
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Periodic paralysis	OMIM:188580
Fixed Drug Eruption	Crusting erythematous dermatitis, Stomatitis	ORPHA:293812
Diarrhea 11, Malabsorptive, Congenital	Diarrhea, Villous atrophy	OMIM:618662
Kury-Isidor Syndrome	Alopecia, Hypertrichosis	OMIM:619762
Trisomy X	Epicanthus, Autoimmunity, Upslanted palpebral fissure, Tremor	ORPHA:3375
Autosomal Dominant Centronuclear Myopathy	Ptosis, Cryptorchidism	ORPHA:169189
Neuropathy, Hereditary Sensory, Type If	Osteomyelitis, Hyperkeratosis	OMIM:615632
Bile Acid Malabsorption, Primary, 1	Growth delay, Failure to thrive, Steatorrhea, Chronic diarrhea, Fat malabsorption	OMIM:613291
Trisomy 8Q	Upslanted palpebral fissure, Hypoplasia of penis, Cryptorchidism, Displacement of the urethral me...	ORPHA:1752
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Interlobular septal thickening, Subpleural interstitial thic...	ORPHA:60025
Scorpion Envenomation	Erythema, Diarrhea, Premature ventricular contraction, Arrhythmia, Tachypnea, Abdominal pain, Tac...	ORPHA:466677
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Gastroesophageal reflux, Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Severe...	ORPHA:435938
8Q21.11 Microdeletion Syndrome	Downslanted palpebral fissures, Cryptorchidism, Epicanthus, Ptosis, Blepharophimosis, Hypoplasia ...	ORPHA:284160
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Homocystinuria, Failure to thrive, Apnea, Lethargy, Feeding difficulties in infancy	ORPHA:395
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Low-set ears, Cryptorchidism, Sensorineural hearing impairment, Epicanthus, Blepharophimosis, Hig...	OMIM:616975
Recombinant 8 Syndrome	Redundant skin, Small scrotum, Hypoplastic male external genitalia, Cryptorchidism	ORPHA:96167
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o...	ORPHA:435651
Arthrogryposis, Distal, Type 12	Ptosis, Hydrocele testis, Cryptorchidism	OMIM:620545
Naxos Disease	Subungual hyperkeratosis, Sparse eyebrow, Sparse body hair, Acantholysis, Nail dystrophy, Onychol...	OMIM:601214
Chromosome 14Q11-Q22 Deletion Syndrome	Low-set ears, Macroglossia, Short palpebral fissure, Gastroesophageal reflux, Failure to thrive, ...	OMIM:613457
Papillon-Lefèvre Syndrome	Periodontitis, Pustule, Chronic furunculosis, Recurrent respiratory infections, Recurrent skin in...	ORPHA:678
Cantu Syndrome	Congenital hypertrophy of left ventricle, Lymphedema, Long eyelashes, Curly eyelashes, Large for ...	OMIM:239850
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Cutis laxa	OMIM:610842
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Low-set ears, Hydrometrocolpos, Downslanted palpebral fissures, Horseshoe kidney, Respiratory dis...	OMIM:617088
Mycophenolate Mofetil Embryopathy	Iris coloboma, Hearing impairment, Atresia of the external auditory canal, Anotia, Eyelid colobom...	ORPHA:268249
Postaxial Acrofacial Dysostosis	Low-set ears, Cupped ear, Conductive hearing impairment, Downslanted palpebral fissures, Ectropio...	OMIM:263750
Developmental Delay With Or Without Dysmorphic Facies And Autism	Low-set ears, Small scrotum, Highly arched eyebrow, Renal hypoplasia, Lacrimal duct aplasia, Hear...	OMIM:618454
Glutaric Aciduria Iii	Glutaric aciduria, Diarrhea, Vomiting, Failure to thrive, Goiter, Hyperthyroidism, Hypertension	OMIM:231690
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Xerostomia, Skin ulcer, Gastroesophageal reflux, Malabsorption, Renal insufficiency, Na...	ORPHA:220393
Gm1 Gangliosidosis Type 1	Spasticity, Aspiration pneumonia, Cherry red spot of the macula, Hepatosplenomegaly, Decreased be...	ORPHA:79255
Ochoa Syndrome	Cryptorchidism	ORPHA:2704
Monosomy 18P	Low posterior hairline, Alopecia	ORPHA:1598
Noonan Syndrome With Multiple Lentigines	Decreased fertility, Cryptorchidism, Excessive wrinkled skin, Hyperextensible skin, Ptosis, Hypos...	ORPHA:500
Opsismodysplasia	Low-set ears, Renal phosphate wasting, Oligohydramnios, Long palpebral fissure, Hypophosphatemia,...	OMIM:258480
Isolated Osteopoikilosis	Discoid lupus rash, Abnormality of the endocrine system, Autoimmunity	ORPHA:166119
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Small for gestational age, Protuberant abdomen	OMIM:613330
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Ptosis	ORPHA:1969
Mowat-Wilson Syndrome	Ectopia pupillae, Recurrent otitis media, Supernumerary nipple, Cryptorchidism, Uplifted earlobe,...	OMIM:235730
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Highly arched eyebrow, Gastroesophageal reflux, Hydroureter, Hearing impairment, Hooded eyelid, L...	OMIM:610759
Zttk Syndrome	Low-set ears, Absent gallbladder, Epicanthus, Feeding difficulties in infancy, High palate, Aorti...	OMIM:617140
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Low-set ears, Elevated circulating luteinizing hormone level, Abnormal earlobe morphology, Abnorm...	ORPHA:95699
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Ethylmalonic aciduria, Gastroesophageal reflux, Vomiting, Elevated circulating hepatic transamina...	ORPHA:17
Lethal Acantholytic Erosive Disorder	Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyelashes, Absent eyebrow, Acant...	ORPHA:158687
Nephronophthisis 1	Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub...	OMIM:256100
Supranuclear Palsy, Progressive, 2	Postural tremor, Retrocollis, Rigidity, Parkinsonism, Bradykinesia, Eyelid apraxia	OMIM:609454
Woodhouse-Sakati Syndrome	Alopecia, Fine hair, Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Premat...	OMIM:241080
Coffin-Siris Syndrome 12	Low-set ears, Velopharyngeal insufficiency, Cryptorchidism, Chronic constipation, Sensorineural h...	OMIM:619325
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal auditory evoked potentials, Abnormal circulating enzyme concentration or...	ORPHA:909
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism...	ORPHA:91351
Colonic Atresia	Abnormal mesentery morphology, Abdominal situs inversus, Abdominal distention	ORPHA:1198
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Rhizomelia, Conductive hearing impairment, Atresia of the external auditory canal, Downslanted pa...	OMIM:602471
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Cryptorchidism, Downslanted palpebral fissures	OMIM:619135
Epidermolysis Bullosa Simplex With Pyloric Atresia	Vomiting, Abnormality of the urethra, Ureterocele, Abdominal distention, Elevated circulating cre...	ORPHA:158684
Stolerman Neurodevelopmental Syndrome	Epicanthus, Hypoplastic nipples, Telecanthus, Cryptorchidism	OMIM:618505
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
Gabriele-De Vries Syndrome	Low-set ears, Sparse eyebrow, Downslanted palpebral fissures, Telecanthus, Intrauterine growth re...	OMIM:617557
Nablus Mask-Like Facial Syndrome	Highly arched eyebrow, Short palpebral fissure, Sparse eyebrow, Telecanthus, Cryptorchidism, Spar...	OMIM:608156
Adult-Onset Autosomal Dominant Leukodystrophy	Upper limb postural tremor, Spasticity, Tetraparesis, Aspiration pneumonia, Gait ataxia, Action t...	ORPHA:99027
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Increased circulating antibody level, Hypercholesterolemia, Hypo...	ORPHA:86816
Arthrogryposis, Distal, Type 3	Epicanthus, Ptosis, Cryptorchidism	OMIM:114300
Diarrhea 1, Secretory Chloride, Congenital	Secretory diarrhea, Failure to thrive, Hyperaldosteronism, Hyponatremia, Hypokalemia, Abdominal d...	OMIM:214700
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Postnatal growth retardation, Astigmatism, Cryptorchidism, Int...	ORPHA:2323
Bosma Arhinia Microphthalmia Syndrome	Lacrimal duct atresia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, P...	OMIM:603457
Carey-Fineman-Ziter Syndrome 1	Cataract, Microglossia, Gastroesophageal reflux, Failure to thrive, Growth delay, Downslanted pal...	OMIM:254940
Nicolaides-Baraitser Syndrome	Unilateral narrow palpebral fissure, Cryptorchidism, Excessive wrinkled skin, Absent eyebrow, Nar...	OMIM:601358
Alpha-Mannosidosis, Infantile Form	Pneumonia, Cataract, Highly arched eyebrow, Aortic regurgitation, Depression, Oligosacchariduria,...	ORPHA:309282
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Onychogryposis of toenails, Fingernail dysplasia, Nail dy...	ORPHA:2309
Shprintzen-Goldberg Syndrome	High, narrow palate, Low-set ears, Gastroesophageal reflux, Conductive hearing impairment, Failur...	ORPHA:2462
Gapo Syndrome	Alopecia, Sparse eyebrow, Breast hypoplasia, Redundant skin, Sparse eyelashes, Nail dysplasia, Hy...	OMIM:230740
Floating-Harbor Syndrome	Low-set ears, Cryptorchidism, Celiac disease, Polycystic kidney dysplasia, Hypospadias, Precociou...	ORPHA:2044
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Gastroesophageal reflux, Abdominal distention, Feeding difficulties, Sensorineural hearing impair...	OMIM:620275
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Short palpebral fissure, Uterus didelphys, Gonadal dysgenesis, Streak ovary...	OMIM:618820
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Bronchiectasis	OMIM:615434
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Megacystis, Pyelonephritis, Oligohydramnios, Sensorineural hearing impairment, Peritoniti...	OMIM:619351
Endocrine-Cerebroosteodysplasia	Small scrotum, Ankyloblepharon, Microphallus, Cryptorchidism, Ambiguous genitalia, Adrenal hypopl...	OMIM:612651
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Aspiration pneumonia, Myoclonus, Left ventricular hypertrophy, Ataxia, Hepatomegaly	OMIM:619167
Ayme-Gripp Syndrome	Low-set ears, Hearing impairment, Downslanted palpebral fissures, Upslanted palpebral fissure, Se...	OMIM:601088
Iron Overload, Susceptibility To	Increased circulating ferritin concentration, Type II diabetes mellitus, Elevated hepatic iron co...	OMIM:620121
Camurati-Engelmann Disease	Bone marrow hypocellularity, Hearing impairment, Slender build, Reduced subcutaneous adipose tiss...	OMIM:131300
Chromosome 8Q21.11 Deletion Syndrome	Short palpebral fissure, Downslanted palpebral fissures, Cryptorchidism, Epicanthus, Ptosis, Micr...	OMIM:614230
Bent Bone Dysplasia Syndrome 2	Micropenis, Hepatomegaly, Intrauterine growth retardation, Shawl scrotum	OMIM:620076
Kabuki Syndrome	Cryptorchidism, Sensorineural hearing impairment, High palate, Hypospadias, Macrotia, Precocious ...	ORPHA:2322
Fetal Akinesia Deformation Sequence	Pterygium, Cryptorchidism	ORPHA:994
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Highly arched eyebrow, Downslanted palpebral fissures, Supernumerary nipple, Cryptorchidism, Chor...	OMIM:616728
Opitz Gbbb Syndrome	Low-set ears, Gastroesophageal reflux, Growth delay, Congenital posterior urethral valve, Rectour...	OMIM:300000
Bickerstaff Brainstem Encephalitis	Pneumonia, Mydriasis, Facial paralysis, Tetraparesis, Respiratory tract infection, Babinski sign,...	ORPHA:79138
Ehlers-Danlos Syndrome, Vascular Type	Periodontitis, Uterine rupture, Cryptorchidism, Mitral valve prolapse, Pulmonary bulla, Fragile s...	OMIM:130050
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Muscular ventricular septal defect...	OMIM:115197
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph...	ORPHA:324410
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Low-set ears, Highly arched eyebrow, Gastroesophageal reflux, Failure to thrive, Downslanted palp...	OMIM:620083
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Ethylmalonic aciduria, Failure to thrive, Cardiomyopathy, Lethargy, Sutural cataract, Feeding dif...	OMIM:201470
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Diarrhea, Vomiting, Failure to thrive, Hyperaldosteronism, Pseudohypoaldosteronism, ...	OMIM:177735
Pitt-Hopkins Syndrome	Abnormal helix morphology, Gastroesophageal reflux, Failure to thrive, Supernumerary nipple, Post...	ORPHA:2896
Williams Syndrome	Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Sensorineural hearing impairmen...	ORPHA:904
Oculocerebrocutaneous Syndrome	Abnormal fingernail morphology, Alopecia, Cryptorchidism	ORPHA:1647
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Abnormal earlobe morphology, La...	ORPHA:96191
Kapur-Toriello Syndrome	Low-set ears, Cataract, Conductive hearing impairment, Intestinal malrotation, Intrauterine growt...	OMIM:244300
Radio-Renal Syndrome	Chylothorax, Pleural effusion, Multicystic kidney dysplasia	ORPHA:3015
Glossopharyngeal Neuralgia	Autoimmunity, Weight loss, Vocal cord paralysis	ORPHA:221098
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog...	ORPHA:435660
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Megacystis, Oligohydramnios, Nephrolithiasis, Abdominal distention, Recurrent respiratory infecti...	OMIM:619365
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration	OMIM:162400
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Neuropathy, Hereditary Sensory And Autonomic, Type V	Urinary incontinence, Diarrhea, Osteomyelitis, Acral ulceration, Constipation, Osteoarthritis, Se...	OMIM:608654
Parietal Foramina With Cleidocranial Dysplasia	Microtia	OMIM:168550
Visceral Myopathy, Familial, With External Ophthalmoplegia	Malnutrition, Gastroparesis, Ptosis, Abdominal distention, Abdominal pain	OMIM:277320
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis, Microtia	OMIM:619817
Prune Belly Syndrome	Cryptorchidism	OMIM:100100
Fraser Syndrome 3	Small scrotum, Hypoplasia of penis, Cryptophthalmos, Stillbirth	OMIM:617667
Microtia	Hypoplastic helices, Atresia of the external auditory canal, Anotia, Unilateral conductive hearin...	ORPHA:83463
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Chylothorax, Nasogastric tube feeding, Gastrostomy tube feeding in infancy, Tube feeding, Dysphag...	OMIM:620278
Osteoglosphonic Dysplasia	Cryptorchidism	ORPHA:2645
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration, Paronychia	OMIM:201300
Supranuclear Palsy, Progressive, 1	Retrocollis, Tremor, Rigidity, Parkinsonism, Bradykinesia, Eyelid apraxia	OMIM:601104
Cocaine Intoxication	Hematuria, Colitis, Tachypnea, Glomerulonephritis, Tubulointerstitial nephritis, Abdominal pain, ...	ORPHA:90068
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Recurrent skin infections, Abnorma...	ORPHA:79404
Intestinal Botulism	Mydriasis, Diarrhea, Xerostomia, Nausea and vomiting, Ptosis, Dysphagia	ORPHA:178481
Cerebrotendinous Xanthomatosis	Cataract, Cholelithiasis, Diarrhea, Pseudobulbar paralysis, Xanthelasma, Angina pectoris, Myocard...	OMIM:213700
Houge-Janssens Syndrome 1	Downslanted palpebral fissures, Intrauterine growth retardation, Ptosis, Chronic diarrhea, Pylori...	OMIM:616355
Type 1 Diabetes Mellitus	Autoimmunity, Diabetes mellitus	OMIM:222100
14Q22Q23 Microdeletion Syndrome	Small scrotum, Downslanted palpebral fissures, Cryptorchidism, Epicanthus, Ptosis, Adrenal hypopl...	ORPHA:264200
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Anti-glomerular basement membrane-antibody positivity, Pulmo...	OMIM:233450
Acromelic Frontonasal Dysplasia	Hypopituitarism, Telecanthus, Cryptorchidism, Ptosis, Anterior pituitary hypoplasia	ORPHA:1827
Ullrich Congenital Muscular Dystrophy 1A	Failure to thrive, Slender build, Protruding ear, Feeding difficulties in infancy, Follicular hyp...	OMIM:254090
Glycogen Storage Disease Due To Acid Maltase Deficiency	Increased circulating lactate dehydrogenase concentration, Hearing impairment, Atelectasis, Oligo...	ORPHA:365
Inhalational Botulism	Mydriasis, Diarrhea, Xerostomia, Urinary retention, Nausea and vomiting, Ptosis, Constipation	ORPHA:254504
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Unilateral renal agenesis, Elevated circulating parathyroid hormone level...	OMIM:101800
Beta-Ureidopropionase Deficiency	Bifid scrotum	OMIM:613161
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Recurrent upper respiratory tract infections, Otosclerosis, Conductive hearin...	ORPHA:580
Vici Syndrome	Decreased circulating IgG level, High palate, Decreased circulating IgG2 level	ORPHA:1493
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Pterygium, Polyhydramnios, Nausea and vomiting, Hematu...	ORPHA:79403
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism	ORPHA:77298
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Uterus didelphys, Cryptorchidism, Congenital hepatic fibrosis, Hydronephrosis, ...	ORPHA:93271
Micro Syndrome	Cataract, Microcornea, Macrotia, Low-set, posteriorly rotated ears, Intrauterine growth retardati...	ORPHA:2510
Fontaine Progeroid Syndrome	Low-set ears, Small scrotum, Aplastic/hypoplastic lacrimal glands, Protruding tongue, Cryptorchid...	OMIM:612289
Developmental And Epileptic Encephalopathy 111	Low-set ears, Sinus tachycardia, Long eyelashes, Thick eyebrow, Cryptorchidism, Nephrolithiasis, ...	OMIM:620504
Pontocerebellar Hypoplasia, Type 10	Highly arched eyebrow, Gastroesophageal reflux, Long eyelashes, Cryptorchidism, Long palpebral fi...	OMIM:615803
3Mc Syndrome 2	Highly arched eyebrow, Downslanted palpebral fissures, Cryptorchidism, Ptosis, Blepharophimosis, ...	OMIM:265050
Neu-Laxova Syndrome 2	Low-set ears, Polyhydramnios, Ichthyosis, Protuberant abdomen, Ablepharon, Edema	OMIM:616038
Fatal Familial Insomnia	Weight loss, Myoclonus, Ataxia	OMIM:600072
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Feeding difficulties, Decreased fertility, Weight los...	ORPHA:90794
Hypotrichosis 6	Erythema, Sparse eyebrow, Sparse eyelashes, Follicular hyperkeratosis, Pruritus	OMIM:607903
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s...	OMIM:602668
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism	OMIM:615830
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperprolinemia, Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Recurre...	OMIM:619170
Ane Syndrome	Hypogonadotropic hypogonadism, Alopecia	ORPHA:157954
Bohring-Opitz Syndrome	Cholelithiasis, Vomiting, Annular pancreas, Urinary retention, Low-set, posteriorly rotated ears,...	ORPHA:97297
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Acrofacial Dysostosis, Catania Type	Hypospadias, Cryptorchidism, Downslanted palpebral fissures	ORPHA:1786
Galloway-Mowat Syndrome	Nephropathy, Hypoplasia of the ear cartilage, Intrauterine growth retardation, Hiatus hernia, Pro...	ORPHA:2065
Serotonin Syndrome	Hypotension, Mydriasis, Diarrhea, Hepatic failure, Acute kidney injury, Nausea, Tachypnea, Tachyc...	ORPHA:43116
Dpagt1-Cdg	Thickened skin, Elevated circulating hepatic transaminase concentration, Anasarca, Hearing impair...	ORPHA:86309
Harrod Syndrome	Cataract, Multicystic kidney dysplasia, Failure to thrive, Intrauterine growth retardation, Crypt...	ORPHA:2115
Cutis Laxa, Autosomal Recessive, Type Iid	Low-set ears, Cataract, Failure to thrive, Downslanted palpebral fissures, Bilateral cryptorchidi...	OMIM:617403
Botulism	Mydriasis, Diarrhea, Xerostomia, Urinary retention, Nausea and vomiting, Arrhythmia, Constipation...	ORPHA:1267
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Conductive hearing impairment, Growth delay, Cardiomyopathy, Heparan sulfate excret...	ORPHA:217085
Keutel Syndrome	Alopecia	ORPHA:85202
Parathyroid Carcinoma	Abnormal parathyroid morphology, Nausea and vomiting, Hypophosphatemia, Weight loss, Dysphagia, P...	ORPHA:143
Encephalitis Lethargica	Urinary incontinence, Lethargy, Bowel incontinence, Bradycardia	ORPHA:83600
Arterial Tortuosity Syndrome	Aortic valve stenosis, Bifid uvula, Keratoconus, Short palpebral fissure, Aortic regurgitation, B...	OMIM:208050
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o...	ORPHA:79085
Blau Syndrome	Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Skin ulcer, Synovitis, Arthritis, Eryth...	OMIM:186580
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Abnormality of the Leydig cells, Cryptorchidism, Upslanted palpebral fissure, Tes...	ORPHA:3063
Trichorhinophalangeal Syndrome, Type Ii	Hydrometrocolpos, Bilateral cryptorchidism, Dry skin, Redundant skin in infancy, Thick eyebrow, A...	OMIM:150230
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis, Neoplasm of the heart, Cryptorchidism, Nau...	ORPHA:2241
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adren...	OMIM:130650
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Low-set ears, Highly arched eyebrow, Anteriorly placed anus, Supernumerary nipple, Obesity, Vesic...	OMIM:618653
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Low-set ears, Cataract, Growth delay, Failure to thrive, Hypertrophic cardiomyopathy, Gastropares...	OMIM:614052
Kanzaki Disease	Dry skin, Petechiae	OMIM:609242
Adenocarcinoma Of The Anal Canal	Intestinal bleeding, Skin ulcer, Neoplasm of the liver, Lymphadenopathy, Abdominal pain, Neoplasm...	ORPHA:424016
Multiple Pterygium-Malignant Hyperthermia Syndrome	Small scrotum, Ptosis, Cryptorchidism, Downslanted palpebral fissures	ORPHA:2215
Neurofaciodigitorenal Syndrome	Low-set ears, Unilateral renal agenesis, Atresia of the external auditory canal, Downslanted palp...	ORPHA:2673
Gjc2-Related Late-Onset Primary Lymphedema	Abnormal lymphatic vessel morphology, Recurrent skin infections, Hypoplasia of lymphatic vessels	ORPHA:568051
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Cryptorchidism, Anterior pituitary hypoplasia, Hypospadias, Duodenal atres...	ORPHA:464306
Elsahy-Waters Syndrome	Low-set ears, Bifid uvula, Anal stenosis, Cataract, Bifid scrotum, Anteriorly placed anus, Bilate...	OMIM:211380
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Recurrent skin infections, Hypohidrosis	OMIM:616488
Absent Radius-Anogenital Anomalies Syndrome	Anal atresia, Rectal atresia, Rectovaginal fistula, Perineal fistula	ORPHA:3016
Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Decreased circulating IgG level, Highly arched eyebrow, Epicanthus inversus, Cupped...	OMIM:617062
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Conductive hearing impairment, Growth delay, Cardiomyopathy, Heparan sulfate excret...	ORPHA:217093
Lmna-Related Cardiocutaneous Progeria Syndrome	Alopecia universalis, Premature graying of hair, Premature skin wrinkling, Absent eyelashes, Abse...	ORPHA:363618
Myasthenia Gravis	Thymoma, Abnormality of the endocrine system, Autoimmunity	OMIM:254200
Phosphoribosylpyrophosphate Synthetase Superactivity	Low-set ears, Hearing impairment, Downslanted palpebral fissures, Urolithiasis, Gout, Cryptorchid...	OMIM:300661
Pachyonychia Congenita 2	Angular cheilitis, Folliculitis, Palmoplantar hyperhidrosis	OMIM:167210
Trisomy 8P	Bifid uvula, Malrotation of small bowel, Nephrocalcinosis, Annular pancreas, Conductive hearing i...	ORPHA:264450
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Esophageal varix	OMIM:616028
Loeys-Dietz Syndrome 6	Bifid uvula, Hip osteoarthritis, Broad uvula, Bruising susceptibility, Downslanted palpebral fiss...	OMIM:619656
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, Abnormal heart morphology, Tetralogy of Fallot, Cryptorchidism, Hydronephrosi...	ORPHA:96092
Fibrochondrogenesis 1	Low-set ears, Patent foramen ovale, Protuberant abdomen, Hydrops fetalis, Abnormal pinna morphology	OMIM:228520
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Multicystic kidney dysplasia, Cryptorchidism, Sensorineural hearing impairm...	ORPHA:818
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia, Reticulocytosis	OMIM:266120
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal helix morphology, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Upsl...	ORPHA:1005
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Hearing impairment, Abnormal earlobe morphology, Cryptorchidism, Chronic c...	ORPHA:96121
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Conductive hearing impairment, Elevated urinary norepinephrine l...	ORPHA:276621
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Hyperkeratosis	ORPHA:2611
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Diarrhea, Gastroesophageal reflux, Vomiting, Growth delay, Recurrent corneal erosions, Hypertensi...	OMIM:223900
Beck-Fahrner Syndrome	Ventricular septal defect, Protruding ear, Cardiomegaly, Feeding difficulties in infancy, Ptosis,...	OMIM:618798
Gastroesophageal Reflux	Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm	OMIM:109350
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Imperforate hymen, Axillary apocrine gland hypoplasia...	OMIM:181450
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Low-set ears, Polyhydramnios, Protuberant abdomen, Pulmonary hypoplasia	OMIM:151210
Multiple Pterygium Syndrome, Escobar Variant	Axillary pterygium, Low-set ears, Intercrural pterygium, Popliteal pterygium, Conductive hearing ...	OMIM:265000
Floating-Harbor Syndrome	Low-set ears, Varicocele, Atopic dermatitis, Nephrocalcinosis, Conductive hearing impairment, Gla...	OMIM:136140
Shprintzen-Goldberg Craniosynostosis Syndrome	Low-set ears, Gastroesophageal reflux, Conductive hearing impairment, Downslanted palpebral fissu...	OMIM:182212
Autosomal Dominant Kenny-Caffey Syndrome	Growth delay, Decreased testicular size, Postnatal growth retardation, Intrauterine growth retard...	ORPHA:93325
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypotension, Impaired renal uric acid clearance, Renal hypoplasia, Decreased glomerular filtratio...	OMIM:174000
Insensitivity To Pain, Congenital, With Anhidrosis	Nail dysplasia, Acral ulceration, Nail dystrophy, Sparse scalp hair	OMIM:256800
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninem...	OMIM:619051
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem...	OMIM:605735
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Increased circulating prolactin concentration, Recurrent otitis media, Prominent sc...	ORPHA:3455
North American Indian Childhood Cirrhosis	Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension	OMIM:604901
Ulnar-Mammary Syndrome	Abnormality of the uterus, Breast aplasia, Decreased fertility, Cryptorchidism, Hypoplastic nippl...	ORPHA:3138
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Micropenis, Cryptorchidism	OMIM:610125
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Recurrent otitis media, Chronic sinusitis, Abdominal situs inversus, Male infertility	OMIM:619607
Liposarcoma	Weight loss	ORPHA:69078
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Cryptorchidism, Hypospadias, Posterior pituitary hypoplasia, Duodenal atre...	ORPHA:464311
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Colonic diverticula, Diarrhea, Elevated circulating calcitonin concentration...	OMIM:162300
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Diarrhea, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolac...	OMIM:131100
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Low-set ears, Unilateral renal agenesis, Hydroureter, Disproportionate short-limb short stature, ...	OMIM:619194
Mend Syndrome	Aortic valve stenosis, Cataract, Low-set ears, Failure to thrive, Crossed fused renal ectopia, Cr...	OMIM:300960
Osteogenesis Imperfecta	Aortic regurgitation, Rhizomelia, Growth delay, Bruising susceptibility, Hearing impairment, Prog...	ORPHA:666
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Sparse eyebrow, Elevated circulating hepatic transaminase con...	OMIM:619127
Congenital Myopathy 13	Short palpebral fissure, Downslanted palpebral fissures, Telecanthus, Cryptorchidism, Ptosis, Ble...	OMIM:255995
Autosomal Dominant Cutis Laxa	Low-set ears, Small bowel diverticula, Postnatal growth retardation, Mitral regurgitation, Aortic...	ORPHA:90348
Lethal Kniest-Like Dysplasia	Low-set ears, Atrial septal defect, Protuberant abdomen, Polyhydramnios, Edema	ORPHA:2347
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypogonadism, External genital hypoplasia, Redundant skin, Cryptorchid...	ORPHA:2658
Lateral Meningocele Syndrome	High, narrow palate, Low-set ears, Conductive hearing impairment, Atresia of the external auditor...	ORPHA:2789
Distal Deletion 3P	Telecanthus, Cryptorchidism, Epicanthus, Ptosis, Blepharophimosis	ORPHA:1620
Williams-Beuren Syndrome	Recurrent otitis media, Mitral regurgitation, Chronic constipation, Sensorineural hearing impairm...	OMIM:194050
Frontonasal Dysplasia 2	Sparse eyebrow, Fine hair, Bilateral cryptorchidism, Alopecia totalis, Sparse eyelashes, Sparse hair	OMIM:613451
Microphthalmia, Lenz Type	Hypospadias, Microcornea, Cataract, Ankyloblepharon, Hydroureter, Hearing impairment, Low-set, po...	ORPHA:568
Gabriele-De Vries Syndrome	Low-set ears, Oral-pharyngeal dysphagia, Cryptorchidism, Feeding difficulties in infancy, High pa...	ORPHA:506358
Leopard Syndrome 1	Low-set ears, Unilateral renal agenesis, Third degree atrioventricular block, Hypertrophic cardio...	OMIM:151100
New-Onset Refractory Status Epilepticus	Autoimmunity, Infectious encephalitis	ORPHA:363558
Congenital Tricuspid Valve Dysplasia	Small for gestational age, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cya...	ORPHA:555874
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Palmoplantar keratoderma, Ichthyosis, Ectropion, Hyperkeratosis, Congenital nonbullous ...	OMIM:606545
Humeroradial Synostosis	Renal insufficiency, Small earlobe, Microtia	OMIM:236400
Trichotillomania	Alopecia	OMIM:613229
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Gastroesophageal reflux, Dilated cardiomyopathy, Depression, Growth delay...	ORPHA:79408
Enterokinase Deficiency	Diarrhea, Failure to thrive	OMIM:226200
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Alopecia	OMIM:163200
Currarino Syndrome	Horseshoe kidney, Septate vagina, Vesicoureteral reflux, Chronic constipation, Perianal abscess, ...	OMIM:176450
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Sparse eyebrow, Supernumerary nipple, Downslanted palpebral fissures, Bilateral ptosis, Cryptorch...	ORPHA:477993
Fraser Syndrome 1	Low-set ears, Clitoral hypertrophy, Atresia of the external auditory canal, Abnormal middle ear m...	OMIM:219000
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Microvillus Inclusion Disease	Nephrocalcinosis, Diarrhea, Abdominal distention, Pruritus, Dehydration, Abnormal renal physiology	ORPHA:2290
Localized Scleroderma	Erythema, Fasciitis, Esophagitis, Autoimmunity, Hashimoto thyroiditis, Arthritis, Uveitis	ORPHA:90289
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility	ORPHA:2239
Hypotonia, Ataxia, And Delayed Development Syndrome	Low-set ears, Gastroesophageal reflux, Horizontal eyebrow, Downslanted palpebral fissures, Thick ...	OMIM:617330
Neonatal Marfan Syndrome	High, narrow palate, Low-set ears, Crumpled ear, Ectopia lentis, Downslanted palpebral fissures, ...	ORPHA:284979
Kbg Syndrome	Downslanted palpebral fissures, Telecanthus, Thick eyebrow, Cryptorchidism, Long palpebral fissur...	OMIM:148050
Treacher Collins Syndrome 2	Conductive hearing impairment, Fusion of middle ear ossicles, Downslanted palpebral fissures, Ano...	OMIM:613717
Microphthalmia With Brain And Digit Anomalies	Abnormality of the hypothalamus-pituitary axis, Cryptorchidism	ORPHA:139471
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypogonadism, Hypoplasia of penis, External genital hypoplasia, Cryptorchidism	ORPHA:2250
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Weight loss, Glomerular sclerosis, Paroxysmal vertigo, Paraganglioma of head and neck,...	ORPHA:29072
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Premature Aging Syndrome, Penttinen Type	Thickened skin, Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive...	OMIM:601812
Weaver Syndrome	Downslanted palpebral fissures, Cryptorchidism, Epicanthus, Cutis laxa, Hydrocele testis	OMIM:277590
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatine kinase concen...	OMIM:606002
Acrocardiofacial Syndrome	Low-set ears, Long eyelashes, Intrauterine growth retardation, Cryptorchidism, Mitral stenosis, F...	ORPHA:2008
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Microtia, Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear	OMIM:251800
Chromosome Xp11.3 Deletion Syndrome	Cryptorchidism	OMIM:300578
Encephalocraniocutaneous Lipomatosis	Limbal dermoid, Cryptorchidism, Eyelid coloboma	OMIM:613001
Miller-Dieker Lissencephaly Syndrome	Low-set ears, Cataract, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Upsla...	OMIM:247200
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Sparse hair, Brittle hair	OMIM:608612
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Highly arched eyebrow, Sparse eyebrow, Aortic regurgitation, Tricuspid ste...	OMIM:143095
Mandibuloacral Dysplasia	Alopecia, Sparse hair, Hypoplastic fingernail	ORPHA:2457
Coffin-Siris Syndrome	Prominent eyelashes, Hearing impairment, Growth delay, Aspiration pneumonia, Horseshoe kidney, Po...	ORPHA:1465
16P13.11 Microdeletion Syndrome	Low-set ears, Gastroesophageal reflux, Atresia of the external auditory canal, Downslanted palpeb...	ORPHA:261236
Hajdu-Cheney Syndrome	Low-set ears, Iris coloboma, Conductive hearing impairment, Failure to thrive, Downslanted palpeb...	OMIM:102500
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Low-set ears, Gastroesophageal reflux, Downslanted palpebral fissures, Short ear, Long eyelashes,...	OMIM:614756
Thanatophoric Dysplasia, Type I	Polyhydramnios, Protuberant abdomen, Pulmonary hypoplasia	OMIM:187600
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Low-set ears, Hearing impairment, Cryptorchidism, Mitral regurgitation, Nephrotic syndrome, High ...	OMIM:601776
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Cataract, Myoclonus, Gait ataxia, Dysmetria, Babinski sign, Progressive gait ataxia, Ptosis, Weig...	OMIM:607459
1Q21.1 Microdeletion Syndrome	Cataract, Depression, Failure to thrive, Ankyloglossia, Intrauterine growth retardation, Vesicour...	ORPHA:250989
Combined Oxidative Phosphorylation Deficiency 25	Failure to thrive, Aspiration pneumonia	OMIM:616430
Atelosteogenesis Type Ii	Low-set ears, Telecanthus, Epicanthus, Protuberant abdomen, Polyhydramnios, Pulmonary hypoplasia	ORPHA:56304
Ellis Van Creveld Syndrome	Acute leukemia, Hydroureter, Failure to thrive, Abnormal morphology of female internal genitalia,...	ORPHA:289
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Axillary pterygium, Intractable diarrhea, Congenital pyloric atresia, Urethrovesical occlusion, E...	OMIM:226730
Simpson-Golabi-Behmel Syndrome, Type 1	Hearing impairment, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Epicanthus, ...	OMIM:312870
Hallermann-Streiff Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Cryptorchidism, Sparse eyelashes, Abnormality of hair...	ORPHA:2108
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Hydranencephaly	Atrophic pituitary gland, Postnatal growth retardation, Intrauterine growth retardation, Lethargy...	ORPHA:2177
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Increased circulating copper concentration, Cirrhosis, Copper accumulation in ...	ORPHA:209919
Aapoaiv Amyloidosis	Paraproteinemia, Elevated circulating creatinine concentration, Abnormality of the gastrointestin...	ORPHA:439232
Caudal Regression Syndrome	Ambiguous genitalia, Maternal diabetes, Cryptorchidism	ORPHA:3027
Atelosteogenesis, Type I	Low-set ears, Polyhydramnios, Cryptorchidism, Protuberant abdomen	OMIM:108720
Chilton-Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Recurrent otitis media, Ankyloglossia, Cryptorchidism, Sensorineural hearing impair...	OMIM:619841
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Low-set ears, Small pituitary gland, Posteriorly rotated ears, Protuberant abdomen, Micropenis, T...	OMIM:619479
Cardiomyopathy, Familial Hypertrophic, 27	Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic cardiomyopathy, Cardiomyocyte hyp...	OMIM:618052
Fibrochondrogenesis 2	Protuberant abdomen	OMIM:614524
Roberts-Sc Phocomelia Syndrome	Low-set ears, Clitoral hypertrophy, Postnatal growth retardation, Enlarged labia minora, Cryptorc...	OMIM:268300
Norrie Disease	Cataract, Ectopia lentis, Failure to thrive, Hypoplasia of the iris, Abnormal pupil morphology, C...	ORPHA:649
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Protuberant abdomen	OMIM:618019
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hidrotic ectodermal dysplasia, Hyperkeratosis, Sensorineural hearing impairment	ORPHA:1883
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Protuberant abdomen	OMIM:184250
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Adrenocorticotropic hormon...	OMIM:615926
Distal Deletion 15Q	Low-set ears, Multicystic kidney dysplasia, Growth delay, Failure to thrive, Hearing impairment, ...	ORPHA:1596
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Downslanted palpebral fissures, Long eyelashes, Hypoplastic labia mino...	ORPHA:3107
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Hearing impairment, Absent gallbladder, Epicanthus, Feeding difficulties in infancy...	ORPHA:500150
Isotretinoin Embryopathy-Like Syndrome	Anotia, Cleft palate, Microtia	OMIM:243440
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Ovarian cyst, Epicanthus, Bilateral sensorineural h...	OMIM:614527
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Cutaneous photosensitivity, Follicular hyperker...	OMIM:618546
Lenz-Majewski Hyperostotic Dwarfism	Microglossia, Failure to thrive, Anteriorly placed anus, Macrotia, Intrauterine growth retardatio...	OMIM:151050
Bardet-Biedl Syndrome 12	Hypogonadism, Vaginal atresia, Hydrometrocolpos	OMIM:615989
Phacoanaphylactic Uveitis	Posterior uveitis, Red eye, Panuveitis, Keratitis, Posterior synechiae of the anterior chamber, A...	ORPHA:209959
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Labial pseudohypert...	OMIM:151660
Lissencephaly Due To Lis1 Mutation	Opisthotonus, Progressive spastic quadriplegia, Tetraplegia, Aspiration pneumonia	ORPHA:95232
Slc39A8-Cdg	Low-set ears, Hearing impairment, Failure to thrive in infancy, Abnormality of the liver, Decreas...	ORPHA:468699
Cardiospondylocarpofacial Syndrome	Low-set ears, Recurrent otitis media, Mitral regurgitation, Epicanthus, Enlarged vestibular aqued...	OMIM:157800
Distal Deletion 19P	Alopecia, Thick eyebrow, Vaginal hernia	ORPHA:96129
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hearing impairment, Adrenal calcification, Sensorineural hearing impairm...	ORPHA:51608
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Low-set ears, Bifid uvula, Short palpebral fissure, Severe short stature, Growth delay, Failure t...	ORPHA:3047
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Cryptorchi...	ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Cryptorchi...	ORPHA:453504
Robinow Syndrome, Autosomal Dominant 3	Low-set ears, Hearing impairment, Anteriorly placed anus, Tricuspid regurgitation, Long eyelashes...	OMIM:616894
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s...	OMIM:615067
Hereditary Angioedema Type 1	Hypotension, Diarrhea, Vomiting, Respiratory distress, Intestinal edema, Abdominal pain, Limbal e...	ORPHA:100050
Gorlin Syndrome	Telecanthus, Cryptorchidism, Hypogonadotropic hypogonadism, Ovarian fibroma, Epicanthus	ORPHA:377
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Failure to thrive, Bilateral ptosis, Apraxia, Weight loss, Ataxia, Reduced...	ORPHA:99885
Extracranial Carotid Artery Aneurysm	Total anomalous pulmonary venous return, Arteritis, Diabetes mellitus, Autoimmunity	ORPHA:494424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Low-set ears, Elevated circulating creatine kinase concentration, Microtia	OMIM:614643
Mercury Poisoning	Nausea, Interstitial pneumonitis, Episodic vomiting	ORPHA:330021
Fowler Urethral Sphincter Dysfunction Syndrome	Acne	ORPHA:2795
Pseudotrisomy 13 Syndrome	Upslanted palpebral fissure, Cryptorchidism, Adrenal hypoplasia, Micropenis, Bicornuate uterus	OMIM:264480
Crane-Heise Syndrome	Hypoplasia of penis, Cryptorchidism	ORPHA:1512
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Vertigo, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiom...	OMIM:619259
Achondrogenesis, Type Ia	Low-set ears, Increased nuchal translucency, Protuberant abdomen, Polyhydramnios, Hydrops fetalis...	OMIM:200600
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Low-set ears, Posterior subcapsular cataract, Hearing impairment, Megaloco...	ORPHA:536471
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Oligohydramnios, Aplasia of the vagina, Hydronephrosis, Aplasia of the...	OMIM:271520
Yunis-Varon Syndrome	Low-set ears, Clitoral hypertrophy, Hearing impairment, Cryptorchidism, Sparse eyelashes, Ventric...	ORPHA:3472
Alzahrani-Kuwahara Syndrome	Dry skin, Hypospadias	OMIM:619268
Cystic Fibrosis	Elevated circulating hepatic transaminase concentration, Decreased body mass index, Failure to th...	ORPHA:586
Schneckenbecken Dysplasia	Polyhydramnios, Protuberant abdomen, Nonimmune hydrops fetalis	OMIM:269250
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Downslanted palpebral fissures, Supernumerary nipple, Astigmatism, Submucous cleft ...	ORPHA:457279
Cutis Laxa, Autosomal Dominant 1	Hyperextensible skin, Cutis laxa, Redundant skin, Uterine prolapse	OMIM:123700
Aortic Aneurysm, Familial Thoracic 10	Striae distensae	OMIM:617168
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia,...	ORPHA:2255
Loeys-Dietz Syndrome 1	Low-set ears, Bifid uvula, Ectopia lentis, Downslanted palpebral fissures, Striae distensae, Prot...	OMIM:609192
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Low-set ears, Hyperkeratosis	ORPHA:163966
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Oligohydr...	ORPHA:1851
Ehlers-Danlos Syndrome, Periodontal Type, 1	Palmoplantar cutis laxa, Autoimmunity, Periodontitis	OMIM:130080
Dysbetalipoproteinemia	Corneal arcus, Xanthelasma, Obesity, Gout, Hepatic steatosis, Angina pectoris, Hypothyroidism, He...	ORPHA:412
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia, Telecanthus	OMIM:258865
Proximal Renal Tubular Acidosis	Diarrhea, Bicarbonaturia, Aminoaciduria, Cataract, Malabsorption, Hypovolemia, Nephrocalcinosis, ...	ORPHA:47159
Acrocallosal Syndrome	Low-set ears, Bifid uvula, Growth delay, Failure to thrive, Hearing impairment, Downslanted palpe...	OMIM:200990
Geroderma Osteodysplasticum	Cutis laxa, Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Downslanted palpe...	OMIM:231070
Geleophysic Dysplasia 3	Pneumonia, Hepatomegaly	OMIM:617809
Bartter Syndrome, Type 2, Antenatal	Diarrhea, Renal salt wasting, Renal potassium wasting, Macrotia, Hyperchloriduria, Increased urin...	OMIM:241200
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Perlman Syndrome	Low-set ears, Distal ileal atresia, Visceromegaly, Volvulus, Renal hamartoma, Ascites, Large for ...	OMIM:267000
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Osteomyelitis, Obesity, Autoimmunity, Lupus anticoagulant, A...	ORPHA:70591
Osteoglophonic Dysplasia	Low-set ears, Severe short stature, Rhizomelia, Growth delay, Failure to thrive, Downslanted palp...	OMIM:166250
Cysticercosis	Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir...	ORPHA:1560
Marfan Syndrome	Aortic regurgitation, Cataract, Microspherophakia, Ectopia lentis, Downslanted palpebral fissures...	OMIM:154700
Focal Dermal Hypoplasia	Erythema, Alopecia, Abnormality of the nail	ORPHA:2092
Neurofibroma	Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Abnormal biliary tract...	ORPHA:252183
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Dermal translucency, Cutis laxa, Hyperextensible skin, Soft skin	OMIM:615349
Robinow Syndrome	Webbed penis, Small scrotum, Multicystic kidney dysplasia, Low-set ears, Decreased serum testoste...	ORPHA:97360
Trichorhinophalangeal Syndrome, Type Iii	Protruding ear, Sparse lateral eyebrow, Epidermal hyperkeratosis	OMIM:190351
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Weight loss, Small for gestational age, Hand tremor	ORPHA:424
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Recurrent otitis media, Autoimmunity, Hypothyroidism, Hyperthyroidism, Diabetes mellitus	ORPHA:449291
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Low-set ears, Nephrocalcinosis, Bilateral cryptorchidism, Tricuspid regurgi...	OMIM:617402
Frontometaphyseal Dysplasia 2	Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties in infancy, Delayed pu...	OMIM:617137
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Pleural effusion, Decreased body weight, Cardi...	OMIM:182250
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Microtia-Anotia	Anotia, Microtia	OMIM:600674
Leigh Syndrome	Frontal hirsutism, Alopecia, Hypertrichosis	ORPHA:506
Periventricular Nodular Heterotopia 9	Squared superior portion of helix, Epicanthus, High palate, Microtia, Posteriorly rotated ears, S...	OMIM:618918
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent aspiration pneumonia, Recurrent pneumonia, Chronic constipation	OMIM:300472
Loeys-Dietz Syndrome 3	Mitral regurgitation, Knee osteoarthritis, Eosinophilic infiltration of the esophagus, High palat...	OMIM:613795
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Low-set ears, Short palpebral fissure, Cupped ear, Hearing impairment, Downslanted palpebral fiss...	OMIM:309590
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Conductive hearing impairment, Atresia of the external auditory canal, Downslanted palpebral fiss...	OMIM:608257
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Holoprosencephaly 13, X-Linked	Low-set ears, Gastroesophageal reflux, Hearing impairment, Median cleft palate, Submucous cleft h...	OMIM:301043
Neurofibromatosis Type 1	Precocious puberty, Chronic myelogenous leukemia, Cataract, Hearing impairment, Pheochromocytoma,...	ORPHA:636
Poland Syndrome	Abnormality of the outer ear, Acute leukemia, Renal hypoplasia, Ureterocele, Abnormality of the l...	ORPHA:2911
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Microtia, first degree, Downslanted palpebral fissures, Aplasia of the inner ear, Profound sensor...	OMIM:610706
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Hearing impairment, Downslanted palpebral fissures, Aplasia of the inner ear, Sensorineural heari...	ORPHA:90024
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Dysphagia, Abnormal posturing	OMIM:128100
Native American Myopathy	Bifid uvula, Gastroesophageal reflux, Conductive hearing impairment, Downslanted palpebral fissur...	ORPHA:168572
Achondrogenesis, Type Ii	Polyhydramnios, Hydrops fetalis, Protuberant abdomen, Edema	OMIM:200610
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Meester-Loeys Syndrome	Bifid uvula, Bruising susceptibility, Downslanted palpebral fissures, Striae distensae, Short sta...	OMIM:300989
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent respiratory...	ORPHA:397715
Ellis-Van Creveld Syndrome	Hypospadias, Cryptorchidism, Epispadias	OMIM:225500
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Nephrocalcinosis, Vomiting, Diarrhea, Failure to thrive, Hyperchloriduria, H...	OMIM:601678
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Isolated Arrhinia	Respiratory distress, Eyelid coloboma, Microtia	ORPHA:1134
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypospadias, Cryptorchidism, Ambiguous genitalia, Adrenal hypoplasia, Hypoplasia of penis, Thyroi...	ORPHA:2166
Diaphragmatic Hernia 4, With Cardiovascular Defects	Low-set ears, Webbed neck, Pulmonary artery hypoplasia, Downslanted palpebral fissures, Polyhydra...	OMIM:620025
Sympathetic Ophthalmia	Erythema, Alopecia, Poliosis	ORPHA:79098
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Psoriasiform dermatitis, Abnormality of T cell physiology, Hypoparathyroi...	ORPHA:2237
Angioedema, Hereditary, 1	Erythema, Diarrhea, Vomiting, Intestinal edema, Abdominal pain	OMIM:106100
Velocardiofacial Syndrome	Hypoparathyroidism, Cryptorchidism, Blepharophimosis, Narrow palpebral fissure	OMIM:192430
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal hair morphology, Alopecia, Nail dystrophy	ORPHA:90154
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Hypoplasia of the ear cartilage, Supernumerary nipple, Large earlobe, Telecanthus, Iris coloboma	ORPHA:1236
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Low-set ears, Postnatal growth retardation, Cryptorchidism, Sensorineural ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Low-set ears, Postnatal growth retardation, Cryptorchidism, Sensorineural ...	ORPHA:353277
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Bifid uvula, Bruising susceptibility, Striae distensae, Mitral regurgitatio...	ORPHA:284984
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Biliary cirrhos...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Biliary cirrhos...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Biliary cirrhos...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Biliary cirrhos...	ORPHA:99413
Neurofibromatosis-Noonan Syndrome	Downslanted palpebral fissures, Cryptorchidism, Epicanthus, Lisch nodules, Ptosis	OMIM:601321
Saethre-Chotzen Syndrome	Low-set ears, Hearing impairment, Prominent crus of helix, Abnormal nasolacrimal system morpholog...	OMIM:101400
Proximal Spinal Muscular Atrophy	Gastroesophageal reflux, Gastroparesis, Recurrent infections due to aspiration, Constipation, Rec...	ORPHA:70
Mullerian Aplasia And Hyperandrogenism	Acne	OMIM:158330
Hartsfield Syndrome	Cryptorchidism, Gonadotropin deficiency, Epicanthus, Micropenis, Diabetes insipidus, Hypospadias	OMIM:615465
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Microcornea, Conductive hearing impairment, Bruising susceptibility, High-frequency sensorineural...	OMIM:614557
Microphthalmia, Syndromic 3	Cryptorchidism, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Micropenis, Hypospa...	OMIM:206900
Kyphoscoliotic Ehlers-Danlos Syndrome	Low-set ears, Conductive hearing impairment, Hearing impairment, Poor wound healing, Downslanted ...	ORPHA:536545
Marshall-Smith Syndrome	Highly arched eyebrow, Recurrent upper respiratory tract infections, Failure to thrive, Aspiratio...	OMIM:602535
Loeys-Dietz Syndrome	Striae distensae, Uterine rupture	ORPHA:60030
Thyrotoxic Periodic Paralysis	Periodic hypokalemic paresis, Obesity, Tremor, Respiratory paralysis, Paralysis, Weight loss, Tet...	ORPHA:79102
Blomstrand Lethal Chondrodysplasia	Low-set ears, Telecanthus, Protuberant abdomen, Polyhydramnios, Hydrops fetalis, Pulmonary hypopl...	ORPHA:50945
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	High, narrow palate, Gastroesophageal reflux, Failure to thrive, Downslanted palpebral fissures, ...	ORPHA:466791
Dyggve-Melchior-Clausen Disease	Recurrent upper respiratory tract infections, Failure to thrive, Protuberant abdomen	ORPHA:239
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Failure to thrive, Hydrometrocolpos, Glandular hypospadias, Cryptor...	ORPHA:2473
Cowden Syndrome	Abnormal penis morphology, Follicular thyroid carcinoma, Palmoplantar keratoderma, Hearing impair...	ORPHA:201
Distal 22Q11.2 Microduplication Syndrome	Low-set ears, Unilateral renal agenesis, Abnormal helix morphology, Downslanted palpebral fissure...	ORPHA:261337
Microphthalmia, Syndromic 6	Low-set ears, Small scrotum, Hearing impairment, Cryptorchidism, Uplifted earlobe, Female hypogon...	OMIM:607932
Pyknoachondrogenesis	Low-set ears, Webbed neck, Muscular edema, Abdominal distention, Palpebral edema	ORPHA:3003
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Abnormal heart morphology, Hydronephrosis, Abdominal distention, Polyhydramnios	OMIM:619362
Oculopharyngodistal Myopathy 1	Bilateral ptosis, Tremor, Ptosis, Weight loss, Ataxia	OMIM:164310
Cutis Laxa, Autosomal Recessive, Type Ia	Cutis laxa, Redundant skin, Hyperextensible skin	OMIM:219100
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Weight loss, Failure to thrive, Aspiration pneumonia	ORPHA:2020
Wrinkly Skin Syndrome	Low-set ears, Failure to thrive, Downslanted palpebral fissures, Postnatal growth retardation, In...	ORPHA:2834
Microphthalmia, Syndromic 2	Aortic valve stenosis, Cryptorchidism, Laterally curved eyebrow, Decreased body weight, Sensorine...	OMIM:300166
Familial Gestational Hyperthyroidism	Weight loss, Hand tremor	ORPHA:99819
Autosomal Recessive Robinow Syndrome	Alopecia, Hypoplastic female external genitalia, Fingernail dysplasia, Long eyelashes, Cryptorchi...	ORPHA:1507
Nmda Receptor Encephalitis	Testicular teratoma, Diarrhea, Ovarian teratoma, Vomiting, Depression, Neoplasm of the thymus, Or...	ORPHA:217253
Mckusick-Kaufman Syndrome	Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Vaginal atresia, Rectovaginal fistul...	OMIM:236700
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Cryptorchidism, Abnormal size of the palpebral fissures	ORPHA:1101
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Short palpebral fissure, Failure to thrive, Low-set, posteriorly rotated e...	ORPHA:75857
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Omodysplasia 1	Axillary pterygium, Popliteal pterygium, Cryptorchidism, Epicanthus, Blepharophimosis, Narrow pal...	OMIM:258315
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair, Ovarian cyst	OMIM:311200
Coffin-Siris Syndrome 1	Low-set ears, Clitoral hypertrophy, Hearing impairment, Postnatal growth retardation, Cryptorchid...	OMIM:135900
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Low-set ears, Gastroesophageal reflux, Growth delay, Decreased testicular size, Cryptorchidism, S...	ORPHA:459070
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Cervix cancer, Posteriorly rotated ears, Hyperkeratosis, Multinodular goiter	OMIM:620189
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hearing impairment, Adrenal insufficiency, Ptosis, Achalasia, Dysphagia, Hyperkeratosis, Feeding ...	OMIM:615510
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Palpebral edema, Constipation	ORPHA:314647
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Gastroesophageal reflux, Left ventricular noncompaction, Slender build, Left ventricular noncompa...	OMIM:300967
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Gastroesophageal reflux, Aspiration pneumonia, Ineffective esophageal peristalsis, Chronic consti...	OMIM:619482
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d...	ORPHA:439
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hearing impairment, Lymphedema, Vertigo, Tinnitus, Cardiomegaly, Telangiectasia of the skin, Tela...	ORPHA:79280
Robinow Syndrome, Autosomal Dominant 1	Low-set ears, Narrow palate, Rhizomelia, Downslanted palpebral fissures, Long eyelashes, Cryptorc...	OMIM:180700
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ptosis, Cryptorchidism, Rectoperineal fistula	OMIM:618748
Amyloidosis, Finnish Type	Cutis laxa	OMIM:105120
Occipital Horn Syndrome	Bruising susceptibility, Ureteral obstruction, Redundant skin, Hyperextensible skin, Hiatus herni...	OMIM:304150
Interstitial Cystitis	Autoimmunity, Urinary bladder inflammation	ORPHA:37202
Atresia Of Urethra	Hydroureter, Megacystis, Ascites, Oligohydramnios, Renal insufficiency, Vesicoureteral reflux, Hy...	ORPHA:105
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Long eyelashes, Thick eyebrow, Curl...	ORPHA:1517
Bethlem Muscular Dystrophy	Hyperkeratosis, Elevated circulating creatine kinase concentration	ORPHA:610
Coffin-Lowry Syndrome	Highly arched eyebrow, Hearing impairment, Downslanted palpebral fissures, Telecanthus, Thick eye...	OMIM:303600
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the earlobes, Keratoconus, Periodontitis, Uterine rupture, Cryptorchidism, ...	ORPHA:286
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Hereditary Sensory And Autonomic Neuropathy Type 4	Aplasia of the sweat glands, Dry skin	ORPHA:642
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Bifid uvula, Small scrotum, Recurrent pneumonia, Eczematoid dermatitis, Telecanthus, Upslanted pa...	OMIM:620330
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Duplicated tragus, Conductive hearing impairment, Atresia of the ex...	OMIM:164210
Neurooculorenal Syndrome	Ectopic posterior pituitary, Highly arched eyebrow, Unilateral renal agenesis, Central hypothyroi...	OMIM:620305
Unilateral Polymicrogyria	Abnormal posturing, Pseudobulbar paralysis, Abnormal heart morphology, Nasogastric tube feeding, ...	ORPHA:268943
Mandibuloacral Dysplasia With Type A Lipodystrophy	Alopecia, Sparse scalp hair, Onychogryposis	OMIM:248370
Fetal Akinesia Deformation Sequence 1	Short palpebral fissure, Telecanthus, Cryptorchidism, Ptosis, Blepharophimosis, Stillbirth	OMIM:208150
Mosaic Trisomy 20	Hearing impairment, Horseshoe kidney, Intrauterine growth retardation, Upslanted palpebral fissur...	ORPHA:1724
Idiopathic Panuveitis	Red eye, Cataract, Posterior synechiae of the anterior chamber, Conjunctival hyperemia	ORPHA:280921
Pallister-Killian Syndrome	Aortic valve stenosis, Small scrotum, Low-set ears, Hearing impairment, Supernumerary nipple, Cry...	OMIM:601803
Thalidomide Embryopathy	Abnormality of the outer ear, Hearing impairment, Anotia, Chronic rhinitis, Short stature	ORPHA:3312
Smooth Muscle Dysfunction Syndrome	Cryptorchidism	OMIM:613834
Chromosome 13Q14 Deletion Syndrome	Micropenis, Epicanthus, Cryptorchidism, Supernumerary nipple	OMIM:613884
Familial Aortic Dissection	Cardiomegaly, Cutis marmorata	ORPHA:229
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ovotestis, Hypospadias, Sex reversal	OMIM:611812
Double Outlet Left Ventricle	Failure to thrive, Cryptorchidism, Cyanosis, Ventricular septal defect, Cardiomegaly, Pulmonary a...	ORPHA:3427
Cherubism	Submandibular lymph node enlargement, Lower eyelid retraction	OMIM:118400
Genitopatellar Syndrome	Small scrotum, Clitoral hypertrophy, Anal stenosis, Malrotation of small bowel, Multicystic kidne...	OMIM:606170
Acute Transverse Myelitis	Spasticity, Systemic lupus erythematosus, Paraplegia, Autoimmunity, Abscess, Abnormality of extra...	ORPHA:139417
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Bitot spots of the conjunctiva, Follicular hyperkeratosis	OMIM:277350
Loeys-Dietz Syndrome 2	Bifid uvula, Ectopia lentis, Striae distensae, Eosinophilic infiltration of the esophagus, Dermal...	OMIM:610168
Wrinkly Skin Syndrome	Downslanted palpebral fissures, Redundant skin, Cryptorchidism, Neonatal wrinkled skin of hands a...	OMIM:278250
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Cataract, Galactosuria, Organic aciduria, Downslanted palpebral fissures, Long ear...	ORPHA:85276
Absence Of The Pulmonary Artery	Recurrent pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Cyanosis, Patent foramen ova...	ORPHA:980
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets	OMIM:614473
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cataract, Highly arched eyebrow, Downslanted palpebral fissures, Aspiration pneumonia, Long eyela...	ORPHA:444077
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return	ORPHA:99104
Holoprosencephaly 9	Anterior pituitary agenesis, Prominent antihelix, Macrotia, Decreased response to growth hormone ...	OMIM:610829
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Gastroesophageal reflux, Volvulus, Intestinal malrotation, Encopresis, Crypto...	OMIM:616682
Phakomatosis Pigmentokeratotica	Precocious puberty, Patchy alopecia, Cryptorchidism	ORPHA:2874
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Ramon Syndrome	Hearing impairment, Enlarged labia minora, Angiokeratoma, Decreased body weight, Telangiectasia, ...	OMIM:266270
Ulbright-Hodes Syndrome	Abnormal penis morphology, Low-set ears, Clitoral hypertrophy, Renal hypoplasia, Respiratory dist...	ORPHA:3404
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven...	ORPHA:99125
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Cardiomegaly, Muscular edema, Dysphagia, Poll...	ORPHA:268
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Failure to thrive, Low-molecular-weight proteinuria, Corneal scarring, Stage 5 chr...	OMIM:309000
Lafora Disease	Spasticity, Hepatic failure, Myoclonus, Ataxia, Recurrent aspiration pneumonia, Erratic myoclonus	ORPHA:501
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias	OMIM:309801
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Glycine Encephalopathy	Lethargy, Poor suck	ORPHA:407
Familial Hypocalciuric Hypercalcemia	Autoimmunity, Pancreatitis	ORPHA:405
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Thin eyebrow, Cryptorchidism, Loss of eyelashes, Sparse hair	ORPHA:2636
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Increased nuchal translucency, Partial atrioventricular canal defe...	OMIM:620066
Adams-Oliver Syndrome 1	Imperforate hymen, Alopecia, Small nail, Supernumerary nipple	OMIM:100300
Omphalocele Syndrome, Shprintzen-Goldberg Type	Gastroesophageal reflux, Sparse lateral eyebrow, Downslanted palpebral fissures, Telecanthus, Fee...	ORPHA:3164
Danon Disease	Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr...	OMIM:300257
Cutis Laxa, Autosomal Recessive, Type Ib	Soft skin, Low-set ears, Downslanted palpebral fissures, Tricuspid regurgitation, Cutis laxa, Pul...	OMIM:614437
Penile Agenesis	Hydroureter, Bilateral renal hypoplasia, Anorectal anomaly, Unilateral renal hypoplasia, Cryptorc...	ORPHA:49
Oculocutaneous Albinism Type 1A	Thickened skin, Hyperkeratosis	ORPHA:79431
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:28378
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Small scrotum, Narrow palate, Disproportionate short stature, Long ear, Cryptorchid...	OMIM:276820
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Cataract, Failure to thrive, Obesity, Otitis media, Recurrent respiratory infections	ORPHA:353281
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bruising susceptibility, Cutis marmorata, Cardiomegaly, Bicuspid aortic valve, Pneumothorax	ORPHA:91387
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Dry skin	ORPHA:99646
Orofaciodigital Syndrome Xiv	Low-set ears, Anteriorly placed anus, Hamartoma of tongue, Telecanthus, Unilateral renal hypoplas...	OMIM:615948
Atrial Septal Defect, Ostium Secundum Type	Pneumonia	ORPHA:99103
Hyperferritinemia With Or Without Cataract	Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc...	OMIM:600886
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating copper concentration, Ptosis	ORPHA:521411
Primary Fanconi Renotubular Syndrome	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co...	ORPHA:3337
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Hypophosphatemic rickets, Renal artery stenosis, Dilated cardiomyopathy	OMIM:208000
Doors Syndrome	Cataract, Aspiration pneumonia, Bilateral ptosis, Myoclonus, Epicanthus, Thrombocytosis	ORPHA:79500
Pachyonychia Congenita 3	Palmoplantar keratoderma, Chapped lip, Follicular hyperkeratosis, Palmar hyperkeratosis, Plantar ...	OMIM:615726
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Pineoblastoma	Pinealoma, Lethargy	ORPHA:251909
Pmm2-Cdg	Cataract, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to t...	ORPHA:79318
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Hypocalciuria, Hypophosphaturia, Thick eyebrow, Hypoplastic sweat glands, Epicant...	ORPHA:73223
Focal Dermal Hypoplasia	Supernumerary nipple, Ridged nail, Absent toenail, Nail dystrophy, Cryptorchidism, Nail dysplasia...	OMIM:305600
Microphthalmia, Syndromic 1	High, narrow palate, Iris coloboma, Microcornea, Renal hypoplasia, Hydroureter, Low-set ears, Hea...	OMIM:309800
Meconium Ileus	Microcolon, Chronic diarrhea, Meconium ileus	OMIM:614665
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Foxp3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Foxp3.

No publications found that use IMPC mice or data for Foxp3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Foxp3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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