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Gene: Relb MGI:103289

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

avian reticuloendotheliosis viral (v-rel) oncogene related B

Synonyms:

shep

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 Relb 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 Relb (1 diseases)
Human diseases predicted to be associated with Relb (2511 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Immunodeficiency 53		Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585

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

Disease	Matching phenotypes	Source
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Epidermal acanthosis, Allergic rhi...	ORPHA:90368
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ...	ORPHA:436159
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg...	OMIM:619220
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ...	ORPHA:530838
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Sepsis, Decreased circulating IgG level, Hepatomegaly, Psoriasiform dermatiti...	OMIM:616100
Porokeratosis Plantaris Palmaris Et Disseminata	Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Generalized abnormal...	ORPHA:737
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node g...	ORPHA:277
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Ulerythema Ophryogenesis	Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat...	ORPHA:3406
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern...	ORPHA:79147
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ...	ORPHA:397596
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep...	ORPHA:87503
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars...	ORPHA:505
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm...	ORPHA:98813
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Diarrhea 13	Elevated hepatic transaminase, Secretory diarrhea, Hypoalbuminemia, Vomiting, Failure to thrive, ...	OMIM:620357
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Sepsis, Uveitis, Inflammation o...	OMIM:614700
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia...	OMIM:618986
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo...	OMIM:308240
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly,...	OMIM:209950
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Secretory diarrhea, Sepsis, Iron deficiency anemia, Tubulointerst...	ORPHA:37042
Atrophoderma Vermiculata	Pruritus, Heart block, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperk...	ORPHA:79100
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Rec...	OMIM:615285
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Allergic rhinitis, Pruritus, Neonatal asphyxia, Asthma, Dermatographic urti...	OMIM:608649
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Elevated circulating C-reactive protein concentration, Tachypn...	OMIM:615934
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi...	OMIM:618108
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis	ORPHA:735
Bathing Suit Ichthyosis	Parakeratosis, Alopecia, Epidermal acanthosis, Thickened skin, Erythroderma, Palmoplantar hyperke...	ORPHA:100976
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti...	OMIM:212050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi...	ORPHA:79124
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Acne, Recurrent sk...	OMIM:300635
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy...	OMIM:613953
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,...	OMIM:618394
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp...	OMIM:607903
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent herpes, Anorexia, Recurrent candida infections, Recurrent abscess formation, Otitis med...	ORPHA:169160
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Hyperkeratosis, Abnorm...	ORPHA:2584
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia...	OMIM:606367
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem...	ORPHA:346
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Feeding di...	OMIM:617241
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Increased circulating ferritin concentration, Recurrent upper respiratory tract inf...	OMIM:613101
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno...	OMIM:602450
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi...	OMIM:300853
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Inflammatory abnormality of the skin, Macrocyti...	ORPHA:398063
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B ...	ORPHA:3261
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Mucoid diarrhea, Increased circulating IgE level, Decreased pro...	OMIM:615767
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythroderma,...	OMIM:113800
Q Fever	Respiratory distress, Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cho...	ORPHA:781
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Edema, Hepatomegaly, Neutrophilia, Membranoproliferative glomerulonephriti...	OMIM:619644
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Chronic diarrhea, Atopic dermat...	OMIM:617638
Bazex Syndrome	Parakeratosis, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Na...	ORPHA:166113
Acrokeratosis Verruciformis	Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera...	OMIM:101900
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin	OMIM:146590
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circu...	ORPHA:37748
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, N...	OMIM:607594
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent viral infections, Increased circulating IgG level, Disseminated molluscum contagiosum, ...	OMIM:243700
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Flexio...	OMIM:617591
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Hype...	ORPHA:317
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral...	ORPHA:217390
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Galactose Mutarotase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Hypergalactosem...	ORPHA:570422
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat...	OMIM:616295
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser...	OMIM:231100
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia...	OMIM:617514
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Hemolytic anemia, Abscess, Perianal abscess, Hepatosplenomegaly, Lymphadenopathy, ...	OMIM:618935
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu...	ORPHA:183675
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N...	OMIM:212360
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Allergic rhinitis, Ecz...	OMIM:256500
Aquagenic Palmoplantar Keratoderma	Recurrent sinopulmonary infections, Excessive skin wrinkling on dorsum of hands and fingers, Atop...	ORPHA:498359
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent...	OMIM:240500
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc...	ORPHA:90158
Immunodeficiency 85 And Autoimmunity	Tube feeding, Lymphopenia, Villous atrophy, Recurrent respiratory infections, Eczema, Chronic dia...	OMIM:619510
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Dilated cardiomyopathy, Ventricular tachycardia, Leukonychia, ...	OMIM:615821
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c...	OMIM:619381
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Immunodeficiency 48	Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Ichthyosis With Confetti	Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbullous ichthyosif...	OMIM:609165
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthy...	OMIM:612281
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Alopecia, Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Congeni...	OMIM:242300
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Persistent CMV viremia, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiect...	OMIM:616005
Galactosemia I	Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, Di...	OMIM:230400
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k...	ORPHA:2897
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Erosive Pustular Dermatosis Of The Scalp	Pustule, Scarring alopecia of scalp, Erythema, Abnormal hair morphology	ORPHA:222
Aspergillosis	Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Meningitis, Chro...	ORPHA:1163
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I...	ORPHA:79503
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eos...	OMIM:618282
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Mixed Connective Tissue Disease	Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Meningitis, Hemolytic anemia, Hepatome...	ORPHA:809
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:214900
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho...	OMIM:603909
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand...	ORPHA:64745
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma,...	OMIM:613490
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali...	OMIM:133200
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis, Fragile skin	OMIM:615028
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio...	OMIM:615897
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla...	ORPHA:312
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Diarrhea, Cirrho...	ORPHA:75234
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Raynaud phe...	ORPHA:90280
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo...	OMIM:102700
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abdo...	ORPHA:2494
Anonychia With Flexural Pigmentation	Macular telangiectasia, Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular h...	ORPHA:69125
Felty Syndrome	Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal...	ORPHA:47612
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Scaling skin on fingertip, Epidermal acanthosis, Alopecia, Hypergranulosis, Honeyc...	ORPHA:79395
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemi...	ORPHA:171
Autosomal Erythropoietic Protoporphyria	Eczema, Microcytic anemia, Abnormal circulating porphyrin concentration, Decreased liver function...	ORPHA:79278
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino...	OMIM:618805
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Peeling Skin Syndrome 3	Pruritus, Erythema, Abnormal hair morphology, White scaling skin	OMIM:616265
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c...	ORPHA:69126
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi...	OMIM:619858
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, ...	OMIM:607602
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Graft Versus Host Disease	Skeletal muscle atrophy, Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepa...	ORPHA:39812
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Alopecia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis,...	OMIM:304790
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med...	ORPHA:572
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I...	OMIM:601859
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk...	ORPHA:443811
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Increased ci...	OMIM:618523
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbull...	OMIM:604777
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Dermatitis, Atopic	Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Asthma, Atopic dermatitis, Facial...	OMIM:603165
Cutaneous Mastocytoma	Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Thickened skin, Dyspnea, Erythema,...	ORPHA:79455
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec...	OMIM:147060
Enterokinase Deficiency	Diarrhea, Failure to thrive, Hypoproteinemia	OMIM:226200
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc...	OMIM:610163
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Boutonneuse Fever	Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Petechiae, Abdominal pain, Cer...	ORPHA:83313
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Pancytopenia, Elevated circulating creatinine concentration, Vom...	OMIM:617872
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Erythema, Crusting erythematous dermatitis, Palmoplan...	ORPHA:158673
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta...	ORPHA:158061
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Hypergranulosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma	OMIM:615022
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
X-Linked Agammaglobulinemia	Sinusitis, Abnormal lung morphology, Sepsis, Glossoptosis, Conjunctivitis, Neutropenia, Chronic o...	ORPHA:47
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Crackles, Mediastinal lymphadenopathy, Dyspnea, Usual interstitial...	OMIM:614742
Syndromic Diarrhea	Villous atrophy, Brittle hair, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of ...	ORPHA:84064
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,...	ORPHA:79319
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Cutis laxa, Absent pubic hair,...	ORPHA:2269
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema	ORPHA:83453
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin, Eczema, Hydr...	ORPHA:330058
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Palmoplantar keratoderma, Hypertrichosis	OMIM:617524
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi...	ORPHA:289390
Acral Peeling Skin Syndrome	Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin	ORPHA:263534
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Abdominal distention, Hyperlipide...	ORPHA:369
Patent Ductus Venosus	Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia	OMIM:601466
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Acantholysis, Pruritus,...	ORPHA:293173
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	ORPHA:90003
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Peeling Skin Syndrome 1	Brittle hair, Eosinophilia, Pruritus, Asthma, Onycholysis, Scaling skin, Nail dystrophy, Erythrod...	OMIM:270300
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Neutrophilia, Pustule,...	OMIM:614204
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ...	ORPHA:227990
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Decreased specific pneumococcal antibody level, G...	OMIM:613496
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Lamellar Ichthyosis	Recurrent respiratory infections, Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, ...	ORPHA:313
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Combined Oxidative Phosphorylation Deficiency 30	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:616974
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,...	ORPHA:79301
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella...	ORPHA:331235
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen...	ORPHA:36234
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Pediatric Systemic Lupus Erythematosus	Myositis, Leukopenia, Vomiting, Decreased circulating complement C4 concentration, Nephritis, Alo...	ORPHA:93552
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated hepatic transaminase, Increased serum pyruvate, Small for gestational age, Episodic vomi...	OMIM:615160
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep...	ORPHA:227982
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 18	Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu...	OMIM:615615
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ...	OMIM:243150
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo...	OMIM:619752
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Oste...	OMIM:606069
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Recurrent lower respiratory tract infections, Erythroderma	OMIM:136630
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Skin rash, Pancy...	OMIM:603553
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Cirrh...	OMIM:178500
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistax...	OMIM:612840
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Elevated circulating C-re...	OMIM:619573
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Skin rash, Cutis marmorata, Vasculitis, Erythema, Urticaria, Purpura	ORPHA:889
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ...	OMIM:300755
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pruritus, Pustule, Ulcerative ...	ORPHA:555905
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Cholangitis, Recurrent viral infections, Colitis, Neutropenia, Infectious enceph...	OMIM:209920
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte physiol...	ORPHA:99867
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili...	ORPHA:139402
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos...	ORPHA:331206
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Cr...	ORPHA:210136
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Glomerulopathy, Cachexia...	ORPHA:77297
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu...	OMIM:308800
Whipple Disease	Myositis, Anorexia, Myocardial infarction, Uveitis, Cough, Hypothyroidism, Infectious encephaliti...	ORPHA:3452
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	OMIM:617049
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera...	ORPHA:2722
Jessner Lymphocytic Infiltration Of The Skin	Pruritus, Cutaneous photosensitivity, Erythema, Abnormal lymphocyte morphology	ORPHA:33314
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex...	ORPHA:507
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hypothyroidi...	OMIM:615846
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ...	OMIM:613501
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Hyperconvex nail,...	ORPHA:495
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Recurrent urinary tr...	OMIM:618495
Dowling-Degos Disease 4	Pruritus, Epidermal acanthosis, Hypergranulosis	OMIM:615696
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Diarrhea, In...	OMIM:601847
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper...	ORPHA:247585
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Familial Mediterranean Fever	Elevated circulating C-reactive protein concentration, Vomiting, Meningitis, Hepatomegaly, Neutro...	OMIM:249100
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Abdomina...	OMIM:142680
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Nausea, Poor appetite, Jaundice, Fulminant hepatitis...	OMIM:618549
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn...	ORPHA:454831
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Feeding difficult...	OMIM:616050
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,...	OMIM:226990
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Decreased proportion of...	OMIM:619126
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ich...	OMIM:607936
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:614480
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi...	ORPHA:89838
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly...	OMIM:608184
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h...	OMIM:619208
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Diarrhea 7, Protein-Losing Enteropathy Type	Abdominal colic, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Hypercholesterolemia, Failu...	OMIM:615863
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can...	OMIM:242870
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Ectodermal dysplasia, Scaling skin...	OMIM:604536
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized l...	ORPHA:829
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ...	ORPHA:60026
Griscelli Syndrome, Type 2	Silver-gray hair, Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocytosis, Reduced d...	OMIM:607624
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa...	ORPHA:263501
Griscelli Syndrome	Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog...	ORPHA:381
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia...	OMIM:267500
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism	ORPHA:2297
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Pruritus, Thickened skin, Abnormality of the spleen, Wheezing, Darie...	ORPHA:79456
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis	OMIM:235900
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,...	ORPHA:2902
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt...	ORPHA:98849
Progressive Symmetric Erythrokeratodermia	Erythema, Palmoplantar keratoderma	ORPHA:316
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis	OMIM:271500
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis...	ORPHA:280779
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine aminotransferase concentra...	OMIM:613759
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d...	ORPHA:65682
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Abdominal pain, Diarrhea, Iron deficiency anemia, Hypoalbum...	OMIM:226300
Hermansky-Pudlak Syndrome 2	Albinism, Periodontitis, Gastroesophageal reflux, Recurrent abscess formation, Neutropenia, Hepat...	OMIM:608233
Immunodeficiency 23	Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG...	OMIM:615816
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Generalized hirsutism, Respiratory insufficiency	ORPHA:2812
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen...	ORPHA:2890
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir...	OMIM:251880
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Eczema, Cholelithiasis, Hepatic failure	OMIM:177000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Skin fragility with non-scarring blistering, Na...	ORPHA:79399
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa, Crusting erythematous dermatitis	ORPHA:79148
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Synophrys, Flexion contracture, Low anterior hairline, Sepsis, Leukopenia, ...	OMIM:617303
Prolidase Deficiency	Recurrent respiratory infections, Abnormal fingernail morphology, Pruritus, Splenomegaly, Crustin...	ORPHA:742
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat...	OMIM:612692
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis	OMIM:619549
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Mem...	OMIM:618999
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomegaly, Jaundice, ...	OMIM:619658
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Bronchitis, Knee ...	ORPHA:1304
Primary Erythromelalgia	Recurrent respiratory infections, Pruritus, Erythema, Vasculitis, Leukemia	ORPHA:90026
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha...	ORPHA:2394
Cystic Echinococcosis	Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Elevated gamma-glutam...	ORPHA:400
Immunodeficiency 58	Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ...	OMIM:618131
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarrhea, F...	OMIM:613489
Tularemia	Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Conjunctivitis, Otitis media, C...	ORPHA:3392
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Thrombocytopenia, Abdominal distention, Diarrhea, Elevated circulating creatinine c...	OMIM:608104
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Abdo...	ORPHA:567983
Omenn Syndrome	Alopecia, Pneumonia, Eosinophilia, Pruritus, Thickened skin, Leukocytosis, Splenomegaly, Thyroidi...	ORPHA:39041
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea,...	OMIM:612387
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C...	ORPHA:911
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Elevated circulating C-reactive protein concentration, Uveitis, Conjunctivit...	ORPHA:32960
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i...	ORPHA:90159
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se...	OMIM:602390
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem...	OMIM:612843
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Abnormal pleura morphology, Thickened skin, Urticaria, Arthritis, Lymphopenia	ORPHA:2582
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Facial palsy, Eosinophilia, Elevated circulating creatine kinase conc...	OMIM:253600
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula...	ORPHA:2688
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec...	OMIM:615122
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Diarrhea, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Vomiting...	OMIM:602579
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema	ORPHA:90160
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis, Cutaneous photosensitivity	ORPHA:1336
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lack of faci...	ORPHA:90156
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated g...	ORPHA:53035
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Abnormality of...	ORPHA:79394
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering...	ORPHA:158681
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Congestive heart failure, ...	OMIM:605676
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi...	OMIM:301045
Familial Cold Autoinflammatory Syndrome 3	Recurrent sinopulmonary infections, Allergic rhinitis, Pruritus, Asthma, Erythema, Angioedema, De...	OMIM:614468
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia	OMIM:227090
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Hypergranul...	OMIM:615508
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:615023
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:617093
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Cholestasis-Lymphedema Syndrome	Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pa...	ORPHA:1414
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Elevated circulating C-reactive protein co...	ORPHA:79126
Dengue Fever	Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Skin rash, Abdominal pain, Diarrh...	ORPHA:99828
Wiskott-Aldrich Syndrome	Recurrent herpes, Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Sepsis, I...	OMIM:301000
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Hepatospleno...	ORPHA:367
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Bronchitis, Abnormality of the spleen, Lymphadenitis,...	ORPHA:2552
Niemann-Pick Disease, Type B	Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom...	OMIM:607616
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Na...	OMIM:618806
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb...	OMIM:614470
Alg6-Cdg	Abnormal circulating enzyme concentration or activity, Jaundice, Decreased LDL cholesterol concen...	ORPHA:79320
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Cutaneous photosensitivity, V...	ORPHA:163525
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Immunodeficiency 56	Failure to thrive, Cholangitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Cirrhosis,...	OMIM:615207
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,...	OMIM:618278
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Lead Poisoning	Anorexia, Abnormal T cell morphology, Tubulointerstitial nephritis, Vomiting, Decreased male libi...	ORPHA:330015
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Poor...	ORPHA:319218
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato...	OMIM:158310
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Hypertension, ...	OMIM:616069
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Desquamative in...	OMIM:615952
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Xerostom...	ORPHA:85443
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato...	OMIM:617525
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties in infan...	OMIM:613070
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to...	OMIM:615438
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Asthma, Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma,...	OMIM:614457
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Dyspnea, Abnormality on pulmonar...	ORPHA:133
Sézary Syndrome	Alopecia, Abnormal pleura morphology, Pruritus, Splenomegaly, Palmoplantar keratoderma, Nail dyst...	ORPHA:3162
Ichthyosis, Congenital, Autosomal Recessive 8	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Alopecia, Dysgammaglobulinemia, Malabsorption,...	ORPHA:100025
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ...	ORPHA:3243
Netherton Syndrome	Sparse scalp hair, Recurrent respiratory infections, Skin rash, Eczema, Sparse eyelashes, Sparse ...	ORPHA:634
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre...	OMIM:619773
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Hepatomegaly, Recurrent respiratory infections, Recurrent skin infections, Recurrent...	OMIM:620210
Sjögren-Larsson Syndrome	Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye	ORPHA:816
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Hypoalbuminemia, Obesity	ORPHA:88643
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Facial erythema, Arthritis, Vasculit...	OMIM:620321
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Meningitis, Diarrhea, Recurrent opportunistic infections, T lymphoc...	OMIM:601457
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Abdominal pain, Chronic diarrhea, Functional abnormality of the gastrointest...	ORPHA:90362
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Decreased serum iron, Diarrhea, Chronic diarrhea, Chroni...	OMIM:614602
Amyloidosis, Familial Visceral	Hepatomegaly, Skin rash, Generalized amyloid deposition, Splenomegaly, Cholestasis, Hypertension	OMIM:105200
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Feeding difficulties in i...	OMIM:619013
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Fragile nails, Perioral erythema, Ichthyosis	OMIM:248300
Linear Atrophoderma Of Moulin	Pruritus, Scleroderma, Inflammatory abnormality of the skin	ORPHA:140933
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react...	OMIM:613011
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumo...	OMIM:242700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Elevated gamma-glutamylt...	ORPHA:247598
Autoimmune Hepatitis	Spider hemangioma, Fulminant hepatitis, Increased circulating IgG level, Inflammation of the larg...	ORPHA:2137
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ...	ORPHA:477
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Male hypogonadism, Hypothyroidism, Alopec...	OMIM:240300
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o...	OMIM:618459
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonar...	ORPHA:3260
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Osteoarthritis...	ORPHA:77259
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:26793
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Edema, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, ...	OMIM:603552
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Bronchitis, Recurrent viral infections,...	ORPHA:420741
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Epidermal acanthosis, Splenomegaly, Hypereosinophilia, Thyroiditis, ...	OMIM:617388
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser...	ORPHA:101028
Nephrotic Syndrome, Type 1	Small for gestational age, Abdominal distention, Hyperlipidemia, Gastroesophageal reflux, Hypoalb...	OMIM:256300
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa...	OMIM:617294
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:617099
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, ...	OMIM:613179
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Legionnaires Disease	Anorexia, Abnormal lung morphology, Sepsis, Cough, Infectious encephalitis, Abdominal pain, Recur...	ORPHA:549
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Lymphoproliferative Syndrome 3	Severe varicella zoster infection, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating ant...	OMIM:618261
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Hepatomegaly, Feeding difficulties in infancy, Decreased liver function	OMIM:614870
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, H...	OMIM:242100
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Small intestinal dysmotility, Cachexia, Poor appetite, Abdominal p...	ORPHA:298
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Premature graying of hair, Restrictive ventil...	OMIM:619767
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati...	OMIM:300988
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Gastrostomy tu...	OMIM:613385
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Feeding difficulties, Decr...	OMIM:246900
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy	OMIM:607685
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphy...	OMIM:181000
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abdominal pain, Leukocytosi...	ORPHA:67
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Pruritus, Hypereosinophilia, Leukemia, Histiocytosis	ORPHA:157991
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Skeletal muscle atrophy, Sparse eyelashes, Elevated circulating creatine ...	OMIM:615704
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Chronic Mucocutaneous Candidiasis	Recurrent respiratory infections, Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, ...	ORPHA:1334
Ichthyosis Vulgaris	Asthma, Absent keratohyalin granules, Dry skin, Ichthyosis, Eczematoid dermatitis	OMIM:146700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Increased circu...	OMIM:242860
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Allergic rhinitis, Pruritus, Erythrod...	ORPHA:330064
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Budd-Chiari Syndrome	Cirrhosis, Hepatocellular carcinoma	OMIM:600880
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hyperammonemia	ORPHA:664
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple...	ORPHA:30391
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Elevated circu...	ORPHA:90051
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Hyperbiliverdinemia	Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis	OMIM:614156
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tract infectio...	OMIM:614069
Wells Syndrome	Pruritus, Skin vesicle, Vasculitis, Eosinophilia	ORPHA:901
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Pruritu...	OMIM:607626
Igg4-Related Aortitis	Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Elevat...	ORPHA:449400
Immunodeficiency 43	Bronchiectasis, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbumine...	OMIM:241600
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux...	ORPHA:183
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,...	ORPHA:99931
Cholestasis, Progressive Familial Intrahepatic, 4	Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure	OMIM:615878
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Abdominal...	ORPHA:2070
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ...	ORPHA:131
Chylomicron Retention Disease	Diarrhea, Malnutrition, Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbumin...	OMIM:246700
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Combined Oxidative Phosphorylation Deficiency 46	Decreased liver function	OMIM:618952
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Incontinentia Pigmenti	Ridged nail, Uveitis, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Alopecia, Macu...	OMIM:308300
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Chronic di...	OMIM:619281
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, T lymphocytopenia, Hypoplasia of the thymus, Decreased ci...	OMIM:208900
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Jaundice, Neutr...	ORPHA:1667
Lupus Erythematosus Tumidus	Cutaneous photosensitivity, Deep dermal perivascular inflammatory infiltrate, Scaling skin	ORPHA:90283
Wolman Disease	Nausea and vomiting, Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Abdominal dist...	ORPHA:75233
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Increased...	ORPHA:824
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, D...	OMIM:307200
Zika Virus Disease	Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Meningitis, Increased circulating Ig...	ORPHA:448237
Aicardi-Goutieres Syndrome 5	Scaling skin, Dry skin, Chilblains, Thrombocytopenia	OMIM:612952
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Hyperhidrosis,...	ORPHA:99827
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Mitochondrial Dna Depletion Syndrome 17	Low plasma citrulline, Hepatic failure, Hyperammonemia	OMIM:618567
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Erythema, Septic arthritis	ORPHA:36237
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ...	OMIM:618165
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:618204
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig...	ORPHA:100024
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Harlequin Ichthyosis	Recurrent respiratory infections, Sudden cardiac death, Respiratory insufficiency, Hyperkeratosis...	ORPHA:457
Peroxisome Biogenesis Disorder 7B	Decreased liver function	OMIM:614873
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Dry skin, Scaling skin, Erythroderma	OMIM:609180
Myasthenia Gravis	Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, ...	ORPHA:589
Ige Responsiveness, Atopic	Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Maculopapular Cutaneous Mastocytosis	Pruritus, Dyspnea, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of ...	ORPHA:79457
Porphyria Cutanea Tarda, Type I	Hypertrichosis, Hepatic fibrosis, Eczema, Porphyrinuria	OMIM:176090
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis...	ORPHA:292
Immunodeficiency 42	Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy...	OMIM:616622
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea,...	ORPHA:33355
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Granuloma...	ORPHA:542592
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Conjugated hyperbilirubinemia...	OMIM:617156
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Decreased serum insulin-like growth factor 1, Eczema, Celiac disease, Increased circulating IgE l...	OMIM:618985
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha...	OMIM:300918
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Cutaneous photosensitivity, Skin fragility with non-scarring bl...	ORPHA:79397
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab...	ORPHA:103910
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis	OMIM:610227
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis	OMIM:114580
Superficial Epidermolytic Ichthyosis	Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis	ORPHA:455
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Onycho...	ORPHA:525
Lymphangiectasia, Intestinal	Lymphopenia, Stillbirth, Neonatal hypoproteinemia	OMIM:152800
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Ectodermal dysplasia, Palmoplantar k...	OMIM:224750
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Babesiosis	Nausea and vomiting, Hepatomegaly, Hemolytic anemia, Anorexia, Splenomegaly, Jaundice, Leukopenia...	ORPHA:108
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Hepatic failure, Cirrhosis, Portal hypertension	OMIM:210050
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton...	OMIM:613779
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Recurrent respiratory infections, Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal e...	ORPHA:2575
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ...	ORPHA:2199
Primary Biliary Cholangitis	Gastrointestinal inflammation, Abnormal intrahepatic bile duct morphology, Hypoalbuminemia, Hepat...	ORPHA:186
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Hepatic fibrosis, Cough, Sparse hair, Decreased circulating IgG level, ...	OMIM:620005
Immunodeficiency 92	Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremi...	OMIM:619652
Citrullinemia Type I	Hyperammonemia, Feeding difficulties, Vomiting, Gastroesophageal reflux, Hepatic failure, Elevate...	ORPHA:247525
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Jaundice, Hypoproteinemia	OMIM:608093
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d...	OMIM:619398
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Abnormal hair m...	ORPHA:2314
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin, Patchy alopecia, Reduced epidermal extracellular matrix protein 1...	OMIM:247100
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Skeletal muscle atrophy, Splenomegaly, Flexi...	OMIM:619183
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop...	ORPHA:169079
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Rec...	ORPHA:1572
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly...	OMIM:618987
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:42
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections, Edema, Abnormal hair morphology	ORPHA:345
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur...	ORPHA:567544
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Pleuritis, Malar rash, Ne...	OMIM:152700
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ...	OMIM:618969
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Eczem...	ORPHA:353298
Porphyria Cutanea Tarda	Reduced uroporphyrinogen decarboxylase activity, Cirrhosis, Hepatocellular carcinoma	OMIM:176100
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Respiratory insufficiency, Urticaria, Ichthyosis, Dry skin	ORPHA:1954
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection...	OMIM:616452
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Petechiae, Eczema, Elevated circulating aspartate aminotransf...	OMIM:170100
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ...	ORPHA:228123
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Elev...	OMIM:611182
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Thro...	OMIM:606003
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Alg1-Cdg	Chronic diarrhea, Hypoalbuminemia, Decreased liver function	ORPHA:79327
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp...	OMIM:616433
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Dystrophic fingernails, Thin nail, Sparse eye...	OMIM:257980
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating...	ORPHA:81
Cog2-Cdg	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De...	ORPHA:435934
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Premature graying of hair...	OMIM:127550
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach...	ORPHA:83469
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Elevated circulating creatine kinase concentration...	ORPHA:254361
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Asthma, Recurrent pneum...	OMIM:619750
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis, Muscular edema	ORPHA:3165
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop...	OMIM:616022
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Protein avoidance, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acu...	OMIM:238970
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia, Feeding difficulties	OMIM:614652
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Intracranial hemorrhage, In...	ORPHA:906
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Myocardial infarction, Abnormal lung morphology, Parapro...	ORPHA:91139
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia, Giant hypertrophic gastritis	OMIM:137280
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombo...	ORPHA:391487
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Vomiting, Gastroesophageal reflux, Cough, Hilar lymph node enlargement, Hepatomegaly, T...	OMIM:620233
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Mycosis Fungoides	Pruritus, Erythema, Psoriasiform dermatitis, Eczema	OMIM:254400
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Partial IgA deficiency, Recurrent viral infections, Acute otitis media, T lymphocytopenia, Decrea...	ORPHA:35078
Lassa Fever	Nausea and vomiting, Abnormal bleeding, Shock, Menometrorrhagia, Abdominal pain, Cough, Dyspnea, ...	ORPHA:99824
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Premature graying of hair, Bone marrow hypocellularity, Leukemia, ...	OMIM:614743
Immunodeficiency 22	Pericarditis, Abscess, Thrombocytopenia, Diarrhea, Recurrent upper respiratory tract infections, ...	OMIM:615758
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus...	OMIM:618213
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis	OMIM:617609
Ichthyosis-Prematurity Syndrome	Neonatal respiratory distress, Eosinophilia, Ichthyosis	ORPHA:88621
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Skin rash, Elevated circulating creatine kin...	ORPHA:206569
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ...	ORPHA:60033
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec...	OMIM:301074
Congenital Disorder Of Glycosylation, Type Ir	Chronic constipation, Failure to thrive, Gastroesophageal reflux, Decreased liver function	OMIM:614507
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin...	OMIM:600802
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Decreased liver function, Thrombocytopenia	ORPHA:67048
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Anorexia, Severe varicella zoster infectio...	ORPHA:48435
Behçet Disease	Myositis, Anorexia, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Meningiti...	ORPHA:117
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Asthma, Fine hair, Telangiectasia, Hyperkeratosis, Keratoconjunctivi...	OMIM:601675
Naxos Disease	Prolonged QRS complex, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebrow, Diffuse pa...	OMIM:601214
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Hypere...	OMIM:615387
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke...	ORPHA:158668
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Flexion contracture, Sepsis, Leukopenia, Hypoalbuminemia, Conjunctivitis, D...	ORPHA:505248
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Splenomegaly, Elevated tra...	ORPHA:766
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Lower limb muscle weakness, M...	ORPHA:209004
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Pruritus, Cardiorespiratory arrest, Urticaria, Erythroderma	ORPHA:280785
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail	ORPHA:254478
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near...	OMIM:614699
Immunodeficiency 19	Recurrent respiratory infections, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis...	OMIM:615617
Aicardi-Goutieres Syndrome 9	Edema, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Chilblain...	OMIM:619487
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Skin rash, Failure to thrive in infancy, Hepatomegaly	OMIM:619175
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dysmenorrhea, Hepato...	ORPHA:79240
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Lymphoid Interstitial Pneumonia	Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Raynaud phenomenon, Medi...	ORPHA:79128
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Pruritus, Abnormal capillary physiology, Erythema, Angioedema, Upper airway...	ORPHA:100057
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy, Pr...	OMIM:613989
Waldenström Macroglobulinemia	Normocytic anemia, Abnormality of neutrophils, Anorexia, Hepatomegaly, Vasculitis, Respiratory in...	ORPHA:33226
Cirrhosis, Familial	Abdominal distention, Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, I...	OMIM:215600
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D...	ORPHA:449395
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegal...	OMIM:612541
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Maculopapular exanth...	ORPHA:398124
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat...	OMIM:602400
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Abdominal pain, Splenomegaly, Increased circulating ...	OMIM:235200
Juvenile Temporal Arteritis	Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia	ORPHA:26137
Lymphatic Filariasis	Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Abnormal lung morphology, Knee os...	ORPHA:2035
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Orthostatic Hypotensive Disorder, Streeten Type	Orthostatic hypotension, Syncope, Bruising susceptibility, Facial erythema	OMIM:143850
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Squamous Cell Carcinoma Of The Esophagus	Nausea and vomiting, Feeding difficulties in infancy, Esophageal carcinoma, Lymphadenopathy, Cough	ORPHA:99977
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Biliary at...	ORPHA:565899
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect...	OMIM:615518
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c...	OMIM:614576
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Anemia, Decreased liver function, Elevated circulating creatine kinase concentration	OMIM:618835
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Anemia, Decreased liver function, Elevated circulating creatine kinase concentration	OMIM:618839
Gaucher Disease	Elevated circulating C-reactive protein concentration, Feeding difficulties in infancy, Osteoarth...	ORPHA:355
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Sepsis, Abnormal left ventricular...	OMIM:619991
Niemann-Pick Disease, Type A	Hepatomegaly, Recurrent respiratory infections, Skeletal muscle atrophy, Elevated circulating asp...	OMIM:257200
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia, Congenital alopecia totalis	ORPHA:169095
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr...	OMIM:616299
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Minimal change glomerulonephritis, Decreased proportion of...	ORPHA:1830
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis...	OMIM:618963
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Urticaria, Erythema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Sparse hair, Nail dystrophy, Recurre...	OMIM:618625
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Elevated circulating ...	OMIM:612852
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea...	OMIM:617341
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Scedosporiosis	Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Abnormal jejunum morphology, Unusua...	ORPHA:449280
Rift Valley Fever	Abnormal bleeding, Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Jaundice, Sev...	ORPHA:319251
Glycogen Storage Disease Iv	Portal hypertension, Hepatosplenomegaly, Cirrhosis, Hepatic failure, Failure to thrive	OMIM:232500
Indolent Systemic Mastocytosis	Hepatomegaly, Skin rash, Maculopapular exanthema, Pruritus, Splenomegaly, Lymphadenopathy, Increa...	ORPHA:98848
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Dry skin, Scaling skin	OMIM:105250
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypoplastic anemia, Hep...	OMIM:557000
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Angiostrongyliasis	Projectile vomiting, Poor appetite, Increased circulating IgA level, Abdominal pain, Hypereosinop...	ORPHA:74
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Alopecia, Eczema, Abdominal pain, Celiac diseas...	OMIM:212750
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Polymyositis	Elevated circulating creatine kinase concentration, Anorexia, Myocardial infarction, Gastroesopha...	ORPHA:732
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Increased circ...	OMIM:614034
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Pneumocystis jirovecii pneum...	OMIM:301078
Myeloma, Multiple	Amyloidosis, Paraproteinemia	OMIM:254500
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Poor wound healing, Sparse eyeb...	ORPHA:1010
Lipoid Proteinosis	Recurrent respiratory infections, Nasal polyposis, Acne, Pustule, Thickened skin, Hyperkeratosis,...	ORPHA:530
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ...	OMIM:619705
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abdominal distention, Hypocalcemia, Hepa...	OMIM:235255
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Failure to ...	OMIM:276700
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia	ORPHA:156
Idiopathic Pulmonary Fibrosis	Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesoph...	ORPHA:2032
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Urticaria, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis ...	ORPHA:2251
Melioidosis	Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung abscess...	ORPHA:31202
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Alopecia, Dry skin, Palmoplantar keratoderma, Scaling skin, Nail dys...	OMIM:618373
Aggressive Systemic Mastocytosis	Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis...	ORPHA:98850
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Cresc...	OMIM:616414
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Cholangitis, Retroperitoneal fibrosis, Abnormalit...	ORPHA:449432
Pemphigus Vulgaris	Urticaria, Recurrent cutaneous abscess formation, Acantholysis	ORPHA:704
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Aa Amyloidosis	Hepatomegaly, Malabsorption, Abdominal pain, Chronic diarrhea, Malnutrition, Cholestasis, Amyloid...	ORPHA:85445
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, ...	ORPHA:99745
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Vomiting	OMIM:616483
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo...	ORPHA:167
Incontinentia Pigmenti	Uveitis, Abnormal toenail morphology, Infectious encephalitis, Abnormality of the nail, Alopecia,...	ORPHA:464
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomega...	ORPHA:3226
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Severe viral infection, Decreased ci...	OMIM:616636
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Cachexia, Lymphedema, Splenomegaly, Aplasia/Hypoplasia of the eyebrow, Dy...	ORPHA:2930
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,...	OMIM:615468
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Blepharitis, Onychogryposis	OMIM:614328
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr...	ORPHA:79078
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Epidermal acanthosis, Angular cheilitis, Sparse eyelashes, Sparse axillary hai...	OMIM:613102
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma...	ORPHA:562639
Pulmonary Blastoma	Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough	ORPHA:64741
Acquired Purpura Fulminans	Thrombocytopenia, Hepatic failure, Skin rash, Elevated circulating C-reactive protein concentration	ORPHA:49566
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Widow's peak, Bronchiolitis, Periodontitis, Reduction of neutrophil moti...	OMIM:266265
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve...	OMIM:619374
Immunodeficiency 46	Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia,...	OMIM:616740
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Splenomegaly, Increased ci...	ORPHA:465508
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al...	OMIM:245480
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Atopic dermatitis, Nail pits, ...	ORPHA:79153
Farber Disease	Respiratory distress, Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulatin...	ORPHA:333
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula...	ORPHA:449563
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Generalized limb muscle atrophy, Hepatosplenomegaly, Hepatic fibrosis, Dis...	ORPHA:466794
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Hair-nail ectodermal dysplasia, Thin toenail, Sparse hair, Dystrophic toenail	OMIM:614928
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca...	ORPHA:294023
Complement Component 4B Deficiency	Decreased circulating complement C4b concentration, Chronic active hepatitis, Asthma, Chronic dia...	OMIM:614379
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l...	OMIM:208085
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Low plasma citrulline,...	OMIM:261680
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac...	ORPHA:51636
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr...	ORPHA:99901
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Cough, Dyspnea, Leukocytosis, Increased DLCO,...	ORPHA:90060
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia	OMIM:602079
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P...	ORPHA:731
Vibratory Urticaria	Urticaria, Flushing, Facial erythema	OMIM:125630
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abdominal distention, Hepatosplenomegaly...	ORPHA:1655
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy	ORPHA:89843
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kid...	ORPHA:54251
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Dermatitis Herpetiformis	Eczema, Microcytic anemia, Pruritus, Erythema, Urticaria, Skin vesicle	ORPHA:1656
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Abdominal pain, Circulating immune co...	ORPHA:91138
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Abnormal lun...	ORPHA:35173
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Eczem...	OMIM:617780
Bloom Syndrome	Recurrent herpes, Poor appetite, Bronchitis, Severe varicella zoster infection, Uveitis, Gastroes...	ORPHA:125
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Feeding difficulties, Hypoalbuminemia, Bile duct proliferation, Ma...	OMIM:618329
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi...	ORPHA:275761
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil...	OMIM:301068
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia	ORPHA:2574
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C...	ORPHA:900
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces...	OMIM:233710
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Rec...	ORPHA:101330
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Johanson-Blizzard Syndrome	Abnormality of the pancreas, Failure to thrive, Hypoproteinemia, Anemia, Exocrine pancreatic insu...	ORPHA:2315
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Erythema, Colitis	OMIM:219095
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Darier Disease	Acrokeratosis, Pruritus, Thickened skin, Abnormal hair morphology, Palmoplantar keratoderma, Skin...	ORPHA:218
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter...	OMIM:202700
Shigellosis	Anorexia, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctiv...	ORPHA:810
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Palmoplantar keratoderm...	OMIM:618535
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf...	ORPHA:2088
Hypocomplementemic Urticarial Vasculitis	Uveitis, Conjunctivitis, Cough, Emphysema, Meningitis, Hepatomegaly, Abdominal pain, Lymphadenopa...	ORPHA:36412
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb...	OMIM:277900
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In...	ORPHA:158048
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Dilated cardiom...	OMIM:610768
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces...	OMIM:233690
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa...	OMIM:129500
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pericarditis, Premature ovarian ins...	OMIM:212065
Combined Immunodeficiency-Enteropathy Spectrum	Bloody diarrhea, Hypoplasia of the thymus, Recurrent abscess formation, Sparse hair, Hashimoto th...	ORPHA:436252
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Bullous Pemphigoid	Urticaria, Erythema, Psoriasiform dermatitis, Eczema	ORPHA:703
Ataxia-Telangiectasia	Elevated hepatic transaminase, Recurrent respiratory infections, Hypopigmentation of hair, Diabet...	ORPHA:100
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno...	OMIM:259710
Trichohepatoenteric Syndrome 1	Villous atrophy, Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Intractable diarrh...	OMIM:222470
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Recurrent viral infections, Splenomegaly, ...	ORPHA:169090
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss, Arthritis, Infec...	ORPHA:42642
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest...	OMIM:615415
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Edema, Sparse eyebrow, Splenomegaly, Recurrent bronchopulmonar...	OMIM:604173
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Eosinophilia, Familial	Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Immunodeficiency 15B	Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurren...	OMIM:615592
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th...	OMIM:208540
Roifman Syndrome	Noncompaction cardiomyopathy, Eosinophilia, Eczema, Splenomegaly, Recurrent pneumonia, Prominent ...	OMIM:616651
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Dilated cardiomyopathy, Anemia, Panniculitis, Cystic acne, Small ...	OMIM:608068
Castleman Disease	Abnormality of the gastrointestinal tract, Nausea and vomiting, Increased circulating interleukin...	ORPHA:160
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Palmoplantar keratoderma, Aspiration pneumonia, Ichthyosis	OMIM:609528
Combined Oxidative Phosphorylation Deficiency 1	Fulminant hepatic failure, Hepatomegaly, Cholestasis, Feeding difficulties	OMIM:609060
Lethal Infantile Mitochondrial Myopathy	Fatal liver failure in infancy	ORPHA:254857
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Aceruloplasminemia	Refractory anemia, Abnormal circulating enzyme concentration or activity, Decreased circulating c...	ORPHA:48818
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Lymphadenitis, Decreased activity of NADPH oxidase, Granulomatosis, Cough, Hepatom...	OMIM:306400
Sydenham Chorea	Septic arthritis, Erythema, Endocarditis, Recurrent streptococcus pneumoniae infections	ORPHA:306731
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ...	OMIM:148700
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Microcytic anemia, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hypertrichosis	OMIM:612379
Variant Abeta2M Amyloidosis	Amyloidosis of peripheral nerves, Intestinal perforation, Cardiac amyloidosis, Abnormal skeletal ...	ORPHA:314652
Immunodeficiency 67	Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Dowling-Degos Disease	Abnormal fingernail morphology, Pruritus, Hyperkeratosis, Arthritis, Skin vesicle, Hyperkeratotic...	ORPHA:79145
Pulmonary Hemosiderosis	Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insu...	OMIM:178550
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Erythroderma, Ichthyosis	OMIM:618840
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Neonatal res...	ORPHA:221139
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Pruritus, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni...	OMIM:618116
Juvenile Dermatomyositis	Bundle branch block, Myositis, Cough, Alopecia, Vasculitis, Skin ulcer, Restrictive ventilatory d...	ORPHA:93672
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Distal amyotrophy, Monoclonal immunoglobulin M proteinemia	ORPHA:639
Systemic Lupus Erythematosus 17	Lymphopenia, Alopecia, Hypertensive crisis, Autoimmune thrombocytopenia, Raynaud phenomenon, Thro...	OMIM:301080
Chediak-Higashi Syndrome	Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Foot dorsiflexor weakness, Imp...	OMIM:214500
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl...	OMIM:614372
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated hepatic transaminase, Elevated circulating dodecanoylcarnitine concentration, Increased ...	OMIM:619355
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Elevated circulating cre...	OMIM:610377
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Increased circulating interleukin 6 concentration, Elevated circulating ...	OMIM:256040
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Ectoderm...	OMIM:613573
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Neoplasm of the l...	ORPHA:659
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Gas...	ORPHA:727
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hyperkeratosis, Keratoconjunctiviti...	ORPHA:238468
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia...	ORPHA:228426
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79239
Vici Syndrome	Elevated circulating creatine kinase concentration, Albinism, Recurrent viral infections, Leukope...	OMIM:242840
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating Ig...	ORPHA:508533
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Noonan Syndrome 8	Curly hair, Eczema, Patent ductus arteriosus, Hyperkeratosis, Mitral regurgitation, Hypertrophic ...	OMIM:615355
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff...	ORPHA:2924
Follicular Lymphoma	Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno...	ORPHA:545
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis	ORPHA:79099
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Gastroesophageal reflux, Decreased liver f...	ORPHA:70472
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Weig...	ORPHA:391
Familial Cold Urticaria	Pruritus, Erythema, Urticaria, Arthritis, Conjunctivitis	ORPHA:47045
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt...	ORPHA:811
Yellow Fever	Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra...	ORPHA:99829
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Respi...	ORPHA:2686
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Hepatic fibrosis, Nephr...	OMIM:615630
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Hyperalaninemia	ORPHA:254881
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Primary Hepatic Neuroendocrine Carcinoma	Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve...	ORPHA:100085
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Dermatofibrosarcoma Protuberans	Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,...	ORPHA:439232
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ...	ORPHA:656
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu...	OMIM:615214
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ectodermal dysplasia, Palmoplantar keratoderma, Facial telangiectasia, Sparse hair, Apl...	ORPHA:50944
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Immunodeficiency 88	Asthma, Eosinophilia	OMIM:619630
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Splenomegaly, Leukocyto...	OMIM:260920
Immunodeficiency 31C	Skeletal muscle atrophy, Villous atrophy, Protein-losing enteropathy, Cough, Disseminated histopl...	OMIM:614162
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Patent ductus arteriosus, Erythema, Palmoplantar hyperkera...	OMIM:259100
Immunodeficiency 9	Respiratory insufficiency due to muscle weakness, Chronic diarrhea, BCGitis, Recurrent infections...	OMIM:612782
Citrullinemia, Classic	Hepatomegaly, Protein avoidance, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication...	OMIM:215700
Atransferrinemia	Abnormality of the liver, Hypochromic anemia, Atransferrinemia	OMIM:209300
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Bone-marrow foam cells, Fetal ascites, Low cholester...	OMIM:607625
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne...	OMIM:614868
Schimke Immunoosseous Dysplasia	Pancytopenia, Transient ischemic attack, Abnormal immunoglobulin level, Bilateral cryptorchidism,...	OMIM:242900
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Pulmonary embolism, Respiratory tra...	ORPHA:567548
Acral Self-Healing Collodion Baby	Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Feeding difficulties, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatrem...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Feeding difficulties, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatrem...	ORPHA:529799
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Leukopenia, Vomiting, Hepa...	ORPHA:470
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Elevated circulating long chain fatty acid concentration, Hyperbil...	OMIM:614886
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor...	ORPHA:494
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot...	OMIM:616941
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ...	OMIM:615422
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Chronic diarrhea, Recurrent p...	OMIM:601495
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Tegumentary leishmaniasis susceptibility, Lymphadenitis, Recurrent mycobacterial infec...	ORPHA:319552
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Cirrhosis	ORPHA:363400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level	OMIM:616911
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Tick-Borne Encephalitis	Elevated hepatic transaminase, Skeletal muscle atrophy, Facial palsy, Elevated circulating C-reac...	ORPHA:297
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Cirrhosis, Hypercholesterolemia, Failure to thrive, Hepatic s...	ORPHA:528
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Esophageal stricture, Hepatic...	OMIM:224230
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Patent ductus arteriosus, Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Senior-Loken Syndrome 9	Obesity, Cholestasis, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hepatic fibro...	OMIM:616629
Eosinophilopenia	Decreased eosinophil count, Urticaria, Allergic rhinitis	OMIM:131430
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ...	OMIM:256810
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp	OMIM:136300
Specific Granule Deficiency 2	Absent neutrophil specific granules, Recurrent pneumonia, Hirsutism, Sepsis, Anemia, Recurrent ba...	OMIM:617475
Keratosis Pilaris Atrophicans	Absent eyelashes, Erythema, Sparse eyebrow	OMIM:604093
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Flexion contracture, Gastroesophageal reflux, Muscle fiber atrophy, Aspiration, Hypoven...	ORPHA:258
Immunodeficiency 54	Recurrent respiratory infections, Hepatomegaly, Failure to thrive, Splenomegaly, Respiratory insu...	OMIM:609981
Overlap Myositis	Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Diabetes mellitus, Elevat...	ORPHA:206572
Angioma Serpiginosum	Erythema, Vascular skin abnormality	ORPHA:95429
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Nausea and vomiting, Abnormal bleeding, Torticollis, Metrorrhagia, Elev...	ORPHA:370348
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke...	ORPHA:79151
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Protein avoidance, Hepatitis, Hyp...	ORPHA:415
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Anemia	OMIM:607115
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Peroxisome Biogenesis Disorder 5B	Elevated circulating phytanic acid concentration, Decreased liver function	OMIM:614867
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Recurrent respiratory infections, Respiratory insufficiency, Hepatomegaly	ORPHA:139406
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Immunodeficiency 37	Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent...	OMIM:616098
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nausea, ...	ORPHA:85450
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Diabetes mellitus, Multiple joint contractures, Chilblai...	ORPHA:51
Alveolar Echinococcosis	Liver abscess, Cholangitis, Vomiting, Cough, Portal hypertension, Abdominal pain, Abnormal mesent...	ORPHA:284
Sarcoidosis	Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Uveitis, ...	ORPHA:797
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Congenital Pancreatic Cyst	Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis	ORPHA:313906
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Elevated circulating creatine kinase concentration, Dysphagia, Hepatic failure, Epi...	OMIM:607426
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Feeding difficulties, Decreased s...	ORPHA:541423
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Alopecia, Aplastic anemia, Cryptorchidism, Fine hair, Premature graying of hair, Le...	OMIM:613990
Heparin-Induced Thrombocytopenia	Increased inflammatory response, Myocardial infarction, Pulmonary embolism, Autoimmune thrombocyt...	ORPHA:3325
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria	ORPHA:79238
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s...	OMIM:617337
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
Immunodeficiency, Common Variable, 10	Recurrent oral herpes, Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Alopecia to...	OMIM:615577
Adenocarcinoma Of The Esophagus	Nausea and vomiting, Barrett esophagus, Feeding difficulties in infancy, Esophageal carcinoma, Ly...	ORPHA:99976
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re...	OMIM:615139
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Hy...	ORPHA:159
Acute Lung Injury	Respiratory distress, Shock, Increased circulating interleukin 6 concentration, Acute pancreatiti...	ORPHA:178320
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Chilblains, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Recon Progeroid Syndrome	Progeroid facial appearance, Thrombocytopenia, Hyperconvex thumb nails, Livedo reticularis, Absen...	OMIM:620370
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Ectodermal dysplasia, Scaling skin, Periungual erythema, Atrichia, Dystr...	OMIM:308205
Idiopathic Achalasia	Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia	ORPHA:930
Burkitt Lymphoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma...	ORPHA:543
Osteootohepatoenteric Syndrome	Proteinuria, Pruritus, Microvesicular hepatic steatosis, Asthma, Grade II vesicoureteral reflux, ...	OMIM:619377
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Splenomegaly, Esophage...	ORPHA:2072
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br...	OMIM:608957
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers...	ORPHA:1008
Kaposi Sarcoma	Generalized lymphadenopathy, Skin rash, Lymphedema, Abnormality of the spleen, Abnormal lung morp...	ORPHA:33276
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrop...	OMIM:615225
Ectodermal Dysplasia-Syndactyly Syndrome 2	Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ich...	OMIM:613576
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Pancreatic insufficiency, combined exocrine	Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Anorexia, Leu...	ORPHA:50918
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ...	OMIM:604367
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:232400
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Genetic Recurrent Myoglobinuria	Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Myositis, Type 2 muscle f...	ORPHA:99845
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Focal Myositis	Myositis, Elevated circulating creatine kinase concentration	ORPHA:48918
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Hepatitis, Palmoplantar hyperkeratosis, Sparse lateral eyebrow	ORPHA:363523
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Cinca Syndrome	Nausea and vomiting, Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive pr...	ORPHA:1451
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Pruritus, Jaundic...	OMIM:613404
Darier-White Disease	Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments	OMIM:124200
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Chronic diarrhea, Recurrent pneumonia, Bronchi...	OMIM:301220
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Failure to ...	ORPHA:14
Peroxisome Biogenesis Disorder 8B	Elevated circulating phytanic acid concentration, Constipation, Decreased liver function, Dysphag...	OMIM:614877
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,...	OMIM:617765
Japanese Encephalitis	Respiratory distress, Skeletal muscle atrophy, Neutrophilia, Pulmonary edema, Facial palsy, Anore...	ORPHA:79139
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Macroscopic hematuri...	ORPHA:93126
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Failure to thrive, Decreased liver function	OMIM:614883
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Hepatic failure, Dysphagia	ORPHA:2724
Polyarteritis Nodosa	Pericarditis, Cutis marmorata, Raynaud phenomenon, Abnormal lung morphology, Erythema, Skin ulcer...	ORPHA:767
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Nausea and vomiting, Anorexia, Poor appetite, Bowel ...	ORPHA:100075
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inf...	ORPHA:83617
Sandhoff Disease	Splenomegaly, Failure to thrive, Recurrent respiratory infections, Hepatomegaly	ORPHA:796
Immunodeficiency 96	Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Recurrent infec...	OMIM:619774
Immunodeficiency 108 With Autoinflammation	Epistaxis, Abdominal pain, Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, ...	OMIM:260570
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Cryptorchidism, Increased circulating IgE level, Hypogonadism, Flexion c...	ORPHA:3409
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Hypertension, I...	ORPHA:280356
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Bronchial Neuroendocrine Tumor	Anorexia, Poor appetite, Nonproductive cough, Hepatomegaly, Tricuspid regurgitation, Chronic noni...	ORPHA:97287
Singleton-Merten Syndrome 2	Hyperkeratosis, Arrhythmia, Psoriasiform lesion, Aortic valve stenosis	OMIM:616298
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Hypoalbuminemia, High palate, Vomiting, Cough, Gastroesophageal reflux, Emphysema, Hep...	OMIM:613658
Primary Ciliary Dyskinesia	Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility, Neonatal respiratory d...	ORPHA:244
Mirage Syndrome	Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Petechiae, Adrenal hypoplasia...	OMIM:617053
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce...	ORPHA:3202
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple...	OMIM:216360
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Ichthyosis	ORPHA:461
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Premature graying of hair, Anemia, Nail dystrophy, Pulmonary...	OMIM:620365
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Aredyld Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Abnormality of the ureter, Sparse body hair, Aplasia/Hypopl...	ORPHA:1133
Vitamin B12-Responsive Methylmalonic Acidemia	Nausea and vomiting, Hepatomegaly, Hyperammonemia, Failure to thrive, Anemia	ORPHA:28
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Cheilitis, Ski...	ORPHA:37
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial n...	ORPHA:57777
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Abdominal dis...	OMIM:619423
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Dyspnea...	ORPHA:75566
Adult-Onset Nemaline Myopathy	Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Paraproteinemia, Neurom...	ORPHA:171442
Mogs-Cdg	Respiratory distress, Apnea, Cardiomegaly, High palate, Decreased circulating IgG level, Hypothyr...	ORPHA:79330
Letterer-Siwe Disease	Seborrheic dermatitis, Abdominal distention, Jaundice, Dyspnea, Hepatosplenomegaly, Anemia, Neutr...	OMIM:246400
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Abnormal localization of kidney, Prolonged neonatal jaundice	ORPHA:446
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp...	ORPHA:2200
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hyperammonemia, Vomiting, Failure to thrive	OMIM:615453
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas...	ORPHA:90291
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Congenital Disorder Of Glycosylation, Type It	Elevated circulating creatine kinase concentration, Cardiomegaly, Vomiting, Hepatic steatosis, Bi...	OMIM:614921
Mpdu1-Cdg	Scaling skin, Eczema, Ichthyosis	ORPHA:79323
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Decreased liver function	ORPHA:512260
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Absent eyebrow, Renal insufficiency, Membranoproliferative ...	OMIM:137940
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Hepatic failure	ORPHA:3196
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosi...	ORPHA:38
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki...	ORPHA:26791
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c...	OMIM:619693
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce...	OMIM:615234
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Pruritu...	OMIM:620010
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Limited Cutaneous Systemic Sclerosis	Nausea and vomiting, Telangiectasia of the skin, Foot joint contracture, Gastroesophageal reflux,...	ORPHA:220402
Cole Disease	Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:615522
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula...	OMIM:619418
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Basan Syndrome	Ectodermal dysplasia, Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy	OMIM:129200
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Feeding difficulties, Recurrent infections, Gastroesophageal reflux, ...	ORPHA:251009
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Angioedema, Erythema, Intracran...	ORPHA:449285
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Eczema, Pustule, Erythema, Palmoplantar hyperkeratosis, Keratoconjunc...	ORPHA:2907
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Apneic episodes in infancy, Portal fi...	OMIM:619111
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Joint swe...	ORPHA:85414
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Reduced level of N-ac...	OMIM:224120
Acute Promyelocytic Leukemia	Anorexia, Leukopenia, Neutropenia, Ecchymosis, Abnormal bleeding, Abdominal pain, Chronic infecti...	ORPHA:520
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Splenomegaly, Leukocytosi...	OMIM:259720
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Vomiting, Gastroesophageal reflux, Elevated gamma-glutamyltransferase level, H...	OMIM:619525
Thrombocytopenia 1	Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me...	OMIM:313900
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Hereditary Fructose Intolerance	Hepatomegaly, Reduced circulating aldolase concentration, Nausea, Abdominal pain, Abdominal diste...	ORPHA:469
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C...	ORPHA:160148
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Minimal change glomerulonephritis	OMIM:614196
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Leukocytosis, Sepsis, Recu...	ORPHA:764
Acrocephalopolydactyly	Protuberant abdomen, Hepatosplenomegaly	ORPHA:221054
Maternal Uniparental Disomy Of Chromosome X	Hepatic failure	ORPHA:261519
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Tachypnea,...	OMIM:610978
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228308
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase a...	OMIM:230350
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary in...	ORPHA:77261
Immunoglobulin A Vasculitis	Episcleritis, Gastrointestinal hemorrhage, Skin rash, Orchitis, Pustule, Angioedema, Erythema, Va...	ORPHA:761
Neonatal Alloimmune Neutropenia	Pneumonia, Maternal diabetes, Severe infection, Jaundice, Neutropenia in presence of anti-neutrop...	ORPHA:464370
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice...	ORPHA:858
Dermatomyositis	Abnormal eosinophil morphology, Myocardial infarction, Acrocyanosis, Abnormality of the nail, Vas...	ORPHA:221
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia, Respiratory insufficiency	ORPHA:93941
Erythema Of Acral Regions	Erythema	OMIM:227000
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD...	OMIM:615607
Fixed Drug Eruption	Stomatitis, Erythema, Crusting erythematous dermatitis, Generalized abnormality of skin	ORPHA:293812
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Anorexia, Sepsis, Hashimoto thyroiditis,...	ORPHA:199299
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Abnormal pleura morphology, Lymphedema, Splenomegaly, Hepatitis...	ORPHA:584
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Hypoalbuminemia, Vomiting, Constrictive pericarditis, Abdominal colic, Intes...	ORPHA:90363
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Fine hair, Anemia, Premature graying of hair, Intestinal bleeding, Bone m...	OMIM:612199
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,...	ORPHA:36238
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Premature graying ...	OMIM:616371
Keratolytic Winter Erythema	Erythema	OMIM:148370
Kawasaki Disease	Pericarditis, Abnormality of nail color, Skin rash, Proteinuria, Edema, Myocarditis, Leukocytosis...	ORPHA:2331
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
C1Q Deficiency 1	Membranoproliferative glomerulonephritis	OMIM:613652
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Increased circulating lacta...	ORPHA:232
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa...	ORPHA:79083
Systemic Lupus Erythematosus 16	Lupus nephritis	OMIM:614420
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Asthma, Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level	OMIM:618092
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve...	ORPHA:343
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Recurrent skin infections, Decreased serum iron, Malnutrition, Dysphagia, Feed...	ORPHA:89842
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Mastocytosis, Pruritus, Thickened skin, Erythema, Respirat...	ORPHA:2135
Necrotizing Enterocolitis	Shock, Neonatal sepsis, Apnea, Abdominal distention, Leukocytosis, Peritonitis, Diarrhea, Bloody ...	ORPHA:391673
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec...	OMIM:614493
Cortisone Reductase Deficiency 1	Alopecia, Acne, Hirsutism	OMIM:604931
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C...	ORPHA:1164
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Cough, Splenomegaly, Feeding difficulties, Anemia, Stridor, Gastroesophageal...	OMIM:230900
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Leptospirosis	Respiratory distress, Anorexia, First degree atrioventricular block, Uveitis, Cough, Meningitis, ...	ORPHA:509
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Vomiting, Decreased liver function	OMIM:602199
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Renal hypoplasia, Stage 5 ch...	OMIM:614376
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Diarrhea, Cardiomyopathy, Impotence, Amyloidosis, Constipation, Episodic vomiting, ...	OMIM:105210
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Impaired myocardial contractility, Absent toenail...	ORPHA:158687
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Odynophagia, U...	ORPHA:99826
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Alopecia, Decreased helper T cell proportion, Nail dystrophy	OMIM:601705
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Hair-nail ectodermal dysplasia, Absent eyelashes, Onychol...	OMIM:602032
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia, Secretory diarrhea, Acne, Seborrheic dermatitis	OMIM:614441
Chilblain Lupus 1	Raynaud phenomenon, Abnormality of the nail, Chilblains, Skin ulcer	OMIM:610448
Erdheim-Chester Disease	Nausea and vomiting, Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Abdominal pain, Ret...	ORPHA:35687
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Hydrocele testis, Recurrent inf...	OMIM:605309
Ifap Syndrome 2	Ichthyosis follicularis, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctiviti...	OMIM:619016
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Alopecia totalis, Abnormality of the nail	OMIM:302000
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Ramon Syndrome	Hyperkeratosis, Telangiectasia of the skin, Generalized hirsutism	ORPHA:3019
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Thickened skin, Hepatic fibrosis, Pulmonary hypoplasia, Extrap...	OMIM:200995
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Renal insufficiency, Splenomegaly, Dehydration, Anemia, Neutr...	ORPHA:79312
Porphyria Due To Ala Dehydratase Deficiency	Abnormal circulating enzyme concentration or activity, Increased fecal coproporphyrin 3, Ankle fl...	ORPHA:100924
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C...	OMIM:615206
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Diffuse Cutaneous Systemic Sclerosis	Nausea and vomiting, Dyspareunia, Hypertensive crisis, Telangiectasia of the skin, Malabsorption,...	ORPHA:220393
Juvenile Polyposis Syndrome	Abdominal pain, Diarrhea, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia	OMIM:174900
Dyskeratosis Congenita, X-Linked	Hyperhidrosis, Premature graying of hair, Leukopenia, Conjunctivitis, Alopecia, Cryptorchidism, R...	OMIM:305000
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i...	OMIM:230800
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic h...	OMIM:269200
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Leukopenia, Monocytosis, Bone marrow h...	OMIM:616871
Pachyonychia Congenita	Respiratory distress, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear...	ORPHA:2309
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Cryptorchidism, Jaundice, Cleft palate, Hyp...	OMIM:214110
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Gamma-Heavy Chain Disease	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Skin rash, Autoimmun...	ORPHA:100026
Mccune-Albright Syndrome	Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert...	ORPHA:562
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Subcorneal Pustular Dermatosis	Pruritus, Erythema, Pustule, Rheumatoid arthritis	ORPHA:48377
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia	OMIM:611126
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno...	ORPHA:129
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Alopecia, Fine hair, Hyperkeratosis, Pulmonary fibrosis, Sparse...	ORPHA:1839
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre...	OMIM:619445
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
Hermansky-Pudlak Syndrome 4	Abnormal bleeding, Absent platelet dense granules, Epistaxis, Albinism, Restrictive ventilatory d...	OMIM:614073
Trehalase Deficiency	Abnormal circulating enzyme concentration or activity, Abdominal pain, Malabsorption, Abdominal d...	ORPHA:103909
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Low anterior hairline, Decreased circulating ...	OMIM:248500
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elb...	OMIM:604416
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Respiratory insufficiency, Arthritis, Joint swelling, Lipogranulomato...	OMIM:228000
Malaria	Nausea and vomiting, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyp...	ORPHA:673
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Benign Chronic Pemphigus	Erythema	OMIM:169600
Annular Erythema	Erythema	OMIM:106500
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Nausea, Abdominal pain,...	OMIM:229600
Digeorge Syndrome	Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology...	OMIM:188400
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge...	ORPHA:60025
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Edema, Minimal change glomerulonephritis, Stage...	OMIM:618348
Complement Component 7 Deficiency	Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men...	OMIM:610102
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Erythema, Arthritis, Patchy al...	OMIM:109650
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Proteus Syndrome	Splenomegaly, Hyperkeratosis, Epidermal acanthosis	OMIM:176920
Hereditary Folate Malabsorption	Nausea and vomiting, Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infe...	ORPHA:90045
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomegaly, Abnorma...	ORPHA:1046
Atelis Syndrome 1	Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Bronchiectasis, Feeding diffi...	OMIM:620184
Pachydermoperiostosis	Abnormal hair quantity, Gastrointestinal hemorrhage, Osteomyelitis, Acne, Abnormal fingernail mor...	ORPHA:2796
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia, Abnormality of iron homeostasis	ORPHA:75563
Mednik Syndrome	Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Increased circulating very long-chain fatty a...	OMIM:609313
Leopard Syndrome 3	Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Webbed neck, Dry skin	OMIM:613707
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C...	ORPHA:340
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Aicardi-Goutieres Syndrome 1	Petechiae, Chilblains, Splenomegaly, Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jau...	OMIM:225750
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Asthma, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia	OMIM:616029
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Exercise-induced rhabdomyolysis, Elevated circulating cr...	OMIM:201475
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, C...	ORPHA:79230
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, ...	ORPHA:536
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Recurrent respiratory infections, Abnormality of neutrophils, Acanth...	ORPHA:36426
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Bone marrow hypocellularity, Pulmonary fibrosis	OMIM:618674
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Abn...	ORPHA:2204
Immunodeficiency 27B	Generalized lymphadenopathy, Salmonella osteomyelitis, Osteomyelitis	OMIM:615978
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Lymphatic Malformation 4	Hyperkeratosis, Prominent superficial veins, Toenail dysplasia	OMIM:615907
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Dyspnea, Abdominal distention, Elevated circulating alkaline phosphatas...	OMIM:174050
Cyanosis, Transient Neonatal	Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Abdominal pain, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic...	OMIM:603903
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Isolated Sedoheptulokinase Deficiency	Diastasis recti, Portal hypertension, Neonatal asphyxia, Flexion contracture, Hepatitis, Cholesta...	ORPHA:440713
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Gastrointestinal hemorrhage, Abnormal ple...	ORPHA:537
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy, Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1366
Late-Onset Junctional Epidermolysis Bullosa	Hyperhidrosis, Nail dystrophy, Anemia, Gastrointestinal inflammation	ORPHA:79406
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal circulating enzyme concentration or activity, Lower limb muscle weakness, Respiratory in...	ORPHA:2590
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Bruising susceptibility, Arterial rupture, Follicular hyperkeratosis	ORPHA:300179
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Decreased liver function, Hepatic cysts	OMIM:600666
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Reynolds Syndrome	Hepatomegaly, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Gastroesophageal reflux...	ORPHA:779
Sea-Blue Histiocytosis	Hepatomegaly, Edema, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharit...	ORPHA:158029
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Deep dermal perivascular inflammatory infiltrate, Psorias...	ORPHA:49041
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Abnormal renal tubule morphology, Rhinorrhea, Myocarditis, Leu...	ORPHA:188
Cystic Hamartoma Of Lung And Kidney	Hypertension, Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis	ORPHA:2111
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Fa...	OMIM:251290
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Fair hair, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, H...	OMIM:269920
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Cryptorchidism, Tachypnea, Feeding difficulties, Normochr...	OMIM:614857
Rhabdoid Tumor	Nausea and vomiting, Poor appetite, Abdominal pain, Respiratory insufficiency, Lymphadenopathy, A...	ORPHA:69077
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Hyperkeratosis, Coarse hair, Sparse hair, Hidrotic ectodermal dysplasia	ORPHA:1883
Junctional Epidermolysis Bullosa Inversa	Nail dystrophy, Anemia, Gastrointestinal inflammation	ORPHA:79405
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Fetal ascites, Feeding diffic...	OMIM:261515
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor...	ORPHA:1855
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Cough, Absent outer dynein arms, Bronchiectasis, Decrea...	OMIM:612444
Laurence-Moon Syndrome	Hypoplasia of penis, Renal insufficiency, Congenital hepatic fibrosis, Cryptorchidism, Obesity, D...	ORPHA:2377
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis...	OMIM:616373
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt...	ORPHA:699
Argininemia	Hepatomegaly, Anorexia, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Portal fibrosis, Hyp...	OMIM:207800
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Lymphadenopathy, Pr...	ORPHA:79477
Alg12-Cdg	Sepsis, Hypoalbuminemia, Gastroesophageal reflux, Partial absence of specific antibody response t...	ORPHA:79324
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Abdominal pain, Splenomegaly, Vas...	ORPHA:575
Rheumatic Fever	Pericarditis, Sinusitis, Epistaxis, Abnormal pleura morphology, Myocarditis, Recurrent pharyngiti...	ORPHA:3099
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis	OMIM:615785
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Excessive wrinkl...	ORPHA:3051
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis	OMIM:148600
Complement Factor D Deficiency	Recurrent bacterial infections, Partial functional complement factor D deficiency	OMIM:613912
Poems Syndrome	Diabetes mellitus, Respiratory insufficiency due to muscle weakness, Hypothyroidism, Abnormality ...	ORPHA:2905
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, High, narrow palate, Increased circulating IgG level, Hig...	OMIM:619472
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob...	ORPHA:411703
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Pruritus, Gastrointestinal inflammation, Anonychia, Palmoplantar ...	ORPHA:79410
Microlissencephaly	Pneumonia	ORPHA:1083
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Donohue Syndrome	Long penis, Acanthosis nigricans, Cholestasis, Ovarian cyst, Hyperkeratosis, Hepatic fibrosis, Pa...	OMIM:246200
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis, Decreased circulating complement C8 concentration	OMIM:613789
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:608779
Myositis	Myositis	OMIM:160750
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Abnormal b...	ORPHA:75564
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Microscopic hematuria, Pulmonary embolism, Respiratory tract infection, Minimal ...	ORPHA:567546
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent Staphylococcus...	OMIM:613860
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Psoriasiform lesion, Pruritus, Iridocycliti...	ORPHA:85436
Senior-Loken Syndrome	Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophth...	ORPHA:3156
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve...	OMIM:300291
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Sparse eyelashes, Cholangitis, Sparse eyebrow, Splen...	OMIM:613610
Pontocerebellar Hypoplasia, Type 13	Failure to thrive, Constipation, Decreased liver function, Feeding difficulties	OMIM:618606
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic h...	ORPHA:100083
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d...	OMIM:620045
Lipodystrophy, Congenital Generalized, Type 4	Elevated circulating creatine kinase concentration, Flexion contracture, Hepatic steatosis, Hepat...	OMIM:613327
Chromomycosis	Pruritus, Keratitis, Abnormal lung morphology, Hyperparakeratosis, Hyperkeratosis, Keratoconjunct...	ORPHA:182
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Predominantly lower limb lymphede...	ORPHA:90186
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Renal i...	OMIM:203800
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Brittle hair, Increased circulating IgA level, Bilateral cryptorchidism, Pyloric ste...	OMIM:616395
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Feeding difficulties in infancy...	ORPHA:1454
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Failure to thrive, Hypoalbuminemia, Cachexia	OMIM:610965
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Apnea, Albinism, Splenomegaly, Abnormal pulmonary...	OMIM:617050
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg...	ORPHA:59303
L-Ferritin Deficiency	Alopecia	OMIM:615604
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Fine hair, Nephrotic syndrome, Glomerula...	OMIM:619428
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu...	OMIM:612301
Pemphigus Erythematosus	Malar rash, Acantholysis	ORPHA:79480
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Erythema, Anemia, Palmoplantar keratoderma, Nail dystrophy, ...	ORPHA:79396
Insulin Autoimmune Syndrome	Insulin-resistant diabetes mellitus, Arthralgia/arthritis, Increased circulating antibody level, ...	ORPHA:411593
Sneddon Syndrome	Facial palsy, Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Ischemic stroke...	OMIM:182410
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Respiratory insufficiency, Lymphadenopathy, Weight loss, Inflamma...	ORPHA:26790
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Poor wound healing, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Cough	ORPHA:36386
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig...	OMIM:300636
Joubert Syndrome 9	Stage 5 chronic kidney disease, Hepatic fibrosis, Apnea, Episodic tachypnea	OMIM:612285
Adams-Oliver Syndrome	Failure to thrive, Alopecia, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Sparse...	ORPHA:974
Immunoglobulin Kappa Light Chain Deficiency	Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu...	OMIM:614102
Self-Improving Dystrophic Epidermolysis Bullosa	Nail dystrophy, Anemia, Gastrointestinal inflammation	ORPHA:79411
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Splenomegaly, Thrombocytopenia, Dysphagia, Hepatosplenomegaly, Decreased body weigh...	OMIM:608013
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Hypopigmentation of hair, Epistaxis, Albinism, Abdominal pain, Hematoche...	OMIM:203300
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Posterolateral diaphragmatic hernia, Adrenal hypoplasia, Morgagni diaphragmatic...	OMIM:613177
Ciliary Dyskinesia, Primary, 14	Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronch...	OMIM:613807
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Macronodular cirrhosis, Abnormal T cell morphology	OMIM:215250
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Functional intestinal obstruction, Gastrointestinal obstruction, E...	ORPHA:100078
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Myocardial infarction, High palate, Pulmon...	ORPHA:457240
Thyroid Hemiagenesis	Thyroid agenesis, Abdominal distention, Jaundice, Macroglossia, Constipation	ORPHA:95719
American Trypanosomiasis	Hepatomegaly, Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pa...	ORPHA:3386
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Feeding difficulties in infancy, Cholestasis, Hypocalcemia, Diffuse...	ORPHA:746
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Insulin-Resistance Syndrome Type B	Skin rash, Pneumonia, Abnormality of body weight, Abnormal circulating fatty-acid concentration, ...	ORPHA:2298
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Prolonged bleeding following procedure, Inflammation of the large intestine, Periodontitis, Hypot...	ORPHA:79259
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Restrictive ven...	OMIM:620296
Complement Component 4A Deficiency	Glomerulonephritis	OMIM:614380
Developmental And Epileptic Encephalopathy 75	Feeding difficulties in infancy, Decreased liver function, Prolonged neonatal jaundice	OMIM:618437
Retinal Dystrophy With Or Without Extraocular Anomalies	Premature ovarian insufficiency, Pulmonary fibrosis, Secondary amenorrhea, Goiter	OMIM:617175
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Meningitis, Cervical lymphadeno...	OMIM:617718
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Feeding difficulties, Decreased circulating antibody level, Recurrent ...	OMIM:617744
Mirizzi Syndrome	Elevated hepatic transaminase, Abdominal colic, Tachycardia, Nausea, Abdominal pain, Anorexia, Pa...	ORPHA:521219
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Peroxisome Biogenesis Disorder 6B	Elevated circulating phytanic acid concentration, Decreased liver function, Prolonged neonatal ja...	OMIM:614871
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Psoriasiform dermatitis, Severe B lymphocytopenia, Decreased response to growt...	ORPHA:293978
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ...	ORPHA:77293
Cardiofaciocutaneous Syndrome 3	Curly hair, Hyperkeratosis, Pulmonic stenosis, Webbed neck, Hypertrophic cardiomyopathy	OMIM:615279
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Elevated circulating...	ORPHA:226313
Epidermodysplasia Verruciformis	Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Brain-Lung-Thyroid Syndrome	Hypoparathyroidism, Respiratory distress, Neonatal respiratory distress, Recurrent respiratory in...	ORPHA:209905
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Vomiting, Decreased liver function, Diffuse hepatic steatosis, Failure to thrive, A...	ORPHA:436271
22Q11.2 Deletion Syndrome	Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Abnormal lung lobat...	ORPHA:567
Scrub Typhus	Nausea and vomiting, Anterior uveitis, Abnormal bleeding, Skin rash, Abdominal pain, Splenomegaly...	ORPHA:83317
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Diencephalic Syndrome	Long penis, Cachexia, Decreased body weight	ORPHA:1672
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti...	OMIM:613662
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Hypopigmentation of hair, Menometrorrhagia, Epist...	ORPHA:79430
Dyskeratosis Congenita, Autosomal Recessive 2	Thrombocytopenia, Pancytopenia, Cirrhosis	OMIM:613987
Kasabach-Merritt Syndrome	Respiratory distress, Reticulocytosis, Purpura, Petechiae, Abdominal pain, Thrombocytopenia, Abdo...	ORPHA:2330
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Feeding difficulti...	OMIM:619055
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Hepatomegaly, Bundle branch block, Camptodactyly of finger, Supernumerary ...	ORPHA:373
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di...	OMIM:300048
Immunodeficiency 10	Autoimmune hemolytic anemia, Hypohidrosis, Lymphadenopathy, Recurrent bacterial infections, Recur...	OMIM:612783
Fumarase Deficiency	Necrotizing enterocolitis, Failure to thrive, Decreased fumarate hydratase activity, Intrahepatic...	OMIM:606812
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Oliguria, We...	ORPHA:514
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hypoplasia of penis, Eczema, Cryptorchidism, Obesity, Ichthyosis, Aplasia/Hypoplasia of the testes	ORPHA:3055
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit...	ORPHA:29073
Idiopathic Camptocormia	Myositis, Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscl...	ORPHA:1320
Congenital Sucrase-Isomaltase Deficiency	Abdominal colic, Abdominal distention, Diarrhea, Vomiting	ORPHA:35122
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Cough, Abnorm...	ORPHA:77260
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Feeding difficulties in infancy, Hepatic necrosis, Decreased 3-hydroxy...	OMIM:231530
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr...	ORPHA:90117
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Keratitis, Thickened skin, Ery...	ORPHA:910
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Delayed puberty, ...	OMIM:232220
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Acne, Dorsocervical fat pad, Hypertension, Bruising susceptibility, Fragile skin, Hirsu...	OMIM:615830
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Anal stenosis, Dysgammaglobu...	OMIM:251260
Granulomatous Slack Skin	Erythema, Redundant skin, Cutis laxa	ORPHA:33111
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A...	ORPHA:300298
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Edema, Renal cyst, Hepatic fibrosis, Nephronophthisis, Hepatom...	OMIM:266920
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Facial palsy, Abnormal...	ORPHA:31826
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro...	ORPHA:243
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry...	ORPHA:1028
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva...	OMIM:611881
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Panniculitis, Cirrhosis, Abnormal circula...	ORPHA:79086
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Abs...	OMIM:148210
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Curly hair, Diastasis recti, Cryptorchidism, Asthma, Protuberant abdomen, In...	ORPHA:457485
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Raynaud phenomenon, Thickened skin, Erythema, Abnorma...	ORPHA:90289
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Nausea and vomiting, Elevated hemoglobin A1c, Feeding difficulties, Cirrhosis, Failure to thrive,...	OMIM:616539
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,...	OMIM:619477
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,...	OMIM:275350
Trichinellosis	Skin rash, Facial palsy, Increased circulating IgE level, Retinal hemorrhage, Conjunctivitis, Dys...	ORPHA:863
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis, Abnormality of the urinary system	OMIM:213010
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula...	ORPHA:449427
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells, Bronchiectasis, Decreased body weight	ORPHA:477814
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Chylomicron Retention Disease	Elevated hepatic transaminase, Acanthocytosis, Abdominal distention, Diarrhea, EMG: myopathic abn...	ORPHA:71
Gillessen-Kaesbach-Nishimura Syndrome	Polyhydramnios, Frontotemporal hypertrichosis, Abnormal lung lobation, Periportal fibrosis, Pulmo...	OMIM:263210
Tuberculosis	Abnormal lung morphology, Weight loss, Cough	ORPHA:3389
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Renal cyst, Hydrops fetalis, Fine hair, Hepatic fibrosis, Pulmonar...	OMIM:614091
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Kindler Epidermolysis Bullosa	Recurrent skin infections, Erythema, Cheilitis, Hyperkeratosis, Inflammation of the large intesti...	ORPHA:2908
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Thrombocytopenia	OMIM:617443
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Low cholesterol esterificat...	OMIM:257220
Formiminoglutamic Aciduria	Anemia, Abnormal circulating enzyme concentration or activity, Abnormal circulating histidine con...	ORPHA:51208
Rigid Spine Syndrome	Skeletal muscle atrophy, Hip contracture, Pneumonia, Cardiac conduction abnormality, Abnormality ...	ORPHA:97244
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Thrombocytopenia, Macrothrombocytopenia, Recurrent bacterial infections, Ne...	OMIM:603585
Ectodermal Dysplasia-Blindness Syndrome	Recurrent respiratory infections, Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperker...	ORPHA:1806
Neutropenia, Severe Congenital, X-Linked	Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio	OMIM:300299
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Feeding difficulties, Stillbirth, Decreased liver function, Neonatal death, Hepatic...	OMIM:614922
Bloom Syndrome	Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Recurrent upper respirat...	OMIM:210900
Chronic Granulomatous Disease	Recurrent respiratory infections, Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of ...	ORPHA:379
Copper Deficiency, Familial Benign	Curly hair, Early balding, Anemia, Seborrheic dermatitis	OMIM:121270
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis, Generalized amyloid deposition, Abnormal abdomen morphology	OMIM:105120
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Respiratory paralysis, E...	OMIM:121300
Lujo Hemorrhagic Fever	Respiratory distress, Elevated circulating C-reactive protein concentration, Crackles, Nonproduct...	ORPHA:319213
Primary Effusion Lymphoma	Abnormal peritoneum morphology, Abdominal pain, Abdominal distention, Dyspnea, Pleural effusion	ORPHA:48686
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia, Minimal change glomerulonephritis	OMIM:616730
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc...	OMIM:615190
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology, Abnormal pleura morphology, Respiratory insufficiency, Restrictiv...	ORPHA:724
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Tetrasomy 9P	Absent gallbladder, Myositis, Pericarditis, Recurrent urinary tract infections, Raynaud phenomeno...	ORPHA:3310
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu...	ORPHA:79332
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Respiratory insufficiency	ORPHA:157973
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased s...	ORPHA:98870
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Fi...	ORPHA:217346
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Hypospadias, Cachexia, Thin eyebrow, Decreased testicula...	ORPHA:3242
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex...	ORPHA:100086
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Reduced forced vital capacity, Dry skin, Respiratory insufficiency due to muscle weakness, Follic...	OMIM:617066
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d...	OMIM:267010
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Abnormal circul...	ORPHA:314478
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Erythema, Bradycardia	OMIM:610015
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Hepatic fibrosis, Hypoalbuminemia, Gastroesophageal reflux, Elevat...	OMIM:619534
Carcinoid Syndrome	Lack of bowel sounds, Hepatic necrosis, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Tric...	ORPHA:100093
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Hydrops fetalis, Stillbirth,...	ORPHA:85212
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Portal vein t...	ORPHA:33402
Braddock Syndrome	Congenital muscular torticollis, Neonatal respiratory distress, Abnormal hair pattern, Pulmonary ...	ORPHA:52047
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl...	ORPHA:544482
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal circulating enzyme concentration or activity, Abnormal small intestinal mucos...	ORPHA:103907
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Hypertrophic cardiomyopathy, Telangiectasia of the skin, Telangiectasia	ORPHA:79279
Eisenmenger Syndrome	Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar...	ORPHA:97214
Say-Barber-Miller Syndrome	Eczema, Highly arched eyebrow, Abnormality of the hairline, Erythema nodosum, Sparse eyebrow, Cry...	ORPHA:3132
Adiposis Dolorosa	Abdominal distention, Constipation	OMIM:103200
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Impaired T cell function, Poor appetite, Splenomegaly, Diarrhea, Low alkaline phosp...	OMIM:201100
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Severe pe...	ORPHA:678
Complement Factor B Deficiency	Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter...	OMIM:615561
Dyskeratosis Congenita, Digenic	Decreased testicular size, Alopecia, Sparse eyelashes, Recurrent infections, Decreased circulatin...	OMIM:620040
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts...	OMIM:208500
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati...	ORPHA:46059
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Failure to thrive	ORPHA:172
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Alopecia, Epidermal acanthosis, Erythema, Hyperkeratosis, Congenital ichthyosiform...	OMIM:308050
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Emphysema, Increased proportion of exhausted T cells, Facial erythema	OMIM:618307
Mcdonough Syndrome	Cryptorchidism, Synophrys, Cachexia	ORPHA:2471
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormal eyelash morphology, Thickened skin, Abnormal hair morphology, Skin ulcer, ...	ORPHA:2526
Zellweger Syndrome	Hepatomegaly, Failure to thrive, Feeding difficulties in infancy, Jaundice, Hepatic failure	ORPHA:912
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
H Syndrome	Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Abnormality of the kidney, Microc...	ORPHA:168569
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Hepatic fibrosis, Cirrhosis	OMIM:601539
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom...	ORPHA:533
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Oliver-Mcfarlane Syndrome	Sparse hair, Alopecia, Long eyelashes, Long eyebrows	OMIM:275400
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Edema, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Free Sialic Acid Storage Disease	Recurrent respiratory infections, Hepatomegaly, Failure to thrive in infancy, Proteinuria, Spleno...	ORPHA:834
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Conjunctivitis, Neutropenia, Tige...	ORPHA:33364
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Pleural effu...	ORPHA:314473
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Thick eyebrow, Diastasis recti, Splenomegaly, Recurrent upper respiratory tract inf...	OMIM:253220
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infections, Macroglo...	ORPHA:309288
Anterior Cutaneous Nerve Entrapment Syndrome	Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Leukocytosis,...	ORPHA:51890
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Adult Acute Respiratory Distress Syndrome	Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Sepsis,...	ORPHA:70578
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism,...	ORPHA:110
Qazi-Markouizos Syndrome	Torticollis, High, narrow palate, Abdominal distention, Cryptorchidism, Recurrent infections, Chr...	ORPHA:3010
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Decreased liver function, Increased hepatocellular lipid droplets, Failure to thriv...	OMIM:220110
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Hepatomegaly	ORPHA:417
Peritoneal Cystic Mesothelioma	Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Constipation, Menor...	ORPHA:168816
Athyreosis	Thyroid agenesis, Abdominal distention, Feeding difficulties, Macroglossia, Constipation, Hypothy...	ORPHA:95713
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Eczema, Pancreatic stea...	OMIM:617052
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi...	OMIM:618695
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Milroy Disease	Toenail dysplasia, Hyperkeratosis, Erysipelas	ORPHA:79452
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Small for gestational age, Hypospadias, Bronchiectasis, Respiratory insufficiency, Aspirat...	OMIM:618253
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia	OMIM:618093
Polyembryoma	Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Abdominal mass, ...	ORPHA:180229
Leigh Syndrome	Abnormal circulating enzyme concentration or activity, Failure to thrive, Eczema, Gastrointestina...	ORPHA:506
Subacute Inflammatory Demyelinating Polyneuropathy	Abnormality of the calf musculature, Increased circulating IgG level, Leukocytosis, Severe infection	ORPHA:206594
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Flexion contr...	OMIM:607014
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, A...	ORPHA:163596
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Alg3-Cdg	Abnormal circulating enzyme concentration or activity, Decreased liver function, Feeding difficul...	ORPHA:79321
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Lymphadenopathy, Ichthyosis, Neut...	OMIM:617827
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Ovarian neoplasm, Weight l...	ORPHA:2221
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Recurrent respiratory infections, Sparse eyebrow, Fine hair, Ciliary...	ORPHA:1882
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Recurrent infections, Erythroderma, Anal atre...	OMIM:617425
Hereditary Hemorrhagic Telangiectasia	Gastrointestinal hemorrhage, Portal hypertension, Microcytic anemia, Cholecystitis, Cirrhosis, Ch...	ORPHA:774
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Micropenis, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Recurrent lower ...	OMIM:615966
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Rhinitis, Generalized hirsutism	ORPHA:93476
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Respiratory insufficiency due to muscle weakness, Recurrent respiratory infections, Dry skin, Fol...	ORPHA:486815
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Decreased mitochondrial complex III activity in ...	OMIM:124000
Pachyonychia Congenita 2	Subungual hyperkeratosis, Sparse scalp hair, Dry hair, Angular cheilitis, Sparse eyebrow, Palmopl...	OMIM:167210
Fibrodysplasia Ossificans Progressiva	Alopecia, Respiratory insufficiency, Anemia	ORPHA:337
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respirato...	ORPHA:29207
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Nodular regenerative hyperp...	ORPHA:247691
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc...	OMIM:610333
Rapp-Hodgkin Syndrome	Decreased number of sweat glands, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Spar...	OMIM:129400
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele...	OMIM:232800
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Spondylometaphyseal Dysplasia, Axial	Splenomegaly, Recurrent pneumonia, Restrictive ventilatory defect	OMIM:602271
Reni Syndrome	Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Cushing Disease	Plethora, Sparse scalp hair, Acne, Dorsocervical fat pad, Myocardial infarction, Poor wound heali...	ORPHA:96253
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concent...	OMIM:210250
Pituitary Adenoma 4, Acth-Secreting	Striae distensae, Poor wound healing, Facial erythema, Hypertension, Thin skin, Ecchymosis, Bruis...	OMIM:219090
Juvenile Arthritis	Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair	ORPHA:2985
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra...	ORPHA:411696
Ameloonychohypohidrotic Syndrome	Dry skin, Onycholysis, Seborrheic dermatitis	OMIM:104570
Relapsing Polychondritis	Uveitis, Large vessel vasculitis, Conjunctivitis, Cough, Chondritis, Alopecia, Atelectasis, Hepat...	ORPHA:728
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Recurrent pneumonia, Hepatomegaly	OMIM:615637
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Abnormal hair morphology, Thickened skin, Weight loss, Premature graying of hair, Palmo...	ORPHA:1979
Sialuria	Hepatomegaly, Splenomegaly, Synophrys, Low posterior hairline, Macroglossia, High palate, Hypopla...	OMIM:269921
Werner Syndrome	Sparse scalp hair, Telangiectasia of the skin, Prematurely aged appearance, Myocardial infarction...	ORPHA:902
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Costello Syndrome	Deep-set nails, Abnormal fingernail morphology, Redundant skin, Concave nail, Hypoplastic toenail...	ORPHA:3071
Aregenerative Anemia	Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Bruising susce...	ORPHA:101096
Meckel Syndrome, Type 1	Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Adrenal hypop...	OMIM:249000
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic...	OMIM:203700
Sandifer Syndrome	Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit...	ORPHA:71272
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Hennekam Syndrome	Recurrent respiratory infections, Camptodactyly of finger, Sparse axillary hair, Malabsorption, S...	ORPHA:2136
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey...	ORPHA:2273
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot...	OMIM:116920
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Edema, Pruritus, Weight loss, Arthritis,...	ORPHA:324964
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Abnormality of the pulmonary artery, Thr...	ORPHA:290
Sialidosis Type 2	Hepatomegaly, Dyspnea, Splenomegaly, Hydrops fetalis, Pedal edema, Nephropathy, Ascites	ORPHA:87876
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Elevated hepatic transaminase, Alopecia, Premature ovarian insufficienc...	ORPHA:2959
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Pustule, Feeding difficulties in infancy, Glucocortocoid-insensitive primary hyper...	ORPHA:171876
Chikungunya	Maculopapular exanthema, Skin rash, Epistaxis, Pruritus, Erythema nodosum, Raynaud phenomenon, Cr...	ORPHA:324625
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Christianson Syndrome	Thick eyebrow, Cachexia	ORPHA:85278
Tempi Syndrome	Transudative pleural effusion, Facial erythema, Hypoxemia, Telangiectasia, Intracranial hemorrhag...	ORPHA:284227
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Cachexia, Abdominal pain, Diarrhea, Hematochezia,...	ORPHA:79076
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc...	ORPHA:1302
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ...	ORPHA:90340
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Aspir...	OMIM:301072
Meckel Syndrome, Type 3	Hepatomegaly, Malformation of the hepatic ductal plate, Cleft palate, Bile duct proliferation, He...	OMIM:607361
Holocarboxylase Synthetase Deficiency	Respiratory distress, Alopecia, Eczema, Tachypnea, Keratoconjunctivitis, Thrombocytopenia, Perior...	ORPHA:79242
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Generalized amyloid deposition, Cerebral hemorrhage	OMIM:105150
Meckel Syndrome, Type 6	Absent gallbladder, Bilobed right lung, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplas...	OMIM:612284
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, Polyhydramnios, Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:618186
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Familial Mediterranean Fever	Pericarditis, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Osteoarthritis, Peritonit...	ORPHA:342
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopecia, Congeni...	OMIM:302960
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, Heart murmur, Nail dystrophy, Atrichia, Ac...	ORPHA:1867
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Hepatic arteriovenous malformation, Gastrointestinal hemorrhage, Abdomi...	ORPHA:2929
Riboflavin Transporter Deficiency	Cachexia, Respiratory insufficiency	ORPHA:97229
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Cutis marmorata, Absent eyel...	ORPHA:69735
Yellow Nail Syndrome	Recurrent respiratory infections, Renal neoplasm, Sinusitis, Lymphedema, Biliary tract neoplasm, ...	ORPHA:662
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuri...	OMIM:243910
Multiple Endocrine Neoplasia Type 2	Cutaneous lichen amyloidosis, Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheo...	ORPHA:653
Propionic Acidemia	Hepatomegaly, Pancytopenia, Apnea, Eczema, Increased level of hippuric acid in urine, Tachypnea, ...	OMIM:606054
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Hydrops fetalis,...	ORPHA:2414
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem...	ORPHA:31204
Pulmonary Arteriovenous Malformation	Liver abscess, Myocardial infarction, Iron deficiency anemia, Gastrointestinal infarctions, Recur...	ORPHA:2038
Lig4 Syndrome	Pancytopenia, Telangiectasia of the skin, Leukocytosis, Erythema, Low anterior hairline, Acute le...	ORPHA:99812
Lymphatic Malformation 12	Neonatal respiratory distress, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphede...	OMIM:620014
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s...	ORPHA:2357
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, Lymphadeno...	OMIM:607944
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin...	OMIM:619484
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent otitis media, Hepatic failure, Feeding difficulties	OMIM:619758
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Otitis media, Telangiectases of the cheeks, Hepat...	ORPHA:576
Icf Syndrome	Recurrent respiratory infections, Abnormality of neutrophils, Protruding tongue, Malabsorption, D...	ORPHA:2268
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles...	OMIM:233450
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Esophagitis, Eosinophilic, 2	Eosinophilia, Esophagitis	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Esophagitis	OMIM:610247
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Macroscopic hematuria, Episodic h...	ORPHA:251004
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Ascites, Palmoplantar keratoderma, Weight loss	ORPHA:2198
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation	ORPHA:168829
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level	ORPHA:1296
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Recurrent respiratory infections, Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperk...	ORPHA:3253
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Failure to thrive, Abnormality of Krebs cycle metabolism, Low plasma citrulline, Dy...	ORPHA:255210
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Cold Agglutinin Disease	Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy	ORPHA:56425
Malignant Peritoneal Mesothelioma	Abdominal pain, Dyspnea, Abdominal distention, Peritonitis, Ileus, Ascites	ORPHA:168811
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Punctate Palmoplantar Keratoderma Type 1	Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis...	ORPHA:79501
Mucopolysaccharidosis Type 3	Adenoiditis, Cardiomegaly, Synophrys, Flexion contracture, Atrioventricular block, Coarse hair, O...	ORPHA:581
Complex Regional Pain Syndrome	Abnormality of hair growth, Erythema, Slow-growing nails, Dry skin	ORPHA:83452
Rh Deficiency Syndrome	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Stuve-Wiedemann Syndrome 2	Respiratory distress, Eczema, Stillbirth, Neonatal death, Pulmonary arterial hypertension, Thromb...	OMIM:619751
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Splenomegaly, Tachy...	OMIM:253260
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Lymphopenia, Thrombocytopenia	OMIM:616744
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Abnormal lung lobation, Hypoalbuminemia, Vomiting, Gastroesophageal...	OMIM:270400
Rhizomelic Chondrodysplasia Punctata	Alopecia, Dry skin, Sparse body hair, Ichthyosis	ORPHA:177
Giant Cell Arteritis	Pericarditis, Anorexia, Abdominal pain, Weight loss, Arthritis, Gastrointestinal infarctions, Hep...	ORPHA:397
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Corneodermatoosseous Syndrome	Abnormal fingernail morphology, Thickened skin, Erythema, Palmoplantar keratoderma, Absent finger...	ORPHA:3194
Nephroblastoma	Weight loss, Neoplasm of the lung, Neoplasm of the liver, Hematuria, Lymphadenopathy, Nephroblastoma	ORPHA:654
Acitretin/Etretinate Embryopathy	High palate, Third degree atrioventricular block, Bradycardia, Hypoplasia of the thymus, Median c...	ORPHA:40366
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Jaundice, Leukocytosis, Unconjugated...	OMIM:300908
Mucolipidosis Ii Alpha/Beta	Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Sparse hair, Hepatomegaly, Spars...	OMIM:252500
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Acanthosis nigricans, Hepatic steatosis, Hirsutism	OMIM:612526
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Decreased body...	OMIM:231000
Amyloidosis, Primary Localized Cutaneous, 2	Cutaneous amyloidosis	OMIM:613955
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Nausea and vomiting, Hepatomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis, A...	ORPHA:289916
Wild Type Attr Amyloidosis	Hepatomegaly, Abnormal EKG, Bowel incontinence, Myocardial infarction, Congestive heart failure, ...	ORPHA:330001
Alagille Syndrome 1	Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,...	OMIM:118450
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes	ORPHA:3363
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti...	OMIM:244400
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Skeletal muscle atr...	OMIM:615512
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Premature osteoarthritis, Upper airway obstruction, Hepatosplenomegaly	ORPHA:93352
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Tarp Syndrome	Neonatal death, Failure to thrive, Hepatic failure	OMIM:311900
Vitamin B12-Unresponsive Methylmalonic Acidemia	Nausea and vomiting, Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopeni...	ORPHA:27
Warty Dyskeratoma	Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis	ORPHA:69745
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Synophrys, Decreased circulating total IgM, Decreased circulating IgG level, Hirsutism, Decreased...	OMIM:300861
Restrictive Dermopathy	Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl...	ORPHA:1662
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti...	OMIM:120100
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Alopecia totalis, Erythema, Facial erythe...	ORPHA:221016
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Edema, Polyhydramnios, Splenomegaly, Atelectasis, Renal hypoplasia, Respiratory ins...	OMIM:269860
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Pancytopenia, Skin rash, Dilated cardiomyopathy, Erythema	OMIM:618321
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Renal cortical adenoma, Pa...	ORPHA:97290
Recessive Dystrophic Epidermolysis Bullosa Inversa	Esophageal stricture, Nail dystrophy, Anemia, Gastrointestinal inflammation	ORPHA:79409
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Amyloidosis	OMIM:204850
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Telangiectasia, Livedo, Onycholysis, Nail dystrophy, Facial ...	OMIM:614564
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hirsutism, Hepatosplenomegaly	ORPHA:313855
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d...	OMIM:615726
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Xerostomia, Nail dystrophy, Anemia	OMIM:175500
Argininosuccinic Aciduria	Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati...	OMIM:207900
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Telangiectasia of the skin, Seborrheic dermatitis	ORPHA:276280
Dystonia 31	Abnormal posturing, Dysphagia	OMIM:619565
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure, Myeloid leukemia	ORPHA:331
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Polyhydramnios, Cryptorchidism,...	OMIM:603467
Tarp Syndrome	Extramedullary hematopoiesis, Apnea, Abnormal hair pattern, Cryptorchidism, Cleft palate, Glossop...	ORPHA:2886
Restrictive Dermopathy 1	Prominent superficial blood vessels, Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Abse...	OMIM:275210
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia, Dysphagia	OMIM:254900
Amyloidosis, Cutaneous Bullous	Amyloidosis	OMIM:204900
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Skin ulcer, Bronchiolitis, Chronic otitis media, Emphysema, Chro...	OMIM:604571
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr...	OMIM:105600
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level, Vasculitis in the skin	ORPHA:90000
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Small for gestational age, Aspiration pneumonia	OMIM:619057
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Porokeratosis, Skin rash, Sparse eyelashes, Alopecia totalis, Aplastic an...	ORPHA:2909
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties, Elevated circulating alkaline...	OMIM:618268
O'Sullivan-Mcleod Syndrome	Eosinophilia, Hand muscle weakness, Intrinsic hand muscle atrophy, Upper limb muscle weakness, In...	ORPHA:99965
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, Hyperkeratosis, I...	ORPHA:281090
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, High p...	ORPHA:98905
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Vomiting, Hy...	ORPHA:466650
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,...	ORPHA:288
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Facial edema, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Cryptorchidism, Recurrent infections, Decreased circulating antibody level	OMIM:616910
Warburg-Cinotti Syndrome	Poor wound healing, Pneumothorax, Erythema, Thin skin, Follicular hyperkeratosis, Corneal neovasc...	OMIM:618175
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Polyhydramnios, Proteinuria, Cachexia	ORPHA:2774
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Se...	ORPHA:95455
Muckle-Wells Syndrome	Maculopapular exanthema, Elevated circulating C-reactive protein concentration, Leukocytosis, Con...	OMIM:191900
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary in...	ORPHA:647
Mycetoma	Recurrent bacterial skin infections, Prominent superficial veins, Cobblestone-like hyperkeratosis...	ORPHA:2583
Acute Disseminated Encephalomyelitis	Viral hepatitis, Respiratory failure requiring assisted ventilation, Disseminated viral infection...	ORPHA:83597
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Breathing dysregulation	OMIM:610688
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal...	ORPHA:70587
Lethal Congenital Contracture Syndrome 10	Torticollis, Cardiomegaly, Narrow palate, Macroglossia, High palate, Hypoplasia of the thymus, Pu...	OMIM:617022
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Xerostomia, Nephrolithiasi...	OMIM:617321
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Abnormal bleedi...	ORPHA:79329
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Cystic Fibrosis	Hepatomegaly, Meconium ileus, Diarrhea, Recurrent pneumonia, Ileus, Biliary cirrhosis, Bronchiect...	OMIM:219700
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Cowden Syndrome 1	Colonic diverticula, Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Hamartom...	OMIM:158350
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Thrombocytopeni...	ORPHA:1775
Scleromyxedema	Abnormality of the gastrointestinal tract, Transient ischemic attack, Elevated circulating creati...	ORPHA:167635
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Feeding difficulties in infancy, Thrombocytop...	OMIM:251110
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Alopecia totalis, Facial erythema, Anemia...	ORPHA:221008
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr...	OMIM:300455
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Hair-nail ectodermal dysplasia, Abno...	OMIM:614929
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Methylmalonic aciduria, Generalized hirsutism, Cachexia	ORPHA:1933
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif...	ORPHA:1201
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair	ORPHA:2611
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Redundant skin, Abnormal eyelash morphology, Low posterior hairl...	ORPHA:1340
Eec Syndrome	Slow-growing hair, Decreased response to growth hormone stimulation test, Keratitis, Sparse eyebr...	ORPHA:1896
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Pachyonychia Congenita 1	Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo...	ORPHA:319487
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Secretory diarrhea, Feeding difficulties, Hematochezia, Hypoa...	OMIM:618183
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Folinic Acid-Responsive Seizures	Respiratory distress, Abdominal distention, Apnea	ORPHA:79097
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Failure to thrive in infancy, Cachexia, Respiratory insufficien...	ORPHA:702
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Curly hair, Sparse scalp hair, Eczema, Webbed neck, Hyperkeratosis, Loose a...	OMIM:607721
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Fair hair, Eczema, Recurrent bronchitis, Poor wound healing, Thickened skin, Asthma...	OMIM:620331
Obesity Due To Congenital Leptin Deficiency	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti...	ORPHA:66628
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Hepatomegaly, Anhidrosis, Recurrent respiratory infections, Elevated hepati...	OMIM:615273
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, He...	ORPHA:85408
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Acute leukemia, Hyperkeratosis, Ichthyosis, Sparse hair	ORPHA:3474
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Splenomegaly, Generalized hirsutism, Polycystic ovaries, Thin skin,...	ORPHA:2348
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Vomiting, Hepatic failure, Hyperalan...	OMIM:252010
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Acute Liver Failure	Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Vomiting, Nausea, Hyperventil...	ORPHA:90062
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Flynn-Aird Syndrome	Alopecia, Cachexia	ORPHA:2047
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti...	ORPHA:179494
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Apnea, Synophrys, Facial erythema, Scaling skin, Chronic otitis media, Aspiration, Thoracic hyper...	OMIM:619503
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Cryptorchidism, Recurrent pneumonia, Recurrent upper respiratory tract infe...	OMIM:607143
Tetrasomy 12P	Sparse hair, Sparse eyebrow, Cachexia	ORPHA:884
Xeroderma Pigmentosum, Complementation Group F	Cutaneous photosensitivity, Erythema	OMIM:278760
Familial Pancreatic Carcinoma	Nausea and vomiting, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus,...	ORPHA:1333
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukop...	ORPHA:508542
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory...	OMIM:615505
Spondyloepimetaphyseal Dysplasia, Shohat Type	Splenomegaly, Abdominal distention, Hepatomegaly	OMIM:602557
Chronic Graft Versus Host Disease	Fasciitis, Cough, Skin vesicle, Alopecia, Poor wound healing, Thickened skin, Bronchiectasis, Ski...	ORPHA:99921
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Dyspnea, Elevated b...	OMIM:619611
Fountain Syndrome	Synophrys, Erythema, Cutis marmorata, Thick eyebrow	ORPHA:3219
Serotonin Syndrome	Diarrhea, Hepatic failure, Nausea	ORPHA:43116
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega...	OMIM:608594
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Spondylocostal Dysostosis 1, Autosomal Recessive	Abdominal distention, Recurrent respiratory infections, Protuberant abdomen	OMIM:277300
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Eczema, Allergic rhinitis, Elbow contracture, Asthm...	OMIM:618162
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated hepatic transaminase, Micronodular cirrhosis, Gastrointestinal hemorrhage	OMIM:192315
Fanconi Renotubular Syndrome 5	Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma	OMIM:618913
Noonan Syndrome 10	Curly hair, Mitral stenosis, Sparse eyebrow, Patent ductus arteriosus, Hyperkeratosis, Mitral reg...	OMIM:616564
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi...	OMIM:615451
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Caffey Disease	Feeding difficulties in infancy, Increased circulating antibody level, Respiratory insufficiency	ORPHA:1310
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas...	OMIM:612649
Acute Intermittent Porphyria	Nausea and vomiting, Proximal muscle weakness in upper limbs, Tachycardia, Abnormal circulating e...	ORPHA:79276
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Frontal balding, Oligozoospermia...	OMIM:602668
Gm1 Gangliosidosis	Recurrent respiratory infections, Camptodactyly of finger, Splenomegaly, Congestive heart failure...	ORPHA:354
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hepatic failure, Portal hypertension	OMIM:619431
Dracunculiasis	Pruritus, Recurrent cutaneous abscess formation, Skin rash, Arthritis	ORPHA:231
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Respiratory insufficiency, Ichthyosis	OMIM:215100
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp...	OMIM:619971
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, T...	OMIM:607823
Cranioectodermal Dysplasia 1	Recurrent respiratory infections, Hepatomegaly, Slow-growing hair, Short nail, Malformation of th...	OMIM:218330
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Pulmon...	ORPHA:3032
Complement Factor H Deficiency	Depletion of components of the alternative complement pathway, Recurrent bacterial infections, De...	OMIM:609814
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Splenomegaly, Increased urinary O-linked sialop...	ORPHA:812
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Neoplasm of the lung, Lymphade...	ORPHA:1332
Meckel Syndrome 14	Increased nuchal translucency, Pneumothorax, Cardiorespiratory arrest, Hepatic fibrosis, Pulmonar...	OMIM:619879
Bardet-Biedl Syndrome 1	Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, High, narrow palate, As...	OMIM:209900
Pelger-Huet Anomaly	Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr...	OMIM:169400
Dyskeratosis Congenita, Autosomal Recessive 8	Sparse scalp hair, Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopen...	OMIM:620133
Meckel Syndrome, Type 2	Bile duct proliferation, Intestinal malrotation, Cleft palate	OMIM:603194
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Sparse scalp hair, Recurrent respiratory infections, Scapular winging, Myocard...	OMIM:150230
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n...	OMIM:608203
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Hepatomegaly, Respiratory insufficiency, Weight loss, Failure t...	ORPHA:1842
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi...	OMIM:613808
Ring Chromosome 10 Syndrome	Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurren...	OMIM:252920
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Erythema nodosum, Splenomegaly, Pruritus, Jaundice, ...	OMIM:613471
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Recurrent respiratory infections, Aganglionic megacolon, Malabsorption, Abnormality of the pancre...	ORPHA:935
Pulmonary Alveolar Proteinosis, Acquired	Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ...	OMIM:610910
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Pancytopenia, Skin ...	OMIM:277380
Familial Tumoral Calcinosis	Splenomegaly, Erythema, Skin rash	ORPHA:53715
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Malt Lymphoma	Nausea and vomiting, Recurrent respiratory infections, Abdominal pain, Abnormality of the thyroid...	ORPHA:52417
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Frontal upsweep of ha...	OMIM:618419
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Oroticaciduria, Intraalveolar phospholipid accumulation, Respiratory ...	OMIM:222700
Achondrogenesis Type 1A	Aplasia/Hypoplasia of the lungs, Abdominal distention	ORPHA:93299
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i...	OMIM:266600
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Thickened skin, Acne, Seborrheic dermatitis	OMIM:167100
Macs Syndrome	Alopecia, Redundant skin, Sparse eyebrow, Bronchiectasis, Cutis laxa, Recurrent aphthous stomatit...	OMIM:613075
Cystic Fibrosis	Elevated hepatic transaminase, Sinusitis, Meconium ileus, Bronchiectasis, Abnormality of the live...	ORPHA:586
Immunodeficiency 77	Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess	OMIM:619223
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Nodula...	ORPHA:404454
Cocaine Intoxication	Respiratory distress, Proteinuria, Glomerulonephritis, Diffuse alveolar hemorrhage, Hyperventilat...	ORPHA:90068
Hereditary Orotic Aciduria	Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia	ORPHA:30
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Pierson Syndrome	Feeding difficulties, Hypoproteinemia, Tube feeding	OMIM:609049
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Elevated hepatic transaminase, Keratitis, Splenomegaly, Jaundice, Neo...	ORPHA:525731
Asthma, Short Stature, And Elevated Iga	Asthma, Increased circulating IgA level	OMIM:208600
Alström Syndrome	Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating...	ORPHA:64
Turner Syndrome Due To Structural X Chromosome Anomalies	Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Inflammation of the la...	ORPHA:99413
Mosaic Monosomy X	Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Inflammation of the la...	ORPHA:99228
Monosomy X	Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Inflammation of the la...	ORPHA:99226
Turner Syndrome	Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Inflammation of the la...	ORPHA:881
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch...	OMIM:615500
Degcags Syndrome	Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Premature graying of hair, Leukopeni...	OMIM:619488
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Neoplasm of the lung, S...	ORPHA:142
Neuronal Intestinal Pseudoobstruction	Malabsorption, Recurrent infections, Congenital diaphragmatic hernia, Decreased circulating antib...	ORPHA:99811
Takayasu Arteritis	Increased inflammatory response, Weight loss, Arthritis, Pulmonary arterial hypertension, Inflamm...	ORPHA:3287
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Fraser Syndrome 2	Intestinal malrotation, Abdominal distention, Rectal atresia, Low anterior hairline, Respiratory ...	OMIM:617666
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Elevated circulating creatine ...	OMIM:253700
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Ciliary Dyskinesia, Primary, 16	Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot...	OMIM:614017
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Jaundi...	ORPHA:677
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Thymic Carcinoma	Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Weight loss...	ORPHA:99868
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Urinary retention, Slender build, Anemia, Eleva...	ORPHA:1328
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Skin ulcer, Fine hair, ...	ORPHA:978
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm...	ORPHA:424019
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Cachexia, Abnormal hair pattern, Synophrys, Obesity, Acanthosis nigricans, D...	ORPHA:85293
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Alopecia, Recurrent urinary tract infections, Recurrent skin infections, Pn...	ORPHA:79404
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Atopic dermatitis,...	OMIM:115150
Plague	Respiratory distress, Chapped lip, Anorexia, Lymphadenitis, Sepsis, Bloody diarrhea, Acute infect...	ORPHA:707
Focal Dermal Hypoplasia	Alopecia, Telangiectasia of the skin, Patent ductus arteriosus, Erythema, Aplasia/Hypoplasia of t...	ORPHA:2092
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Polycythemia Vera	Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Pruritus, Splenomegaly, Portal ...	ORPHA:729
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Absence Of Fingerprints-Congenital Milia Syndrome	Thickened skin, Skin rash, Thin skin	ORPHA:1658
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Eczema, Abnormal pattern of respiration, Congestive hea...	ORPHA:428
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia, Dysphagia	ORPHA:52368
Thyroid Lymphoma	Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Lymphadenopathy, Strido...	ORPHA:97285
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, Synophrys, Hypochromic microcytic a...	ORPHA:96123
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi...	ORPHA:97289
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Nasal polyposis, Cough, Absent outer dynein arms, Asthma, Bronc...	OMIM:616037
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Apnea, Edema, Leukocy...	ORPHA:20
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Reduced leukocyte arylsulfatase B activity, Spl...	OMIM:253200
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Pulmonary embolism, Sepsis, Hyperhidrosis, Vo...	ORPHA:94093
Sialuria	Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Upper airway obstruction, Episo...	ORPHA:3166
Galloway-Mowat Syndrome 1	Small for gestational age, Hypoalbuminemia, Feeding difficulties	OMIM:251300
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicc...	ORPHA:309031
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Pulmonary embolism, Abnormali...	ORPHA:90308
Galloway-Mowat Syndrome 3	Failure to thrive, Hypoalbuminemia	OMIM:617729
Neuroendocrine Tumor Of The Rectum	Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypical pulmonary carcinoid tumor, Carcinoid tu...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypical pulmonary carcinoid tumor, Carcinoid tu...	ORPHA:100082
Meckel Syndrome, Type 5	Bile duct proliferation, Cleft palate	OMIM:611561
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi...	OMIM:608647
Treacher-Collins Syndrome	Absent eyelashes, Abnormal hair morphology, Cryptorchidism, Low anterior hairline, Tracheoesophag...	ORPHA:861
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Neonatal respiratory distress, Skin rash, Small for gestational ag...	ORPHA:69665
Kaposiform Lymphangiomatosis	Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Abnormality of the lymphatic...	ORPHA:464329
Grfoma	Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome...	ORPHA:97261
Achondrogenesis, Type Ib	Abdominal distention, Respiratory insufficiency	OMIM:600972
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Seborrheic dermatitis, Large for gestational age, Microvesicular hepatic steatosis,...	OMIM:300868
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Erythema, Dilated cardiomyopathy,...	ORPHA:550
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria...	ORPHA:191
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patent ductus arterio...	OMIM:106260
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Abdominal colic, Liver abscess, Diabetes mellitus, Cholangitis, In...	ORPHA:69663
Meckel Syndrome, Type 4	Bile duct proliferation, Cleft palate	OMIM:611134
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F...	ORPHA:264675
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurrent upper respir...	OMIM:252900
Menkes Disease	Alopecia, Brittle hair, Cutis laxa, Intracranial hemorrhage, Sparse hair	OMIM:309400
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph...	ORPHA:100080
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k...	ORPHA:79408
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Plethora, Alopecia, Striae distensae, Acne, Dorsocervical fat pad, Hypertension, Bruising suscept...	ORPHA:189427
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Thrombocytopenia, Elevated circulating a...	OMIM:259700
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Oligosacchariduria, Ly...	ORPHA:2483
Keutel Syndrome	Recurrent respiratory infections, Alopecia, Pulmonary artery stenosis, Recurrent sinusitis, Recur...	ORPHA:85202
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, B...	OMIM:617092
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom...	ORPHA:64739
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Trichiasis, Hyperkeratosis, Ectodermal dysplasia, Nail dysplasia, Trichodysplasia...	OMIM:601701
Kcnq2-Related Epileptic Encephalopathy	Apnea, Pallor, Facial erythema	ORPHA:439218
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Recurrent skin infections, Thrombocytopenia	OMIM:614171
Meckel Syndrome, Type 8	Abdominal distention, Enlarged kidney, Cleft palate	OMIM:613885
Timothy Syndrome	Prolonged QT interval, Pneumonia, Bronchitis, Cardiomegaly, Ventricular tachycardia, Atrioventric...	OMIM:601005
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ...	ORPHA:565612
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Feeding difficulties in infancy, Thrombocytop...	OMIM:251100
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Intrinsic hand muscle atrophy, Dysphagia	OMIM:304700
Chops Syndrome	Curly hair, Chronic lung disease, Gastroparesis, Thick hair, Splenomegaly, High, narrow palate, S...	OMIM:616368
Joubert Syndrome 1	Central apnea, Episodic tachypnea, Highly arched eyebrow, Renal cyst, Hepatic fibrosis, Nephropat...	OMIM:213300
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia, Ichthyosis	OMIM:242510
Alg9-Cdg	Hepatomegaly, Villous atrophy, Tricuspid regurgitation, Torticollis, Hypoplasia of the musculatur...	ORPHA:79328
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nail pits, Ectodermal ...	OMIM:103285
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Peritoni...	OMIM:619351
Thyroid Hypoplasia	Abdominal distention, Jaundice, Macroglossia, Constipation, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Classic Pantothenate Kinase-Associated Neurodegeneration	Cough, Abnormal posturing, Aspiration pneumonia, Dysphagia	ORPHA:216866
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,...	OMIM:615444
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent respiratory infections, Apnea, Abnormality of hair texture, Splenomegaly,...	ORPHA:667
Sunct Syndrome	Flushing, Rhinorrhea, Facial erythema	ORPHA:57145
Lymphatic Malformation 7	Respiratory distress, Abdominal distention, Chylothorax, Pleural effusion, Ascites, Anemia, Pulmo...	OMIM:617300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture...	OMIM:616263
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Pulmonary embolism, Lymphangioma, Splenomegaly, Neoplasm...	ORPHA:744
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Feeding difficulties,...	ORPHA:79284
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Erysipelas, Hypoalbuminemia	OMIM:235510
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Elevated circulating creatine kinase concentration, Alopecia totali...	OMIM:618775
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Noonan Syndrome 2	Curly hair, Mitral stenosis, Sparse eyebrow, Patent ductus arteriosus, Low posterior hairline, Hy...	OMIM:605275
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein ...	OMIM:614935
Infantile Krabbe Disease	Respiratory distress, Abnormal circulating enzyme concentration or activity, Cachexia, Respirator...	ORPHA:206436
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst, Respiratory insufficiency	ORPHA:2031
Metachromatic Leukodystrophy, Adult Form	Bowel incontinence, Abdominal distention, Cholecystitis, Neoplasm of the gallbladder, Orthostatic...	ORPHA:309271
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Hypoventilation, Elevated circulating aspartate aminotransferase concentration, Fee...	OMIM:606056
Myotonic Dystrophy 1	Respiratory distress, Atrial flutter, Atrial fibrillation, Frontal balding, First degree atrioven...	OMIM:160900
Hurler-Scheie Syndrome	Recurrent respiratory infections, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly,...	OMIM:607015
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Polyhydramnios, Splenomegaly, Reduced renal corticomedull...	OMIM:618541
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Carney Triad	Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin...	ORPHA:139411
Gcgr-Related Hyperglucagonemia	Stomatitis, Necrolytic migratory erythema	ORPHA:438274
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Pleuritis, Erysipelas	OMIM:134610
Scorpion Envenomation	Bundle branch block, Acute pancreatitis, Pulmonary edema, Tachycardia, Cardiac conduction abnorma...	ORPHA:466677
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Infantile Systemic Hyalinosis	Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Camptodactyly of finger, M...	ORPHA:2176
Van Den Bosch Syndrome	Recurrent respiratory infections, Recurrent skin infections, Acrokeratosis	ORPHA:3417
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Neonatal respiratory distress, Tachycardia, Apnea, Erythema, Retinal hemorrhage, Stridor, Hyperte...	OMIM:614653
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at...	ORPHA:1876
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption	OMIM:606824
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ...	OMIM:614679
Alopecia Antibody Deficiency	Recurrent respiratory infections, Abnormal eyelash morphology, Decreased circulating antibody lev...	ORPHA:1006
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Silver-Russell Syndrome	Failure to thrive in infancy, Hypospadias, Cachexia, Cryptorchidism, Obesity, Abnormality of the ...	ORPHA:813
Occipital Horn Syndrome	Recurrent urinary tract infections, Gastroparesis, Thick hair, Hiatus hernia, High, narrow palate...	ORPHA:198
Ramon Syndrome	Angiokeratoma, Telangiectasia, Hyperkeratosis, Juvenile rheumatoid arthritis, Hypertrichosis	OMIM:266270
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurrent upper respir...	OMIM:252930
Pancreatic Colipase Deficiency	Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ...	ORPHA:309108
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Decreased liver function	OMIM:614863
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Pneumonia, Recurrent respiratory i...	OMIM:264090
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Johanson-Blizzard Syndrome	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Micropenis, Hepatomegaly, Hypospadias...	OMIM:243800
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention, Cholecystitis	ORPHA:309256
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism	ORPHA:79431
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Respiratory distress, Apnea, Facial hypotonia, Anorexi...	ORPHA:2131
Tay-Sachs Disease	Skeletal muscle atrophy, Abnormal circulating enzyme concentration or activity, Hip flexor weakne...	ORPHA:845
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Tricuspid regurgitation, Trichorrhexis nodosa, Sinus bradycardia, Mitral regurgitation,...	OMIM:261990
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Recurrent skin infections, Edema of the dorsu...	ORPHA:568051
Leprosy	Absent eyebrow, Alopecia, Epistaxis, Abnormality of the spleen, Loss of eyelashes, Penetrating fo...	ORPHA:548
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Congenital hypoparathyroidism, Anemia	OMIM:244460
Atypical Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Abnormality of the pulmonary artery, Alopecia, Pr...	ORPHA:79474
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom...	ORPHA:199241
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Abnormal circulating enzyme concentration or activity, Pancytopenia, Recurr...	ORPHA:309282
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Alopecia, Mitral regurgitation	ORPHA:88630
Familial Thrombocytosis	Acute myeloid leukemia, Pruritus, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Pulmon...	ORPHA:71493
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Decreased iduronate sulfatase level, Heparan sulfate excretion in urine, Splenomega...	OMIM:309900
Schwartz-Jampel Syndrome	Abnormal eyebrow morphology, Apnea, Long eyelashes in irregular rows, Cachexia, Polyhydramnios, A...	ORPHA:800
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash, Tachypnea, Thrombocytopenia, Hyperventilation	OMIM:253270
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Niemann-Pick Disease Type C	Hepatomegaly, Bone-marrow foam cells, Low cholesterol esterification rate, Splenomegaly, Jaundice...	ORPHA:646
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Edema, Leukocytosis, Tachypnea, Dehydration, Weight loss, Cough, Thrombo...	ORPHA:134
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Feeding difficulties, Leukopenia, H...	OMIM:613845
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Seborrheic dermatitis	OMIM:210210
Mucopolysaccharidosis Type 6	Sinusitis, Splenomegaly, Recurrent upper respiratory tract infections, Mucopolysacchariduria, Chr...	ORPHA:583
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoventilation, Elbow contracture, Abdominal distention, Feeding difficulties, Gastroesophageal ...	OMIM:620275
Parkes Weber Syndrome	Prominent superficial blood vessels, Subarachnoid hemorrhage, High-output congestive heart failur...	ORPHA:90307
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, ...	ORPHA:64744
Adams-Oliver Syndrome 2	Alopecia, Cutis marmorata, Low anterior hairline, Small nail	OMIM:614219
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Recurrent urinary tract infections, Recurrent respiratory infections, Hypop...	OMIM:619365
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Pmm2-Cdg	Respiratory distress, Multiple joint contractures, Elevated circulating thyroid-stimulating hormo...	ORPHA:79318
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Diaphanospondylodysostosis	Respiratory distress, Respiratory insufficiency, Cleft palate, Abnormal liver lobulation, Pulmona...	OMIM:608022
Glycogen Storage Disease Ia	Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Decreased muscle mass, Delayed pu...	OMIM:232200
Gm1 Gangliosidosis Type 1	Thickened skin, Hydrops fetalis, Hepatosplenomegaly, Decreased beta-galactosidase activity, Urina...	ORPHA:79255
Encephalitis Lethargica	Bowel incontinence, Recurrent viral infections, Upper limb muscle weakness, Increased circulating...	ORPHA:83600
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Hydrops fetalis, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kidney d...	OMIM:263520
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Kanzaki Disease	Telangiectasia of the oral mucosa, Lip telangiectasia, Angiokeratoma corporis diffusum, Lacunar s...	OMIM:609242
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention, Cholecystitis	ORPHA:309263
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Seborrheic dermatitis, Thrombocytopenia, Leukocytosis, Patent ductus arteriosus, He...	OMIM:274000
Gonadoblastoma	Abdominal pain, Abdominal distention, Hirsutism, Increased serum testosterone level, Ovarian gona...	ORPHA:206484
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto...	OMIM:153670
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Tachycardia, Apnea, Episodic tachypnea, Dy...	ORPHA:79264
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Sporadic Infantile Bilateral Striatal Necrosis	Recurrent streptococcus pneumoniae infections, Recurrent upper respiratory tract infections, Titu...	ORPHA:225147
Monosomy 18P	Webbed neck, Alopecia, Hypertension, Low posterior hairline	ORPHA:1598
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia	OMIM:617243
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:306000
Greenberg Dysplasia	Hepatomegaly, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, Pancreatic islet...	OMIM:215140
Congenital Myopathy 21 With Early Respiratory Failure	Elevated circulating creatine kinase concentration, Dyspnea, Lipoid pneumonia, EMG: myopathic abn...	OMIM:620326
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Sparse scalp hair, Neonatal respiratory distress, Recurrent respiratory inf...	OMIM:614748
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Congestive heart failure, Emphysema, Premature graying of hair,...	ORPHA:363618
Neuroendocrine Neoplasm Of Appendix	Anorexia, Poor appetite, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i...	ORPHA:100079
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal mast cell morphology, Abnormal epidermal morphology	ORPHA:398189
Ullrich Congenital Muscular Dystrophy 1	Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Nocturnal hypoventil...	OMIM:254090
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Renal tubular acidosis, Decreased activity of NADPH oxidase, Organic aciduria, Aspiration pneumon...	ORPHA:431361
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Sparse scalp hair, Anhidrosis, Recurrent respiratory infections, Splenomegaly, Defe...	OMIM:612132
Mandibuloacral Dysplasia	Alopecia, Increased subcutaneous truncal adipose tissue, Sparse hair, Thin skin, Acanthosis nigri...	ORPHA:2457
Hepatoerythropoietic Porphyria	Facial hypertrichosis, Recurrent bacterial skin infections, Hemolytic anemia, Abnormal circulatin...	ORPHA:95159
Fanconi-Bickel Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Poor appetite, Malab...	OMIM:227810
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Skin rash, Elevated circulating growth hormone concentrat...	ORPHA:97280
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Pulmonary cyst, Protuberant abdomen	OMIM:618272
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Feeding difficulties in infancy, Splenomegaly, Constipat...	OMIM:239200
Premature Aging Syndrome, Penttinen Type	Prominent superficial veins, Prematurely aged appearance, Thickened skin, Palmoplantar hyperkerat...	OMIM:601812
Myoclonic Epilepsy Of Lafora	Hepatic failure	OMIM:254780
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Poor wound healing, Congestive heart failure, Recurrent pneumonia, A...	OMIM:225400
Familial Benign Copper Deficiency	Early balding, Acne, Anemia	ORPHA:1551
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Progeroid facial appe...	OMIM:614008
Rett Syndrome	Apnea, Cachexia, Intermittent hyperventilation	OMIM:312750
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Abnormal...	ORPHA:70588
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Cachexia	ORPHA:300605
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Thickened skin,...	OMIM:263700
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Asplen...	ORPHA:564
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Angiokeratoma ...	ORPHA:79280
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Orofaciodigital Syndrome I	Dry hair, Alopecia, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Lobulate...	OMIM:311200
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis	ORPHA:3453
Gm1-Gangliosidosis, Type I	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Decreased beta-galactosidase...	OMIM:230500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hyperprolinemia, Anem...	OMIM:620358
Congenital Erythropoietic Porphyria	Anisocytosis, Edema, Scarring alopecia of scalp, Red-brown urine, Leukopenia, Erythroid hyperplas...	ORPHA:79277
Chronic Hiccup	Dehydration, Weight loss	ORPHA:396
Spastic Paraplegia 84, Autosomal Recessive	Hip contracture, Ankle flexion contracture, Knee flexion contracture, Crohn's disease, Leg muscle...	OMIM:619621
Fucosidosis	Acrocyanosis, Generalized hyperkeratosis, Abnormality of the nail, Vascular skin abnormality	ORPHA:349
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Flexion contracture, Feeding difficulties, Recurrent infections, G...	ORPHA:79243
Bannayan-Riley-Ruvalcaba Syndrome	Hashimoto thyroiditis, Cachexia, Lymphedema	ORPHA:109
Cranioectodermal Dysplasia 3	Cirrhosis	OMIM:614099
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
Transketolase Deficiency	Patent ductus arteriosus, Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Neonatal respiratory distress, Feeding difficulties in infancy, Type 1 muscle...	OMIM:619036
Diamond-Blackfan Anemia 7	Macrocytic anemia, Small hypothenar eminence, Cleft palate, Recurrent infections, Increased mean ...	OMIM:612562
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua...	ORPHA:70
Ppoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo...	ORPHA:97278
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Dehydration, Failure to...	OMIM:143880
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Cutaneous lichen amyloido...	OMIM:171400
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Familial Visceral Myopathy	Hyperparathyroidism, Aganglionic megacolon, Camptodactyly of finger, Abdominal distention, Aplasi...	ORPHA:2604
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
X-Linked Acrogigantism	Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt...	ORPHA:300373
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Skin vesicle, Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Scheie Syndrome	Splenomegaly, Mucopolysacchariduria, Rhinitis, Hepatomegaly	ORPHA:93474
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Progeroid facial appearance, ...	ORPHA:90153
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma...	OMIM:175200
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Alopecia, Pancreatitis, Progeroid facial appearance	ORPHA:412057
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach...	OMIM:263000
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Pulmonary artery stenosis, Coarse hair, Nail dystrophy	ORPHA:75389
Geleophysic Dysplasia 3	Hepatomegaly, Pneumonia, Polyhydramnios, Dyspnea, Thickened skin, Respiratory failure	OMIM:617809
Kury-Isidor Syndrome	Recurrent otitis media, Alopecia, Hypertrichosis	OMIM:619762
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,...	OMIM:218700
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Recurrent respiratory infections, Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Facia...	OMIM:620186
Platyspondylic Dysplasia, Torrance Type	Abdominal distention, Pulmonary hypoplasia, Cleft palate	ORPHA:85166
Trisomy 18	Abnormality of the upper urinary tract, Cachexia, Cryptorchidism, Webbed neck, Hydronephrosis, Ol...	ORPHA:3380
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela...	ORPHA:544488
Bazex-Dupre-Christol Syndrome	Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Sparse hair, Pili torti, Acne inversa	OMIM:301845
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Congenital muscular torticollis, Intestinal malrotation, Hiatus hernia, Abnormality...	ORPHA:2538
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephritis, Aminoa...	ORPHA:91500
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur...	ORPHA:204
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Dysphagia, Failure...	OMIM:616457
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Anomalous origin of one pulmonary artery from ascending aorta,...	ORPHA:3384
Cartilage-Hair Hypoplasia	Hepatomegaly, Aganglionic megacolon, Malabsorption, Sparse eyebrow, Abnormality of the pancreas, ...	ORPHA:175
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Cerebral edema	OMIM:608033
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Unusual skin infection, Sinusitis, Pneumonia, Nausea, Facial palsy, Pustule,...	ORPHA:68
Leprechaunism	Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Abdominal distention, Rectal prolapse, H...	ORPHA:508
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, High, narrow palate, Synophrys, High palate, Gastroesophageal re...	OMIM:122470
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Distal lower limb amyotrophy, Recurrent respiratory infections, Facial hypotonia, Cryptorchidism,...	OMIM:300534
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Exertional dyspnea	ORPHA:90037
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Heart murmur, Small nail, Ichthyosis	ORPHA:166035
Lymphangioleiomyomatosis	Recurrent respiratory infections, Abnormal urinary color, Renal neoplasm, Lymphedema, Atelectasis...	ORPHA:538
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Multiple Sulfatase Deficiency	Hepatomegaly, Splenomegaly, Coarse hair, Mucopolysacchariduria, Ichthyosis, Thick eyebrow	ORPHA:585
Colonic Atresia	Peptic ulcer, Abdominal distention, Abnormal mesentery morphology, Duodenal stenosis, Abdominal s...	ORPHA:1198
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia	OMIM:612079
Bresek Syndrome	Alopecia, Ichthyosis	ORPHA:85284
Urachal Cyst	Leukocytosis, Peritonitis, Erythema, Abscess	ORPHA:488
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Precocious puberty, High, narrow palate, Nasogastric tube feeding in infancy,...	ORPHA:369837
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Recurrent bronchitis	OMIM:612567
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Recurrent respiratory infections, Sparse eyelashes, Sparse axillary hair, Spar...	OMIM:129900
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Tachypnea, Hypoxemia, ...	ORPHA:542323
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Precocious puberty, Synophrys, Cleft palate, Hepatosplenomegaly, Chronic constipati...	OMIM:301066
Limb-Mammary Syndrome	Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Absent nipple, Sparse eyebr...	ORPHA:69085
Biotinidase Deficiency	Respiratory distress, Alopecia, Skin rash, Apnea, Conjunctivitis, Eczematoid dermatitis, Hyperven...	ORPHA:79241
Sympathetic Ophthalmia	Alopecia, Poliosis, Erythema, Retinal hemorrhage, Posterior uveitis	ORPHA:79098
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Flexion contracture, Protuberant abdomen	OMIM:613330
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Follicular hyperplasia, Or...	ORPHA:556
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ...	ORPHA:99772
Currarino Syndrome	Anal stenosis, Recurrent urinary tract infections, Perianal abscess, Gastrointestinal obstruction...	OMIM:176450
Bethlem Myopathy	Hyperkeratosis, Reduced maximal expiratory pressure, Hypoventilation	ORPHA:610
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Lacticaciduria, Neonatal death, Aspiration pneumonia, Left ventricular h...	OMIM:619167
Attrv30M Amyloidosis	Nephropathy, Weight loss, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Arboleda-Tham Syndrome	Respiratory distress, Bilateral cryptorchidism, Conjunctivitis, Gastroesophageal reflux, Chronic ...	OMIM:616268
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Colchicine Poisoning	Respiratory distress, Alopecia, Myocarditis, Leukocytosis, Congestive heart failure, Hypovolemia,...	ORPHA:31824
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Neonatal respiratory distress, Hyperkeratosis, High anterior hairline, Orthostatic hypotension	OMIM:615510
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Respir...	ORPHA:97282
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Hyperhidrosis, Hepatomegaly, Abnormal ...	ORPHA:1329
Vitamin D-Dependent Rickets, Type 2A	Elevated circulating alkaline phosphatase concentration, Elevated circulating parathyroid hormone...	OMIM:277440
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Bronc...	ORPHA:2969
Subaortic Stenosis-Short Stature Syndrome	Acne, Biliary tract abnormality, Respiratory insufficiency, Type II diabetes mellitus, Arrhythmia	ORPHA:3191
Huntington Disease-Like 1	Abnormal posturing	ORPHA:157941
Woodhouse-Sakati Syndrome	Abnormal T-wave, Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Decreased serum iron, Abnorma...	ORPHA:447
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Protuberant abdomen	OMIM:617102
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly	OMIM:610644
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis	OMIM:615947
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Dry skin, Generalized ...	ORPHA:94059
Chanarin-Dorfman Syndrome	Alopecia, Congenital nonbullous ichthyosiform erythroderma	OMIM:275630
16P12.1P12.3 Triplication Syndrome	Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Hig...	ORPHA:485405
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Head titubation, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation o...	OMIM:619708
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Decreased adipose tissue around neck, Brittle hair, Prominent superficial veins, Proger...	OMIM:608612
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia...	ORPHA:210122
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Conjunctivitis, Nail dystrophy, Nail dysplasia, Fragile skin, Anemia	OMIM:226600
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
African Trypanosomiasis	Vomiting, Conjunctivitis, Iritis, Nausea, Hepatomegaly, Alopecia, Abnormal EKG, Abnormality of th...	ORPHA:3385
Isolated Anencephaly	Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Acne, Intracranial hemorrhage, Hypertension, Hirsutism	ORPHA:90795
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Wolff-Parkinson-White syndrome, Eczema, Thick eyebrow, Seborrheic dermatitis	ORPHA:369950
Hereditary Sensory And Autonomic Neuropathy Type 4	Anhidrosis, Fasciitis, Osteomyelitis, Orthostatic hypotension due to autonomic dysfunction, Absce...	ORPHA:642
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Hyperactive renin-angi...	OMIM:214700
Hutchinson-Gilford Progeria Syndrome	Congestive heart failure, Alopecia, Angina pectoris, Myocardial infarction	OMIM:176670
Angioedema, Hereditary, 1	Angioedema, Erythema	OMIM:106100
Glycogen Storage Disease Ii	Hepatomegaly, Recurrent respiratory infections, Urinary incontinence, Cardiomegaly, Respiratory i...	OMIM:232300
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Interphalangeal joint contracture of finger, Diastasis recti, Cryptorchidism, Pulmo...	ORPHA:96334
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Neonatal sepsis, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaundice, ...	ORPHA:90790
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Epidermolysis Bullosa Simplex With Pyloric Atresia	Elevated circulating creatine kinase concentration, Abdominal distention, Scarring alopecia of sc...	ORPHA:158684
Thyroid Ectopia	Abnormality of the thyroid gland, Abdominal distention, Jaundice, Macroglossia, Constipation, Ect...	ORPHA:95712
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl...	OMIM:139090
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent respiratory infections, Alopecia, Eczema, Tracheomalacia, Intraventricular hemorrhage, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent respiratory infections, Alopecia, Eczema, Tracheomalacia, Intraventricular hemorrhage, ...	ORPHA:363958
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Keratitis, Dyspne...	ORPHA:1018
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis...	ORPHA:2241
Acys Amyloidosis	Amyloidosis, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100008
Familial Chylomicronemia Syndrome	Nausea and vomiting, Acute pancreatitis, Diabetes mellitus, Pulmonary embolism, Perianal abscess,...	ORPHA:444490
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Recurrent skin infections, Urinary bladder inflammation, Abdominal distentio...	ORPHA:79403
Lafora Disease	Hepatic failure, Recurrent aspiration pneumonia, Nasogastric tube feeding	ORPHA:501
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Prematurely aged appearance, Progeroid facial appearance, Abnormal hair morphology, Nai...	ORPHA:90154
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Neuroblastoma, Susceptibility To, 1	Abdominal mass, Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormalit...	OMIM:256700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Elevated circulating alkaline phosphatase concentration, Elevated circulating parathyroid hormone...	OMIM:264700
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Exertional dyspnea	ORPHA:90036
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Proteinuria, Predo...	ORPHA:33001
Cimdag Syndrome	Hepatomegaly, Microvesicular hepatic steatosis, Feeding difficulties, Recurrent infections, Hypog...	OMIM:619273
Autoerythrocyte Sensitization Syndrome	Superficial dermal perivascular inflammatory infiltrate, Epistaxis, Edema, Autoimmune thrombocyto...	ORPHA:324636
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Intestinal pseudo-obstruction, Decreased response to growth hormone stim...	ORPHA:273
Middle Ear Neuroendocrine Tumor	Facial palsy, Chronic noninfectious lymphadenopathy, Chronic diarrhea, Neuroendocrine neoplasm, C...	ORPHA:100084
Central Diabetes Insipidus	Dehydration, Failure to thrive, Nocturia, Weight loss	ORPHA:178029
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Megaloblastic anemia, Abnormality of hair texture, Feeding difficulties, Gastroesophageal reflux,...	ORPHA:79351
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Polyhydramnios, Lymphedema, Highly arched eyebrow, Splenomegaly...	OMIM:613563
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97283
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Sparse eyebrow, High, narrow palate, Recurrent pneumonia, Cleft palate, Furrow...	ORPHA:464738
Johnson Neuroectodermal Syndrome	Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes	ORPHA:2316
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting	ORPHA:35710
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist...	OMIM:270420
De Sanctis-Cacchione Syndrome	Parakeratosis, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity	OMIM:278800
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Pelvic mass, Weight loss, Neoplasm of the lung, Neoplasm of the l...	ORPHA:2126
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El...	ORPHA:276152
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Dubin-Johnson Syndrome	Hepatomegaly, Abdominal pain, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnorma...	ORPHA:234
Roifman-Chitayat Syndrome	Arthritis, Pneumonia, Ectopic kidney	OMIM:613328
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Pulmonary hypoplasia, Protuberant abdomen	OMIM:187600
Short Syndrome	Sparse hair, Excessive wrinkled skin, Alopecia	ORPHA:3163
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Feeding difficulties in infancy, Recurrent pneumoni...	ORPHA:314655
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Tricuspid regurgitation, Abnormal eyelash morphology, Dyspnea, Erythema, Di...	ORPHA:2556
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Redundant skin, Prominent veins on trunk, Keratoconjunctivitis sicca, Periodontitis, We...	ORPHA:536532
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hashimoto thyroiditis	ORPHA:3143
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Pulmonary arterial hypertension, Dystrophic ...	OMIM:616028
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Marfan Syndrome	Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, Emphysema, Pulmonary artery dilatation,...	ORPHA:558
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase...	ORPHA:263665
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai...	OMIM:604292
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Bone marrow hypocellularity, Alopecia, Nail dystrophy	OMIM:616353
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein con...	ORPHA:70591
Microvillus Inclusion Disease	Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Abnormal small intestinal villus mo...	ORPHA:2290
Isaacs Syndrome	Weight loss	ORPHA:84142
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Elevated c...	ORPHA:913
Cystinosis, Nephropathic	Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hepatomegal...	OMIM:219800
Osteosarcoma	Abnormal lactate dehydrogenase level, Weight loss, Joint swelling, Elevated circulating alkaline ...	ORPHA:668
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Polyhydramnios, Splenomegaly, Jaundice, Stomatocytosis, Elevated ...	OMIM:608885
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Fibrodysplasia Ossificans Progressiva	Alopecia, Respiratory failure, Respiratory insufficiency	OMIM:135100
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:268400
Fanconi Anemia, Complementation Group Q	Anteriorly placed anus, Esophageal atresia, Biliary atresia, Bone marrow hypocellularity	OMIM:615272
Esophageal Atresia	Respiratory distress, Bronchitis, Maternal diabetes, Feeding difficulties in infancy, Gastrointes...	ORPHA:1199
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Elevated circulating creatine kinase concentration, Elevated circula...	OMIM:606002
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Tricuspid regurgitation, Patent ductus arteriosus, Cutis laxa, Mitral regurgitation, Follicular h...	OMIM:614557
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Recurrent ...	OMIM:232240
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Abdominal pain, Hepatosplenomeg...	ORPHA:31150
Cysticercosis	Calcification of muscles, Iridocyclitis, Abnormal skeletal muscle morphology, Increased circulati...	ORPHA:1560
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Protuberant abdomen, Cleft palate	OMIM:184250
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Lacunar stroke, Alopecia, Transient ischemic attack	OMIM:600142
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Gapo Syndrome	Prominent scalp veins, Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic ni...	OMIM:230740
Infantile Neuroaxonal Dystrophy	Flexion contracture, Apneic episodes in infancy, Constipation, Aspiration pneumonia, Increased ci...	ORPHA:35069
Bohring-Opitz Syndrome	Recurrent respiratory infections, Apnea, Facial hypotonia, Cardiomegaly, Feeding difficulties in ...	ORPHA:97297
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Wolfram Syndrome 2	Abnormal bleeding, Diabetes mellitus, Primary amenorrhea, Decreased circulating antibody level, G...	OMIM:604928
Congenital Fiber-Type Disproportion Myopathy	Poor appetite, Nasogastric tube feeding in infancy, Flexion contracture, Knee flexion contracture...	ORPHA:2020
Gapo Syndrome	Alopecia, Sparse eyelashes, Prematurely aged appearance, Sparse eyebrow, Early balding	ORPHA:2067
Progeroid Short Stature With Pigmented Nevi	Premature ovarian insufficiency, Diabetes mellitus, Allergic rhinitis, Impaired T cell function, ...	OMIM:176690
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss	OMIM:191390
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Tracheomalacia, Abnormality of hair texture, Sparse eyebrow, Congesti...	ORPHA:2108
Stickler Syndrome	Recurrent respiratory infections, Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slende...	ORPHA:828
Huntington Disease-Like 2	Weight loss	OMIM:606438
Dyggve-Melchior-Clausen Disease	Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we...	ORPHA:239
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Dysphagia, Abnormal posturing	OMIM:128100
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati...	OMIM:615710
Fibrochondrogenesis 2	Protuberant abdomen	OMIM:614524
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Pulmonary hypoplasia, Protuberant abdomen	OMIM:151210
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hepatic hemangioma, Gastroeso...	ORPHA:73230
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Telangiectasia, Hereditary Hemorrhagic, Type 2	Hematemesis, Hematochezia, Melena, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, A...	OMIM:600376
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Prematurely aged appearance, Redundant skin, Poor wound healing, Progeroid ...	OMIM:123700
Mowat-Wilson Syndrome	Aganglionic megacolon, Pulmonary artery sling, Supernumerary nipple, Pyloric stenosis, Abdominal ...	OMIM:235730
Malignant Atrophic Papulosis	Peritonitis, Weight loss, Respiratory failure, Arteritis, Pleural effusion, Abnormality of the lo...	ORPHA:679
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Orthostatic hypotension, Recurrent urinary tract infections, Head titubation, Malnutr...	ORPHA:99027
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma	OMIM:620189
Kyphoscoliotic Ehlers-Danlos Syndrome	Cerebral hemorrhage, Poor wound healing, Synophrys, Subdural hemorrhage, Arterial rupture, Thin s...	ORPHA:536545
Neurofibroma	Neoplasm of the trachea, Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Int...	ORPHA:252183
Isolated Succinate-Coq Reductase Deficiency	Left ventricular hypertrophy, Vesicoureteral reflux, Weight loss	ORPHA:3208
Seckel Syndrome	Sparse scalp hair, Cachexia	ORPHA:808
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Metachromatic Leukodystrophy	Abnormal circulating enzyme concentration or activity, Bowel incontinence, Abnormal stomach morph...	ORPHA:512
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Marshall-Smith Syndrome	Brittle hair, Apnea, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, Glossoptosis, H...	OMIM:602535
Velocardiofacial Syndrome	Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Velopharyngeal insufficiency, Submu...	OMIM:192430
Mercury Poisoning	Respiratory distress, Tachycardia, Anorexia, Dyspnea, Episodic abdominal pain, Hypertension, Inte...	ORPHA:330021
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Hypertension, Patchy alopecia, Progeroid facial appearance	OMIM:617763
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Hypocalcemic Vitamin D-Dependent Rickets	Elevated alkaline phosphatase of bone origin, Elevated circulating parathyroid hormone level, Sec...	ORPHA:289157
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Abnormality of circulating enzyme level, Failure to thrive, Anemia	ORPHA:93598
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Recurrent respiratory infections, Renal insufficiency, Apnea, Hypo...	ORPHA:397715
Opsismodysplasia	Recurrent respiratory infections, Respiratory insufficiency, Protuberant abdomen	OMIM:258480
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Edem...	ORPHA:793
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Gastroes...	ORPHA:500150
Pentalogy Of Cantrell	Absent gallbladder, Congenital diaphragmatic hernia, Cleft palate, Pulmonary hypoplasia, Polysplenia	ORPHA:1335
Coffin-Siris Syndrome	Sparse scalp hair, Thick eyebrow, Cryptorchidism, Recurrent upper respiratory tract infections, P...	ORPHA:1465
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Skin rash	OMIM:601979
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Ichthyosis	OMIM:163200
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy...	ORPHA:747
Graves Disease, Susceptibility To, 1	Abnormal abdomen morphology, Weight loss, Goiter	OMIM:275000
Non-Functioning Paraganglioma	Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr...	ORPHA:94080
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Myocardial infarction, Osteoarthritis, Intracranial hemorrha...	ORPHA:740
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology	ORPHA:1647
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Peripheral pulmonary artery stenosis, Anal stenosis, Elevated circulating alpha-fetoprotein conce...	ORPHA:280633
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615356
Atelosteogenesis Type Ii	Bilateral cleft palate, Elbow flexion contracture, Cleft palate, Pulmonary hypoplasia, Protuberan...	ORPHA:56304
Rheumatoid Arthritis	Joint swelling, Rheumatoid arthritis, Weight loss	OMIM:180300
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Trisomy 8P	Multiple joint contractures, Cryptorchidism, Malrotation of small bowel, Abnormal lung lobation, ...	ORPHA:264450
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Fibrochondrogenesis 1	Protuberant abdomen, Joint contracture of the hand, Cleft palate, Camptodactyly	OMIM:228520
Familial Adenomatous Polyposis	Duodenal polyposis, Multiple gastric polyps, Papillary thyroid carcinoma, Adenocarcinoma of the s...	ORPHA:733
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Respira...	ORPHA:79138
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Cerebrotendinous Xanthomatosis	Angina pectoris, Myocardial infarction, Diarrhea, Tendon xanthomatosis, Respiratory insufficiency...	OMIM:213700
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Hypertension, Coarse hair, Sparse hair, Chronic otitis media, Dry skin	ORPHA:2750
Distal Duplication 5Q	Cryptorchidism, Eczema, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Schneckenbecken Dysplasia	Protuberant abdomen, Cleft palate	OMIM:269250
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Camptodactyly, Protuberant abdomen, Knee flexion contracture	OMIM:618019
Kabuki Syndrome 1	Hemolytic anemia, Anal stenosis, Intestinal malrotation, Highly arched eyebrow, Autoimmune thromb...	OMIM:147920
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level	OMIM:114065
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer	ORPHA:79140
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase conce...	OMIM:605479
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neopl...	ORPHA:424016
Cholera	Tachycardia, Achlorhydria, Abdominal pain, Diarrhea, Tachypnea, Hypovolemic shock, Vomiting, Abdo...	ORPHA:173
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp...	ORPHA:143
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Recurrent pneumonia, Chronic constipation, High palate, Recurrent aspir...	OMIM:300472
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Congenital hepatic fibrosis, Esophageal atresia, Abdominal distention, Cryptorchidism, Respirator...	ORPHA:93271
Adrenoleukodystrophy	Alopecia	OMIM:300100
Mandibuloacral Dysplasia With Type A Lipodystrophy	Reduced subcutaneous adipose tissue, Sparse scalp hair, Alopecia, Acanthosis nigricans, Onychogry...	OMIM:248370
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary rete...	ORPHA:2795
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Feeding difficulties, Chronic constipation, Aspiration pneumonia, Re...	OMIM:616430
Atopic Keratoconjunctivitis	Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Dry skin, Blepharitis, Corneal neovascu...	ORPHA:163934
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Thickened skin, Congestive heart failure, Pyelonephritis...	OMIM:181270
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Tricuspid regurgitation, Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic swea...	ORPHA:73223
Joubert Syndrome 21	Apnea, Dyspnea, Splenomegaly, Renal cyst, Respiratory failure, Pulmonary hypoplasia, Hyperechogen...	OMIM:615636
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Hepatomegaly, Bilateral trilobed lung, Cardiomegaly, Asplenia, Posteriorly ...	OMIM:306955
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Curly hair, Cyst of the ductus choledochus, Abnormal circulating thyroid ho...	ORPHA:480880
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Neonatal respiratory distress, Flexion contracture, Feeding difficulties, Small pituitary gland, ...	OMIM:619479
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Chronic lung disease, Abnormal fingernail morphology, Thick hair, Highly arched eyebr...	ORPHA:444077
Addison Disease	Normocytic anemia, Hypoparathyroidism, Primary testicular failure, Sparse axillary hair, Renal sa...	ORPHA:85138
Gastrointestinal Stromal Tumor	Abnormality of the liver, Skin rash, Anemia	ORPHA:44890
Acute Adrenal Insufficiency	Normocytic anemia, Renal insufficiency, Sparse axillary hair, Renal salt wasting, Decreased urina...	ORPHA:95409
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Encephalocraniocutaneous Lipomatosis	Alopecia, Subcutaneous lipoma, Peripheral pulmonary artery stenosis	OMIM:613001
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Decreased response to growth hormone stimulation test, Poor appetite, Feed...	ORPHA:96182
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Respiratory insufficiency, Fine hair, Hyperk...	OMIM:210710
Perry Syndrome	Central hypoventilation, Weight loss	ORPHA:178509
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Anonychia, Small...	OMIM:263650
Lissencephaly Due To Lis1 Mutation	Polyhydramnios, Aspiration pneumonia	ORPHA:95232
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary norepinephrine level, Elevated urina...	ORPHA:276621
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, D...	OMIM:131100
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Cleft palate, Respiratory insufficiency, Anemia, Intracranial...	ORPHA:163979
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo...	ORPHA:84
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis	ORPHA:3130
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Frontal balding, Precocious puberty, High, narrow palate, Synophrys, C...	ORPHA:96092
Achondrogenesis, Type Ia	Pulmonary hypoplasia, Protuberant abdomen, Protruding tongue	OMIM:200600
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus h...	ORPHA:3342
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Frontal balding, Highly arched eyebrow, Synophrys, Patent ductus arteriosus...	OMIM:612474
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Cyst of the ductus choledochus, Feeding difficulties, Chronic constipation, Unilater...	OMIM:619480
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Gastroesophageal refl...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Gastroesophageal refl...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Gastroesophageal refl...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Gastroesophageal refl...	ORPHA:93924
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Breathing dysregulation, Abnormality of the endocrine system, Cryptorchid...	ORPHA:438213
Lethal Kniest-Like Dysplasia	Protuberant abdomen, Cleft palate	ORPHA:2347
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves	ORPHA:282166
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Abdominal distention, Sepsis, Microcolon	OMIM:619362
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue	ORPHA:53351
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Abdominal distention, Pulmonary hypoplasia, Anal atresia	OMIM:271520
Fontaine Progeroid Syndrome	Redundant skin, Synophrys, Low anterior hairline, Coarse hair, Recurrent aspiration pneumonia, Tr...	OMIM:612289
Adrenocortical Carcinoma	Increased urinary cortisol level, Adrenocorticotropic hormone deficiency, Increased body weight, ...	ORPHA:1501
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo...	ORPHA:2232
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Ane Syndrome	Alopecia	ORPHA:157954
Distal Deletion 12Q	Late onset atopic dermatitis, Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabet...	ORPHA:96149
Atelosteogenesis, Type I	Cryptorchidism, Protuberant abdomen, Cleft palate	OMIM:108720
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Achondrogenesis, Type Ii	Protuberant abdomen, Cleft palate	OMIM:200610
Primary Fanconi Renotubular Syndrome	Pulmonary fibrosis	ORPHA:3337
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Perry Syndrome	Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest	OMIM:168605
Williams Syndrome	Elevated circulating creatine kinase concentration, Myocardial infarction, Cardiomegaly, Rectal p...	ORPHA:904
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st...	OMIM:615067
Orofaciodigital Syndrome Ix	High palate, Recurrent aspiration pneumonia, Cleft palate, Camptodactyly	OMIM:258865
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Abdominal pain	ORPHA:293807
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian n...	ORPHA:440437
Adams-Oliver Syndrome 1	Alopecia, Cutis marmorata, Supernumerary nipple, Pulmonary artery stenosis, Hypertension, Small n...	OMIM:100300
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Mowat-Wilson Syndrome	Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Flexion contracture, Vomiting, Bifid u...	ORPHA:2152
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Small intestinal dysmotility, Apnea, Feeding difficulties, Sinus bradycardia, Ch...	OMIM:619482
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia	ORPHA:71273
Weill-Marchesani Syndrome 2	Congestive heart failure, Elbow flexion contracture, Narrow palate, Mitral regurgitation, High pa...	OMIM:608328
Opitz Gbbb Syndrome	Enlarged ovaries, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Cryptorchidis...	ORPHA:2745
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Moderate albuminuria, Dehydration, Weight loss...	ORPHA:99885
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresia, Cleft pal...	OMIM:115470
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary norepinephrine level, Elevated urina...	ORPHA:29072
Autosomal Recessive Robinow Syndrome	Recurrent respiratory infections, Alopecia, Long eyelashes, Fingernail dysplasia, Chronic otitis ...	ORPHA:1507
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Cleft hard palate, Flexion contracture, Abnormality of the pulmonary artery, Bifid uvul...	ORPHA:261537
6Q Terminal Deletion Syndrome	Hyperkeratosis, Low anterior hairline, Highly arched eyebrow	ORPHA:75857
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ...	ORPHA:144
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Intestinal malrotation, Conge...	ORPHA:2255
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ...	OMIM:186580
Knobloch Syndrome 2	Pyloric stenosis, Abnormal pulmonary interstitial morphology, Chronic constipation, Recurrent res...	OMIM:618458
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Recurrent urinary tract infections, Intestinal malrotation, Pne...	ORPHA:353281
Neu-Laxova Syndrome 2	Protuberant abdomen, High palate, Cleft palate	OMIM:616038
8P23.1 Microdeletion Syndrome	Hypospadias, Cryptorchidism, Pulmonary artery stenosis, Obesity, Weight loss	ORPHA:251071
Vascular Ehlers-Danlos Syndrome	Alopecia, Telangiectasia of the skin, Redundant skin, Transient ischemic attack, Abnormality of h...	ORPHA:286
Cerebrotendinous Xanthomatosis	Abnormal circulating enzyme concentration or activity, Abnormal lung morphology, Chronic diarrhea...	ORPHA:909
Unilateral Polymicrogyria	Apnea, Epistaxis, Pulmonary arteriovenous malformation, Pseudobulbar paralysis, Abnormal posturin...	ORPHA:268943
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Low anterior hairline, Narrow palate, Cleft palate, Fe...	ORPHA:79500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Intestinal malrotation, Pne...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Recurrent urinary tract infections, Intestinal malrotation, Pne...	ORPHA:353277
Miller-Dieker Lissencephaly Syndrome	Polyhydramnios, Cryptorchidism, Pelvic kidney, Failure to thrive, Recurrent aspiration pneumonia	OMIM:247200
Aspartylglucosaminuria	Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Acne, Vacuolated lymphocy...	OMIM:208400
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Goiter	OMIM:188580
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Diabetes mellitus,...	ORPHA:2237
Baller-Gerold Syndrome	Erythema	OMIM:218600
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Goiter	OMIM:613239
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno...	ORPHA:2388
Liposarcoma	Abnormality of the kidney, Weight loss	ORPHA:69078
Fatal Familial Insomnia	Urinary retention, Apnea, Weight loss	OMIM:600072
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Cleft hard palate, Flexion contracture, Abnormality of the pulmonary artery, Bifid uvul...	ORPHA:261552
Familial Glucocorticoid Deficiency	Recurrent urinary tract infections, Renal salt wasting, Cryptorchidism, Testicular adrenal rest t...	ORPHA:361
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Decrea...	ORPHA:556955
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen...	ORPHA:652
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema...	ORPHA:79
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Curly hair, Unilateral lung agenesis, Feeding difficult...	OMIM:617140
Atresia Of Urethra	Abdominal distention, Recurrent urinary tract infections, Pulmonary insufficiency, Ascites	ORPHA:105
Cowden Syndrome	Palmoplantar keratoderma, Generalized hyperkeratosis, Mucosal telangiectasiae	ORPHA:201
Blomstrand Lethal Chondrodysplasia	Pulmonary hypoplasia, Protuberant abdomen, Protruding tongue	ORPHA:50945
Wolf-Hirschhorn Syndrome	Accessory spleen, Decreased muscle mass, Highly arched eyebrow, Precocious puberty, Cryptorchidis...	OMIM:194190
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Pulmonary arterial hypertension, Alopecia, Aortic valve stenosis	ORPHA:2396
Oromandibular Dystonia	Respiratory distress, Weight loss	ORPHA:93958
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Acne, Frontal balding, Renal salt wasting, Long penis, Hirsutism, Testicular adrenal rest tumor, ...	ORPHA:90794
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Autosomal Dominant Robinow Syndrome	Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi...	ORPHA:3107
Trisomy 10P	Absent gallbladder, Decreased muscle mass, High palate, Rectovaginal fistula, Gastroesophageal re...	ORPHA:171929
Trichotillomania	Alopecia	OMIM:613229
Norrie Disease	Cryptorchidism, Failure to thrive, Cachexia	ORPHA:649
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Maturity-onset diabetes of the young, Abnormali...	OMIM:137920
Woodhouse-Sakati Syndrome	Sparse hair, Abnormal T-wave, Alopecia, Fine hair	OMIM:241080
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Low posterior hai...	OMIM:617925
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Dyspnea, Loss of eyelashes, Respiratory failure, Thin eyebrow, Sparse hair	ORPHA:2636
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer...	OMIM:618500
Pyknoachondrogenesis	Abdominal distention, Muscular edema	ORPHA:3003
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Enlarged pituitary gland, Elevated circulating growth hormone concentrati...	ORPHA:91347
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Weight loss, Small for gestational age, Thyroid hyperplasia	ORPHA:424
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Diabetes mellitus, Intestinal malrotation, Congenital diaphragmatic hernia, P...	OMIM:600001
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Decreased level of plasminogen, Periodontitis, Abnormality of the ovary	ORPHA:722
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Respiratory insufficiency, Weight loss	OMIM:607459
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Craniofacioskeletal Syndrome	Absent gallbladder, Cleft palate, Cryptorchidism	OMIM:300712
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Familial Gestational Hyperthyroidism	Goiter, Weight loss, Thyroid hyperplasia	ORPHA:99819
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Alopecia	OMIM:619321
Thyrotoxic Periodic Paralysis	Decreased urinary potassium, Obesity, Weight loss, Urinary retention, Respiratory paralysis	ORPHA:79102
Yunis-Varon Syndrome	Sparse scalp hair, Redundant neck skin, Absent nipple, Sparse eyelashes, Sparse eyebrow, Palmopla...	OMIM:216340
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Multiple Osteochondromas	Intestinal obstruction, Pneumothorax, Arthritis, Dysphagia, Hemothorax	ORPHA:321
Hereditary Late-Onset Parkinson Disease	Spastic/hyperactive bladder, Weight loss	ORPHA:411602
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ankle flexion contracture, Cryptorchidism, Biliary tract abnormality, Elbow fle...	OMIM:268300
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
Peters-Plus Syndrome	Bilobate gallbladder, Diastasis recti, Feeding difficulties in infancy, Cryptorchidism, Biliary t...	OMIM:261540
Ring Chromosome 13 Syndrome	Alopecia, Hypoplasia of the gallbladder, High palate, Primary hypothyroidism, Anal atresia	ORPHA:96176
Vaginal Atresia	Cervicitis, Abdominal mass, Pelvic mass, Abdominal pain, Primary amenorrhea	ORPHA:65681
Steinfeld Syndrome	Absent gallbladder, Bifid uvula, Median cleft lip and palate	OMIM:184705
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder	ORPHA:3186

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 Relb

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 Relb.

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

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
Relb^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Relb^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Relb^{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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