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Gene: Tom1l2 MGI:2443306

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
target of myb1-like 2 (chicken)
Synonyms:
A730055F12Rik,  2900016I08Rik,  myb1-like protein 2

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 Tom1l2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tom1l2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Skin rash, Eczema, Cutaneous T-cell lymphoma, Abnormal eyelid morphology,... ORPHA:2584
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Erythematous macule, Generalize... OMIM:615559
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... ORPHA:217390
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Lymphoma, Bronchiectasis... OMIM:240500
X-Linked Agammaglobulinemia
Sinusitis, Sepsis, Glossoptosis, Neoplasm, Conjunctivitis, Neutropenia, Chronic otitis media, Men... ORPHA:47
Tularemia
Abnormal nasopharyngeal adenoid morphology, Oral ulcer, Conjunctivitis, Otitis media, Conjunctiva... ORPHA:3392
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Indurated nodule, Skin nodule, ... ORPHA:542592
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent viral infections, Severe varicella zoster infection, Decreased proportion of CD4-positi... OMIM:300853
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Oral ulcer, Recurrent candida infections, T lymphocytopenia, Increase... ORPHA:169154
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Raynaud phenomenon, Skin ulc... ORPHA:90280
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... OMIM:614700
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen... OMIM:607594
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Ollier Disease
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Subcutaneous nodule, Skin ulcer, Multi... ORPHA:296
Omenn Syndrome
Hepatomegaly, Alopecia, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Lymphoma, ... ORPHA:39041
Cowden Syndrome 1
Skin tags, Micrognathia, Hypoplasia of the maxilla, Hamartomatous polyposis, High palate, Transit... OMIM:158350
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Anor... ORPHA:507
Sézary Syndrome
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Pruritus, Splen... ORPHA:3162
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Ovarian neopla... ORPHA:2221
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Recurrent viral infections, Oral ulcer, Gingivitis, Periodontitis, Neutropenia, ... ORPHA:486
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... OMIM:150550
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infe... OMIM:619437
Prolidase Deficiency
Hepatomegaly, Eczema, Micrognathia, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Recur... OMIM:170100
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Skin ulcer, Decr... ORPHA:33355
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Paronychia, Subcutaneous nodule, Abnor... ORPHA:228119
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... ORPHA:443811
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Neo... ORPHA:1775
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Conical tooth, Increased T cell count, Increased circulating IgG level, Inflammation of the large... ORPHA:98813
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, He... OMIM:618982
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Conjunctiviti... OMIM:603552
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Oral ulcer, Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneu... OMIM:615688
Autosomal Dominant Hyper-Ige Syndrome
Paronychia, Gingivitis, Skin vesicle, Chronic otitis media, Dystrophic fingernails, Papule, Skin ... ORPHA:2314
Fanconi Anemia, Complementation Group S
Epicanthus, Macrodontia, Low anterior hairline, Dental malocclusion, Breast carcinoma, Ovarian ne... OMIM:617883
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Scaling skin, A... OMIM:606367
Immunodeficiency 24
Decreased circulating IgG level, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Recurrent... OMIM:615897
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Chronic oral candidiasis, Recurrent herpes, Pneumonia, Eosinophi... ORPHA:169160
Selective Igm Deficiency
Fasciitis, Non-Hodgkin lymphoma, Recurrent herpes, Recurrent staphylococcal infections, Lymphaden... ORPHA:331235
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Oral ulcer, Ch... OMIM:608971
Birt-Hogg-Dubé Syndrome
Skin tags, Pneumothorax, Multiple lipomas, Renal cell carcinoma, Pulmonary sequestration, Parathy... ORPHA:122
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Pruritus, Abnormality of the spleen, Lymphadenopathy, ... ORPHA:79456
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
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Congestive heart failure, Subcutaneous nodule, Ovarian neoplasm, Excessive... ORPHA:137608
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin... ORPHA:33110
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Erythema, Skin ulcer, Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... ORPHA:906
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Prolidase Deficiency
Hepatomegaly, Recurrent cystitis, Aplasia/Hypoplasia of the skin, Recurrent respiratory infection... ORPHA:742
Alpha-Mannosidosis
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Cataract, Corneal opacity, Recurr... ORPHA:61
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Pruritus... ORPHA:36412
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Lymphoma, Bronchiectasis, Lymphadenopat... OMIM:619126
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Schöpf-Schulz-Passarge Syndrome
Alopecia, Premature loss of primary teeth, Ovarian neoplasm, Squamous cell carcinoma, Basal cell ... ORPHA:50944
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Arthritis, T lympho... OMIM:601457
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Poikiloderma With Neutropenia
Micrognathia, Leukopenia, Conjunctivitis, Neutropenia, Sparse eyebrow, Recurrent bronchopulmonary... OMIM:604173
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Myelodysplasia, Absence of lymph node germinal center... OMIM:608184
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Refractory anemia with ringed sideroblasts, Pallor, Neutropenia, Erythroid hyp... ORPHA:75564
Acquired Purpura Fulminans
Macule, Erythematous macule, Shock, Skin rash, Pyoderma gangrenosum, Sepsis, Intracranial hemorrh... ORPHA:49566
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Elevated proport... OMIM:603909
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Inflammation of the large intestine, Neop... ORPHA:3243
Bare Lymphocyte Syndrome, Type I
Ectopia lentis, Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Recurren... OMIM:604571
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent viral infections, Squamous cell carcinoma, Increased circulating IgG level, Disseminate... OMIM:243700
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, B-cell lymphoma, Persistent CMV viremia, Splenomegaly, Recurrent... OMIM:616005
Werner Syndrome
Myocardial infarction, Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, N... ORPHA:902
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Fulminant hepatitis, Lymphocytosis, Neutropenia, Decreased circulating IgG level... OMIM:308240
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Pyoderma gangrenosum, Sterile arthritis, H... OMIM:604416
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Brain neoplasm, Pelvic m... ORPHA:370348
Immunodeficiency 46
Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Seps... OMIM:616740
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Breast carcinom... ORPHA:157798
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, ... ORPHA:91138
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Abnormality of thrombocyte... OMIM:612840
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormality of the skin, Recurrent ... ORPHA:499
Chronic Granulomatous Disease
Macule, Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Hyperme... ORPHA:379
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Sepsis, Neutropenia, Disseminated molluscum contagiosum, Bronchiectas... OMIM:614868
Cutaneous Neuroendocrine Carcinoma
Erythematous macule, Lymphoid leukemia, Brain neoplasm, Chronic noninfectious lymphadenopathy, Ne... ORPHA:79140
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Subcutaneous nodule, Gingival f... ORPHA:2028
Hereditary Progressive Mucinous Histiocytosis
Erythematous macule, Pruritus, Lymphadenopathy, Mucinous histiocytosis, Erythematous papule ORPHA:158025
Infantile Myofibromatosis
Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Abnormal sacrum morpholo... ORPHA:2591
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Skin ulcer, Inflammation of the large intestine, Atrophic scar... ORPHA:48104
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my... ORPHA:169090
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infect... OMIM:603554
Schnitzler Syndrome
Macule, Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphoma, Vasculitis, Lymp... ORPHA:37748
Ataxia-Telangiectasia
Recurrent respiratory infections, Aplasia/Hypoplasia of the skin, Ataxia, Abnormal testis morphol... ORPHA:100
Incontinentia Pigmenti
Uveitis, Orofacial cleft, Abnormal toenail morphology, Spina bifida occulta, Infectious encephali... ORPHA:464
Felty Syndrome
Sinusitis, Subcutaneous nodule, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte mo... ORPHA:47612
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Aplastic anemia, Hepatic necrosis, Premature graying of hair, Leukopenia, Sparse hai... OMIM:127550
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Inguinal hernia, Hypertelorism, Kyphosis, Repetitive compulsive behavior, Periauri... ORPHA:352490
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Inflammation of the large intestine, Hepatic fibrosis, Vesicoureteral reflux, Hepa... OMIM:615895
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Cryptorchidism, Polycystic ova... ORPHA:3085
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymph... ORPHA:3261
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Pallor, Hyperplas... ORPHA:231226
Mulibrey Nanism
Hepatomegaly, Dental crowding, Corneal dystrophy, Cardiomegaly, Absent frontal sinuses, Congestiv... OMIM:253250
Free Sialic Acid Storage Disease
Hepatomegaly, Recurrent respiratory infections, Ataxia, Splenomegaly, Skin ulcer, Athetosis, Gait... ORPHA:834
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Sepsis, Recurrent cutaneous... ORPHA:477
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Recurrent respiratory... OMIM:614470
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Cataract, Epidermal nevus, Exostoses, Splenomega... ORPHA:2969
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Skin ulcer, Squamous cell carcinoma, Basal cell carcinoma, Papule ORPHA:409
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Bronchiectasis, De... OMIM:193670
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Hydrocephalus, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, ... OMIM:618709
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Atypical Teratoid Rhabdoid Tumor
Malignant neoplasm of the central nervous system, Irritability, Hydrocephalus, Ataxia ORPHA:99966
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Ventriculomegaly, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia... OMIM:304790
Griscelli Syndrome, Type 2
Silver-gray hair, Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocytosis, Melanin p... OMIM:607624
Blepharophimosis-Impaired Intellectual Development Syndrome
Synophrys, Low anterior hairline, Short philtrum, Low frustration tolerance, Widely spaced teeth,... OMIM:619293
Lymphoproliferative Syndrome 2
Aplastic anemia, Severe varicella zoster infection, Oral ulcer, Uveitis, Sepsis, Hepatomegaly, EB... OMIM:615122
Specific Granule Deficiency 2
Absent neutrophil specific granules, Myelodysplasia, Conical tooth, Thrombocytopenia, Recurrent p... OMIM:617475
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, ... OMIM:619164
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer, Arth... ORPHA:231
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... ORPHA:289390
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hypertelorism, Hydrocephalus, Flexion contracture, Recurrent infections, Scoliosis,... OMIM:300884
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Persis... OMIM:620282
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ... ORPHA:397596
Progeria-Short Stature-Pigmented Nevi Syndrome
Thoracic scoliosis, Selective tooth agenesis, Microcytic anemia, Micrognathia, Recurrent viral in... ORPHA:2959
Trichothiodystrophy
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, High, narrow palate, Squamous cel... ORPHA:33364
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Skin nodule, Vasculitis, Conjunctivitis, Cerebral ... ORPHA:26137
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Uveitis, Abnormal palate morphol... ORPHA:575
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Increased circulating ... OMIM:618048
Chromomycosis
Erythematous macule, Keratitis, Pruritus, Subcutaneous nodule, Verrucous papule, Hypopigmented sk... ORPHA:182
1Q21.1 Microduplication Syndrome
Cataract, Hypospadias, Hypertelorism, Cryptorchidism, Hydrocephalus, Attention deficit hyperactiv... ORPHA:250994
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Pruritus, Hypopigmented skin patches, Hepatitis, Skin u... ORPHA:525
Zimmermann-Laband Syndrome
Short neck, Micrognathia, High palate, Absent fingernail, Bifid uvula, Hepatomegaly, Abnormal ext... ORPHA:3473
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Sepsis, Leukopenia, Conjunctivitis, Thoracic kyphosis, Decreased circulating IgG leve... ORPHA:505248
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Ab... ORPHA:210110
Drug Reaction With Eosinophilia And Systemic Symptoms
Macule, Renal insufficiency, Skin rash, Eosinophilia, Cardiac arrest, Pustule, Myocarditis, Enant... ORPHA:139402
Mantle Cell Lymphoma
Splenomegaly, B-cell lymphoma, Anorexia, Lymphadenopathy ORPHA:52416
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Pallor, Decreased proportion of... ORPHA:331206
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
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Hypertelorism, Short neck, Recurrent upper respiratory tract inf... ORPHA:284180
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Skin rash, Maculopapular exanthema, Thrombocytopenia, Splenomegaly, Jaundice, Neutr... ORPHA:540
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... OMIM:300755
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, ... OMIM:613179
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Severe varicella zoster infection, Hodgkin lymphoma, Hepatosplenome... OMIM:618261
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Gingivitis... ORPHA:2968
Rhabdoid Tumor
Renal neoplasm, Subcutaneous nodule, Lymphadenopathy, Anemia, Neoplasm of the liver, Neoplasm of ... ORPHA:69077
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Skin ulcer, Lymphadenopath... ORPHA:69126
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstructio... OMIM:613490
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Myelodysplasia OMIM:162830
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Recurrent infections, Progressive loss of facial adipose tissue, Loss of trun... OMIM:608709
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Salivary gland neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, A... ORPHA:79493
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Re... OMIM:617591
Takayasu Arteritis
Increased inflammatory response, Hypertensive crisis, Anorexia, Myocardial infarction, Subcutaneo... ORPHA:3287
Microcephaly 5, Primary, Autosomal Recessive
Ventriculomegaly, Proptosis, Attention deficit hyperactivity disorder OMIM:608716
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Epidermodysplasia Verruciformis, Susceptibility To, 4
Disseminated cutaneous warts, Burkitt lymphoma, Facial erythema, Emphysema, Increased proportion ... OMIM:618307
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Juvenile rheumatoid arthritis, Abnormal la... ORPHA:1855
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hep... OMIM:102700
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, CSF pleocytosis, Increased CSF interfer... OMIM:615010
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... ORPHA:90186
Generalized Eruptive Histiocytosis
Erythematous macule, Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Leuke... ORPHA:157991
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Xp22.3 Microdeletion Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism, Polycystic ovaries,... ORPHA:1643
Atelis Syndrome 1
Cataract, Eczema, Carious teeth, Thrombocytopenia, Bronchiectasis, Lumbar kyphosis, Recurrent inf... OMIM:620184
Beta-Thalassemia Major
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Pallor, Hyperplasia of the maxi... ORPHA:231214
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu... ORPHA:293173
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Recurrent urinary tract infections, Skin rash, Abnormal dental ... ORPHA:1334
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Naevus flammeus of the eyelid, Capillary hemangioma ORPHA:2703
Proteus Syndrome
Epidermal nevus, Kyphoscoliosis, Splenomegaly, Facial hyperostosis, Mandibular hyperostosis, Spin... OMIM:176920
Kleeblattschaedel
Hydrocephalus, Proptosis, Recurrent corneal erosions OMIM:148800
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Macule, Fasciitis, Pericarditis, Myositis, Skin rash, Hypermelanotic macule, Orchitis, Splenomega... ORPHA:32960
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis, Lymphadenopathy OMIM:617772
Cardiofaciocutaneous Syndrome 1
Numerous nevi, Short neck, Micrognathia, Deep philtrum, High palate, Sparse hair, Absent eyebrow,... OMIM:115150
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Muckle-Wells Syndrome
Renal insufficiency, Maculopapular exanthema, Leukocytosis, Conjunctivitis, Recurrent aphthous st... OMIM:191900
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati... ORPHA:231222
Immunodeficiency 10
Kaposi's sarcoma, Autoimmune hemolytic anemia, Lymphadenopathy, Hypoplasia of the iris, Recurrent... OMIM:612783
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Cataract, Oral mucosal blisters, Narrow mouth, Corneal scarring, Squamous cell carcinom... OMIM:226600
Mirage Syndrome
Recurrent urinary tract infections, Petechiae, Hypospadias, Myelodysplasia, Hypergonadotropic hyp... OMIM:617053
Acrogeria
Aplasia/Hypoplasia of the skin, Lipoatrophy, Skin ulcer, Excessive wrinkled skin, Thin skin, Scol... ORPHA:2500
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... ORPHA:100026
Familial Pancreatic Carcinoma
Back pain, Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic cholestasis, Lymphadenopat... ORPHA:1333
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Abnormal pupil morphol... ORPHA:534
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Laryngeal papilloma, Increased circulating IgA level, ... OMIM:617388
Hajdu-Cheney Syndrome
Short neck, Absent frontal sinuses, Micrognathia, Synophrys, Low anterior hairline, Downturned co... ORPHA:955
Cyclic Neutropenia
Premature loss of permanent teeth, Sinusitis, Oral ulcer, Gingivitis, Sepsis, Periodontitis, Otit... ORPHA:2686
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Nephrotic range proteinuria, ... OMIM:613496
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic der... OMIM:603165
Immunodeficiency 102
Severe varicella zoster infection, Sepsis, Leukopenia, Decreased circulating IgG level, Hepatomeg... OMIM:301082
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Glioblastoma multiforme, Ben... ORPHA:440437
Zika Virus Disease
Maculopapular exanthema, Skin rash, Abnormal cerebrospinal fluid morphology, Pruritus, Thrombocyt... ORPHA:448237
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hyperactivity, Cataract, Recurrent respiratory infections ORPHA:85288
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, P... ORPHA:3260
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus, Neoplasm ORPHA:2807
Lymphangioleiomyomatosis
Cough, Emphysema, Ungual fibroma, Macule, Renal neoplasm, Atelectasis, Lymphadenopathy, Restricti... ORPHA:538
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Aphthous ulcer, Uveitis, Arthritis, Conjunctivitis, Renal amyloidosis OMIM:120100
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax, Bronchiectasis, A... OMIM:612387
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous... ORPHA:822
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hematolo... ORPHA:98850
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertension, He... ORPHA:824
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Everted upper lip vermilion, Splenomegaly, Decreased proportion of CD8-positive, al... OMIM:619824
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Meningitis, Increased circula... OMIM:212050
Aicardi-Goutieres Syndrome 3
CSF lymphocytic pleiocytosis, Chilblains, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Lipoatrophy, Polycystic ovaries, Xanthomatosis, Hepatic steatosis, Pancreatitis ORPHA:79084
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
De Barsy Syndrome
Recurrent sinopulmonary infections, Inguinal hernia, Cataract, Corneal opacity, Lipodystrophy, Ky... ORPHA:2962
Trichothiodystrophy 1, Photosensitive
Brittle hair, Squamous cell carcinoma, Microcornea, Sparse hair, Tiger tail banding, Decreased ci... OMIM:601675
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251636
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Inability to walk, Proptosis, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618492
Limited Cutaneous Systemic Sclerosis
Foot joint contracture, Hypopigmented skin patches, Skin ulcer, Pulmonary fibrosis, Dysphagia, Pu... ORPHA:220402
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Shigellosis
Anorexia, Sepsis, Uveitis, Hypovolemic shock, Conjunctivitis, Acute colitis, Abscess, Hemolytic-u... ORPHA:810
Dyskeratosis Congenita, X-Linked
Ridged nail, Oropharyngeal squamous cell carcinoma, Pterygium of nails, Squamous cell carcinoma, ... OMIM:305000
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... ORPHA:572
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node g... ORPHA:277
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Recurrent respiratory infections, Eczema, Oligoarthritis, Persis... OMIM:619510
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Increased circulat... ORPHA:99827
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, D... OMIM:307200
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Listeriosis
Back pain, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Con... ORPHA:533
Gray Platelet Syndrome
Epistaxis, Myelodysplasia, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Hereditary Acrokeratotic Poikiloderma
Abnormality of the urethra, Gingivitis, Squamous cell carcinoma, Dystrophic fingernails, Transiti... ORPHA:2907
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Depression, Ovarian cyst, Agitation, Thin skin, Emotional lability, Pancreatitis, Stria... OMIM:610475
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Alopecia, Recurrent skin infections, Corneal opacity, ... ORPHA:79396
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Smooth philtrum, Corneal opacity, Micrognathia, Keratitis, Synophrys, Wide mouth, Oligodontia, Co... OMIM:602562
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Redundant skin, Congenital diaphragmatic hernia ORPHA:171719
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Cerebrospinal fluid rhin... ORPHA:183675
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Mandibular prognathia, Microcytic anemia, Short neck, Deep philtrum, Recurrent pneumonia, Hepatos... OMIM:619750
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Short neck, Dyspnea, Gingival fibromatosis, Respiratory failure, Proptosis ORPHA:1832
Flynn-Aird Syndrome
Cataract, Ataxia, Kyphosis, Skin ulcer, Dermal atrophy, Scoliosis ORPHA:2047
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the skeletal system, Skin ulcer, Lymphadenopathy, Neoplasm of the lung, Neoplasm of t... ORPHA:424019
Cowden Syndrome 6
Skin tags, Cataract, Subcutaneous lipoma, Kyphosis, Fibroadenoma of the breast, Breast carcinoma,... OMIM:615109
Legius Syndrome
Neoplasm of the central nervous system, Multiple lipomas, Male urethral meatus stenosis, Hyperact... ORPHA:137605
Chilblain Lupus 1
Raynaud phenomenon, Abnormality of the nail, Chilblains, Skin ulcer OMIM:610448
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Giant Cell Arteritis
Pericarditis, Alopecia, Renal insufficiency, Abnormality of thrombocytes, Anorexia, Sudden cardia... ORPHA:397
Proteus Syndrome
Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Subcutaneous nodule, Abnormal ... ORPHA:744
Trimethylaminuria
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Depression, Hypertension, Neut... OMIM:602079
Blau Syndrome
Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Abnormal saliv... ORPHA:90340
Systemic Lupus Erythematosus 17
Lymphopenia, Alopecia, Hypertensive crisis, Autoimmune thrombocytopenia, Raynaud phenomenon, Thro... OMIM:301080
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Verrucous Hemangioma
Inflammatory abnormality of the skin, Skin plaque, Papilloma, Hemangioma, Hyperkeratotic papule ORPHA:464318
Immunodeficiency 58
Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ... OMIM:618131
Babesiosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Anorexia, Myocardial infarction, Splenomegal... ORPHA:108
Epidermodysplasia Verruciformis, Susceptibility To, 5
Persistent human papillomavirus infection, Cryptococcal meningitis, T lymphocytopenia, Squamous c... OMIM:618309
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections,... OMIM:615285
Takenouchi-Kosaki Syndrome
Synophrys, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Hypospadias, Highly ... OMIM:616737
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Cystic Echinococcosis
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B... ORPHA:400
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepa... ORPHA:809
Basal Cell Nevus Syndrome 1
Skin tags, Mandibular prognathia, Rhabdomyoma, Palmar pits, Plantar pits, Hemivertebrae, Cardiac ... OMIM:109400
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Hydrocephalus, Ging... ORPHA:1008
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Gastr... ORPHA:1572
Hypophosphatasia
Respiratory insufficiency, Irritability, Skin dimple, Skin dimple over apex of long bone angulati... ORPHA:436
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Maculo... OMIM:619644
Noonan Syndrome 12
Ventriculomegaly, Decreased response to growth hormone stimulation test, Atopic dermatitis, Spina... OMIM:618624
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Cutis laxa OMIM:614100
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Abnormality of the dentition, Bilateral ptosis, Recurrent infections,... OMIM:620040
Dermatomyositis
Abnormal eosinophil morphology, Myocardial infarction, Abnormal eyelid morphology, Neoplasm, Abno... ORPHA:221
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Persistence of primary teeth, Recurr... OMIM:147060
Kaposi Sarcoma
Macule, Recurrent herpes, Generalized lymphadenopathy, Skin rash, Hypermelanotic macule, Lymphopr... ORPHA:33276
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Non-Epidermolytic Palmoplantar Keratoderma
Papule, Erythema, Skin ulcer ORPHA:2337
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Monosomy 22
Epicanthus, Aplasia of the thymus, Seborrheic dermatitis, Short neck, Open mouth, Synophrys, Schw... ORPHA:96123
Kawasaki Disease
Abnormality of nail color, Sterile pyuria, Conjunctivitis, Cholecystitis, Meningitis, Recurrent p... ORPHA:2331
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... ORPHA:280356
Lynch Syndrome
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Benign neoplasm of ... ORPHA:144
Sandhoff Disease
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Kyphosis, Congestive heart failure,... ORPHA:796
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Papule, Histiocytosis ORPHA:157997
Microscopic Polyangiitis
Sinusitis, Subcutaneous nodule, Uveitis, Glomerulopathy, Vasculitis, Oliguria, Skin ulcer, Episcl... ORPHA:727
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Cowden Syndrome 5
Skin tags, Cataract, Subcutaneous lipoma, Kyphosis, Breast carcinoma, Hamartomatous polyposis, Ov... OMIM:615108
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pustule, Pruritus, Neoplasm, Erythroderma, Abnormal oral cavity... ORPHA:2897
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin, ... ORPHA:1114
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Follicular hyperplasia, Or... ORPHA:556
Schimke Immuno-Osseous Dysplasia
Short neck, Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordo... ORPHA:1830
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Anorexia, Pruritus, Splenomegaly, Lymphoma, Breast carcinoma, Lymp... ORPHA:86893
Griscelli Syndrome
Encephalocele, Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal ey... ORPHA:381
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Myelodysplasia, Recurrent viral infections, B lymphocytopenia, Re... OMIM:614172
Immunodeficiency With Hyper-Igm, Type 1
Oral ulcer, Gingivitis, Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG... OMIM:308230
Toxic Epidermal Necrolysis
Macule, Recurrent respiratory infections, Renal insufficiency, Entropion, Gastrointestinal hemorr... ORPHA:537
Infantile Sialic Acid Storage Disease
Hepatomegaly, Epicanthus, Fair hair, Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lympho... OMIM:269920
Boutonneuse Fever
Macule, Renal insufficiency, Skin rash, Maculopapular exanthema, Thrombocytopenia, Skin nodule, C... ORPHA:83313
Netherton Syndrome
Sparse scalp hair, Recurrent respiratory infections, Brittle hair, Recurrent skin infections, Ecz... OMIM:256500
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... ORPHA:659
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Lymphadenopathy, ... OMIM:613101
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Kyphosis, Dental malocclusion, Horner syndro... OMIM:141300
Spastic Paraplegia 18B, Autosomal Recessive
Inability to walk, Kyphosis, Gait disturbance, Scoliosis, Joint contracture OMIM:611225
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Rec... OMIM:610163
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Gait disturbance, Acral ulceration, Skin ulcer ORPHA:139578
Mcdonough Syndrome
Mandibular prognathia, Micrognathia, Open bite, Cryptorchidism, Synophrys, Kyphosis, Dental maloc... ORPHA:2471
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Acne, Recurrent skin infections, Ap... OMIM:300635
Proliferating Trichilemmal Cyst
Epidermoid cyst, Skin ulcer ORPHA:492
Immunodeficiency 23
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... OMIM:615816
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Lumbar hyperlordosis, Dental malocclusion, Spotty hypopigmentation, Ato... OMIM:619719
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Cataract, Skin ulcer, Telangiectasia, Interstitial pneumoni... ORPHA:454831
Donohue Syndrome
Hypermelanotic macule, Precocious puberty, Adipose tissue loss, Long penis, Cholestasis, Recurren... OMIM:246200
Pachydermoperiostosis
Abnormal hair quantity, Hepatomegaly, Gastrointestinal hemorrhage, Osteomyelitis, Acne, Abnormal ... ORPHA:2796
Pineocytoma
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251912
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Spinal rigidity, Hyperlordosis, Kyphosis, Increased adipose tissue, Respiratory insuffi... OMIM:617404
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Micrognathia, High palate, Alopecia, Bronchiectasis, Spinal canal stenosis, Methicillin-resistant... OMIM:618282
Hermansky-Pudlak Syndrome 2
Albinism, Periodontitis, Recurrent abscess formation, Neutropenia, Hepatomegaly, Decreased CD4:CD... OMIM:608233
Short Syndrome
Rieger anomaly, Cataract, Inguinal hernia, Lipodystrophy, Lipoatrophy, Absence of subcutaneous fa... OMIM:269880
Congenital Erythropoietic Porphyria
Anisocytosis, Scarring alopecia of scalp, Red-brown urine, Squamous cell carcinoma, Leukopenia, E... ORPHA:79277
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder, Restrictive card... OMIM:607685
Central Precocious Puberty In Male
Astrocytoma, Abnormality of the testis size, Craniopharyngioma, Aggressive behavior, Pituitary mi... ORPHA:649929
Netherton Syndrome
Sparse scalp hair, Recurrent respiratory infections, Skin rash, Sparse eyelashes, Eczema, Ectopic... ORPHA:634
Tetralogy Of Fallot
Preauricular pit, Cryptorchidism, Proptosis ORPHA:3303
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Genital ulcers, Oral ulcer, BCGitis, Sepsis, Otitis media, Hepatomeg... OMIM:602450
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Cervical... OMIM:142680
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly, Erythematous plaque, Panniculitis, Hemophagocytosis, Erythematous... ORPHA:86884
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Myocardial infarction, Mesangial hypercellularity, Parap... ORPHA:91139
Cdkl5-Deficiency Disorder
Kyphosis, Abnormal respiratory system physiology, Deeply set eye, Gait disturbance, Inappropriate... ORPHA:505652
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Scarring alopecia of scalp, Cari... OMIM:612843
Intellectual Developmental Disorder, Autosomal Dominant 26
Hyperactivity, Inguinal hernia, Hypertelorism, Kyphosis, Proptosis, Scoliosis, Umbilical hernia, ... OMIM:615834
Lamellar Ichthyosis
Recurrent respiratory infections, Renal insufficiency, Abnormality of the dentition, Pruritus, La... ORPHA:313
Agel Amyloidosis
Tongue atrophy, Cataract, Proteinuria, Orthostatic hypotension due to autonomic dysfunction, Prur... ORPHA:85448
Mucopolysaccharidosis-Plus Syndrome
Short neck, Synophrys, Low anterior hairline, Sepsis, Leukopenia, Coarse hair, Macrovesicular hep... OMIM:617303
Granulomatosis With Polyangiitis
Sinusitis, Granulomatosis, Otitis media, Abnormal oral cavity morphology, Chronic otitis media, M... ORPHA:900
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia,... OMIM:226990
Kikuchi-Fujimoto Disease
Erythematous macule, Generalized lymphadenopathy, Anorexia, Oral ulcer, Leukopenia, Lymphocytosis... ORPHA:50918
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Scoliosis, Proptosis, Corneal opacity, Abnormal form of the vertebral bodies ORPHA:2370
Noonan Syndrome 4
Curly hair, Epicanthus, Ureteral duplication, Short neck, Sparse eyebrow, Bilateral ptosis, Crypt... OMIM:610733
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Kyphosis, Cryptorchidi... OMIM:615381
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy, Increased circulating IgM level, Recurrent bacterial infections, R... OMIM:608106
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Hypertelorism, Kyphosis, Scoliosis, Bruxism OMIM:300434
Caspase 8 Deficiency
Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab... OMIM:607271
Kindler Epidermolysis Bullosa
Urethral stricture, Gingivitis, Squamous cell carcinoma, Inflammation of the large intestine, Col... ORPHA:2908
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Thoracic scoliosis, Cataract, Microcornea, Proptosis, Lumbar scoliosis OMIM:616171
Generalized Pustular Psoriasis
Renal insufficiency, Pustule, Congestive heart failure, Leukocytosis, Cheilitis, Uveitis, Sepsis,... ORPHA:247353
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, External genital hypoplasi... OMIM:615993
Tetralogy Of Fallot
Preauricular pit, Proptosis OMIM:187500
Cockayne Syndrome Type 2
Mandibular prognathia, Hepatomegaly, Hypermelanotic macule, Delayed eruption of primary teeth, Cr... ORPHA:90322
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Myelodysplasia, Neutropenia OMIM:610738
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the pancreas, Abnormality of the spleen, Abnormality ... ORPHA:543
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Eczema, Thrombocytopenia, Decreased circulating antibody level,... OMIM:618116
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Cataract, Recurrent skin infections, Ectropio... ORPHA:33001
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent resp... OMIM:620210
Cernunnos-Xlf Deficiency
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... ORPHA:169079
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Kyphoscoliosis, Aggressive behavior, Anorexia, Abnormal fear-ind... ORPHA:3077
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Oral ulcer, Sepsis, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia,... OMIM:612541
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Myelodysplasia, Portal hypertension, Thrombocytopenia, Cryptorchidism, Squamous cell carcinoma of... OMIM:620365
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Chronic infection, Thrombocytopen... ORPHA:520
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Plague
Chapped lip, Anorexia, Lymphadenitis, Sepsis, Acute infectious pneumonia, Inflammation of the lar... ORPHA:707
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Epicanthus, Cataract, Telecanthus, Pancytopenia, Hypoplasia of penis, Micrognathia... ORPHA:85321
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormality of the kidney, Myocardial infarction, Pulmonary embolism, Transient ... ORPHA:464343
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Subcutaneous nodule, Reticulocytopenia, Leukopenia, Neutropenia, Tricuspid regurgitation, Myelody... ORPHA:508542
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Recurrent aspiration ... ORPHA:79124
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Peeling Skin Syndrome 1
Brittle hair, Eosinophilia, Pruritus, Increased circulating IgE level, Onycholysis, Scaling skin,... OMIM:270300
Rudiger Syndrome
Inguinal hernia, Flexion contracture, Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Aplasia/Hypoplasia of the skin, Lipod... ORPHA:2348
Acrodermatitis Enteropathica
Glossitis, Abnormal eyebrow morphology, Alopecia, Ridged nail, Anorexia, Abnormal eyelid morpholo... ORPHA:37
Loeys-Dietz Syndrome 4
Inguinal hernia, Flat cornea, Hypertelorism, Pneumothorax, Deeply set eye, Scoliosis, Emphysema, ... OMIM:614816
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Familial Keratoacanthoma
Subcutaneous nodule, Skin ulcer, Neoplasm, Adenoma sebaceum, Papilloma, Papule ORPHA:493
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:618204
Coccidioidomycosis
Urticarial plaque, Abnormality of the spleen, Verrucous papule, Increased circulating IgG level, ... ORPHA:228123
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Hypertelorism ORPHA:1538
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Broad-based gait, Recurrent urinary tract infections, Self-injurious behavior, Deeply set eye, Pr... OMIM:618707
Carney Complex
Atypical nevi in non-sun exposed areas, Hepatocellular carcinoma, Thyroid carcinoma, Papillary th... ORPHA:1359
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Localized skin lesion, Gastrointestinal inflammation, Squam... ORPHA:79405
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... OMIM:613779
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Keratitis, Hypoplasia of the maxilla, Hydrocephalus, Conj... OMIM:123500
Gorlin Syndrome
Vertebral fusion, Cataract, Hypogonadotropic hypogonadism, Hypertelorism, Palmar pits, Cryptorchi... ORPHA:377
Bone Marrow Failure Syndrome 3
Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Downturned corners of mouth, Neu... OMIM:617052
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hemo... ORPHA:398124
Fanconi Anemia, Complementation Group G
Myelodysplasia, Anemia, Neutropenia, Multiple cafe-au-lait spots, Leukemia, Thrombocytopenia OMIM:614082
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, BCGosis, Hepatosplenomegaly, Thrombocytosis,... OMIM:618963
Cushing Disease
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Recurrent cutan... ORPHA:96253
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Gastrointestinal inflammation, Squamous cell carcinoma, Skin vesicle, Abnormal toenail morphology... ORPHA:79410
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Scarring alopecia of scalp... OMIM:602540
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Increased circulating IgM level, Recurrent bacterial infec... OMIM:606843
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Abnormality... ORPHA:2552
Indolent Systemic Mastocytosis
Hepatomegaly, Skin rash, Maculopapular exanthema, Hematological neoplasm, Pruritus, Splenomegaly,... ORPHA:98848
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Neutrophil nuclea... OMIM:245480
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Epicanthus, Pancytopenia, Ventriculomegaly, Unilateral renal agenesis, Splenomegaly... OMIM:614576
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Chronic infection, Supernumerary tooth, Dental malocclusi... ORPHA:83451
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom... OMIM:607616
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Cataract, Chronic active hepatitis, Female hypogonadism, ... OMIM:240300
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Alopecia, Autoimmune throm... ORPHA:227990
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Hydrocephalus, Elbow flexion contracture, A... OMIM:619470
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Dysgammaglobulinemia, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, A... ORPHA:100025
Rubinstein-Taybi Syndrome 2
Epicanthus, Hyperactivity, Highly arched eyebrow, Micrognathia, Carious teeth, Talon cusp, Hirsut... OMIM:613684
Roifman Syndrome
Thin upper lip vermilion, Biconvex vertebral bodies, Noncompaction cardiomyopathy, Hypogonadotrop... ORPHA:353298
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Cataract, Hypoplasia of the odontoid process, Platyspondyly, Pr... ORPHA:85172
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Pallor, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocyt... ORPHA:98849
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Meningitis, Skin ulcer ORPHA:1117
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... ORPHA:542643
Pemphigus Foliaceus
Psoriasiform dermatitis, Abnormal oral mucosa morphology, Hematological neoplasm, Pustule, Prurit... ORPHA:79481
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent Staphylococcus aureus infections, Recurrent abscess formatio... OMIM:613860
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Ankyloblepharon, Conjunctivit... OMIM:106260
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Tented upper lip vermilion, Synophrys, Downturned corners of mouth, Short philtrum, Widely spaced... ORPHA:487796
Axial Mesodermal Dysplasia Spectrum
Short neck, Micrognathia, Abnormality of the spleen, Hydrocephalus, Renal hypoplasia/aplasia, Abn... ORPHA:1834
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Epicanthus, Telecanthus, Sacral dimple, Highly arched eyebrow, Spina bifid... ORPHA:1327
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Hepatomegaly, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneum... OMIM:301078
O'Donnell-Luria-Rodan Syndrome
Aggressive behavior, Kyphosis, Cryptorchidism, Self-injurious behavior, Deeply set eye, Skin-pick... OMIM:618512
Porphyria, Congenital Erythropoietic
Absent eyebrow, Hemolytic anemia, Hepatomegaly, Alopecia, Erythrodontia, Splenomegaly, Jaundice, ... OMIM:263700
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Melanocytic nevus, Anemia... ORPHA:3319
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomeg... OMIM:209950
Cri-Du-Chat Syndrome
Short neck, Orofacial cleft, Premature graying of hair, Downturned corners of mouth, High palate,... OMIM:123450
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Synophrys, Dental malocclusion, Abnormal repe... OMIM:615541
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Reynolds Syndrome
Hepatomegaly, Skin rash, Telangiectasia of the skin, Pruritus, Jaundice, Skin ulcer, Arthritis, K... ORPHA:779
Avian Influenza
Pneumonia, Thrombocytopenia, Meningitis, Congestive heart failure, Hepatitis, Sepsis, Leukopenia,... ORPHA:454836
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Single lineage myelodysplasia, Anemia of inadequate produc... ORPHA:86839
Schimke Immunoosseous Dysplasia
Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Coarse hair, Thoracic kyphosis,... OMIM:242900
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Thrombocytopenia OMIM:209970
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Lymphadenopa... OMIM:605258
Roifman Syndrome
Hepatomegaly, Biconvex vertebral bodies, Thin upper lip vermilion, Noncompaction cardiomyopathy, ... OMIM:616651
Letterer-Siwe Disease
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Irritability, Pallor, Neut... OMIM:246400
Recon Progeroid Syndrome
Smooth philtrum, Prominence of the premaxilla, Dental crowding, Thrombocytopenia, Hirsutism, Hype... OMIM:620370
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Alopecia, Autoimmune hypop... ORPHA:227982
Distal 7Q11.23 Microduplication Syndrome
Benign neoplasm of the central nervous system, Congenital diaphragmatic hernia, Cryptorchidism, H... ORPHA:261102
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Recurrent herpes, Functional abnormality of the bladder, T... ORPHA:391487
Thanatophoric Dysplasia Type 2
Encephalocele, Redundant skin, Kyphosis, Hydrocephalus, Respiratory insufficiency, Aplasia/Hypopl... ORPHA:93274
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent respirat... OMIM:618495
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypertelorism, Cryptorchidism, Hydrocephalus, Proptosis, Scoliosis, Hypoplastic female external g... OMIM:618577
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Single lineage myelo... ORPHA:98826
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Corneal erosion, Hyd... ORPHA:87
Cowden Syndrome
Subcutaneous nodule, Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, A... ORPHA:201
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Perineal hemangioma, Congestive heart failure, Midfrontal capillary h... ORPHA:141179
Hereditary Sensory And Autonomic Neuropathy Type 1
Inability to walk, Penetrating foot ulcers, Skin ulcer, Steppage gait, Gait imbalance, Cough ORPHA:36386
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... ORPHA:51636
Mccune-Albright Syndrome
Precocious puberty, Hepatitis, Abnormal facial skeleton morphology, Renal phosphate wasting, Ovar... ORPHA:562
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... OMIM:300988
Amed Syndrome, Digenic
Acute myeloid leukemia, Telecanthus, Myelodysplasia, Anemia, Leukopenia, Hypoplasia of the uterus... OMIM:619151
Pycnodysostosis
Ridged nail, Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Mic... ORPHA:763
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Abnormal cerebrospinal fluid morphology, Subcutaneous nodule, Corneal perforation, Con... ORPHA:68
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Gómez-López-Hernández Syndrome
Hydrocephalus, Corneal opacity, Ataxia, Hypertelorism ORPHA:1532
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Kyphoscoliosis, Decreased circulating antibody level, Recurrent infections, Platysp... OMIM:617425
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Hypopigmented skin patches, Er... ORPHA:330064
Congenital Toxoplasmosis
Macule, Hepatomegaly, Ventriculomegaly, Cardiomegaly, Jaundice, Hydrocephalus, Lymphadenopathy, A... ORPHA:858
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Diffuse alveolar hemorrhage, Splenomegaly, Enterocolitis, Anemia, Reduce... OMIM:616050
Neurofibromatosis Type 1
Astrocytoma, Subcutaneous nodule, Multiple lipomas, Neoplasm, Pheochromocytoma, Heterochromia iri... ORPHA:636
Clouston Syndrome
Alopecia, Cataract, Sparse eyelashes, Brittle hair, Alopecia totalis, Slow-growing hair, Sparse e... OMIM:129500
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Recurrent aspiration pneumonia, Psoriasiform dermatitis, Recurrent ea... ORPHA:221139
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Corneal opacity, Thrombocytopenia, Abnormality of the liver, Ventriculomegaly ORPHA:1980
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Skin ulcer, Hepa... ORPHA:2072
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Tricuspid stenosis, Heart murmur, ... ORPHA:100079
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Kyphosis, Abnormality of the ovary, Hypogonadism, Gait disturbance, Decreased testicula... ORPHA:1875
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Aicardi-Goutieres Syndrome 5
Chilblains, CSF lymphocytic pleiocytosis, Irritability, Scaling skin, Dry skin, Thrombocytopenia OMIM:612952
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Abnormality of the dentition, Keratitis, Osteoarthritis, Skin ulc... ORPHA:1657
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Cardiomegaly, Premature graying of hair, Increased circulating IgG level, Conj... OMIM:256040
Atypical Werner Syndrome
Micrognathia, Abnormal hair whorl, Premature graying of hair, Neoplasm of the breast, Hepatic ste... ORPHA:79474
Distal Deletion 10P
Hypoplasia of penis, Hypertelorism, Short neck, Cryptorchidism, Polycystic ovaries ORPHA:1580
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Anorexia, Pruritus, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, B... ORPHA:391
Trichothiodystrophy 9, Nonphotosensitive
Epicanthus, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse hair... OMIM:619692
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Thrombocytopenia OMIM:166990
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Cockayne Syndrome Type 1
Mandibular prognathia, Hepatomegaly, Renal insufficiency, Cataract, Proteinuria, Hypermelanotic m... ORPHA:90321
Nocardiosis
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Subcutaneous n... ORPHA:31204
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Perineal hemangioma, Congestive heart failure, Midfrontal capillary h... ORPHA:141184
Kaposiform Lymphangiomatosis
Abnormal thoracic spine morphology, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Thrombocyto... ORPHA:464329
Tuberous Sclerosis 1
Wolff-Parkinson-White syndrome, Dental enamel pits, Astrocytoma, Subcutaneous nodule, Renal cyst,... OMIM:191100
Chime Syndrome
Epicanthus, Corneal opacity, Abnormal dental morphology, Abnormality of the kidney, Abnormality o... ORPHA:3474
Stevens-Johnson Syndrome
Macule, Recurrent respiratory infections, Renal insufficiency, Entropion, Gastrointestinal hemorr... ORPHA:36426
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Ptosis OMIM:610539
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Abnormal curvature of the vertebral column, Neoplasm, Otitis media, Compulsive b... ORPHA:353281
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Sparse hair, Iris colob... OMIM:234100
Holocarboxylase Synthetase Deficiency
Alopecia, Eczema, Anorexia, Keratoconjunctivitis, Irritability, Organic aciduria, Thrombocytopeni... ORPHA:79242
Papillon-Lefèvre Syndrome
Liver abscess, Severe periodontitis, Gingivitis, Squamous cell carcinoma, Periodontitis, Generali... ORPHA:678
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... OMIM:260920
Cherubism
Proptosis, Upper airway obstruction ORPHA:184
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Subcutaneous nodule, Mediastinal lymphadenopathy, S... ORPHA:158029
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... OMIM:614669
Graves Disease, Susceptibility To, 1
Hyperactivity, Abnormal abdomen morphology, Irritability, Proptosis, Polyphagia, Goiter OMIM:275000
Hypophosphatasia, Childhood
Waddling gait, Proptosis, Skin dimple over apex of long bone angulation OMIM:241510
Trichorhinophalangeal Syndrome, Type I
Micrognathia, Osteoarthritis, Deep philtrum, Sparse hair, Microdontia, Thin nail, Hyperlordosis, ... OMIM:190350
Preeclampsia
Helicobacter pylori infection, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Po... ORPHA:275555
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Ventriculomegaly, Anemia, Excessive wrinkled sk... ORPHA:3322
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Facia... OMIM:308800
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Skin nodule, Mediastinal lymphadenopathy, Lymphoma,... ORPHA:545
Biotinidase Deficiency
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly... OMIM:253260
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal oral mu... ORPHA:79147
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Aplasia/Hypoplasia of the skin, Lipoa... ORPHA:79083
Dubowitz Syndrome
Abnormality of neutrophils, Micrognathia, Hypoplastic toenails, Low anterior hairline, Neoplasm, ... ORPHA:235
Behçet Disease
Myositis, Anorexia, Myocardial infarction, Pulmonary embolism, Subcutaneous nodule, Oral ulcer, I... ORPHA:117
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate... OMIM:180849
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Vitamin K Antagonist Embryofetopathy
Cataract, Hypertelorism, Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcific... ORPHA:1914
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Subcutaneous nodule, Thrombocytopenia, Purpura ORPHA:529
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Kyphos... ORPHA:35173
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Emphysema, Hepatitis ORPHA:60
Peutz-Jeghers Syndrome
Macule, Melanonychia, Pancreatic adenocarcinoma, Neoplasm of the nose, Gastrointestinal hemorrhag... ORPHA:2869
Lig4 Syndrome
Hepatomegaly, Epicanthus, Telecanthus, Pancytopenia, Hypoplasia of penis, Telangiectasia of the s... ORPHA:99812
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, G... ORPHA:206484
Vici Syndrome
Albinism, Micrognathia, Recurrent viral infections, Leukopenia, T lymphocytopenia, Abnormal thymu... OMIM:242840
Intellectual Developmental Disorder, Autosomal Recessive 41
Mandibular prognathia, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Self-injurious behavior, ... OMIM:615637
Infantile Systemic Hyalinosis
Abnormal dental morphology, Telangiectasia of the skin, Short neck, Subcutaneous nodule, Gingival... ORPHA:2176
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia, Recurrent infections OMIM:614493
Syndromic Diarrhea
Brittle hair, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepatic fibrosis, Hepa... ORPHA:84064
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Ataxia, Epistaxis, Abnormality of neutrophils, Anorexia, Splenom... ORPHA:33226
Adult Syndrome
Sparse scalp hair, Premature loss of permanent teeth, Absent nipple, Fair hair, Eczema, Sparse ax... OMIM:103285
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Sinusitis, Micrognathia, Malar prominence, Deep philtrum, T lymphocy... OMIM:251260
Potocki-Lupski Syndrome
Mandibular prognathia, Hyperactivity, Dental crowding, Oral-pharyngeal dysphagia, Micrognathia, A... OMIM:610883
Tufted Angioma
Petechiae, Thrombocytopenia, Localized skin lesion, Hypertrichosis, Neoplasm of the skin, Facial ... ORPHA:1063
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries ORPHA:488191
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Posterolateral diaphragmatic hernia, Inguinal hernia, Redundant skin, Hypertelo... OMIM:613177
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CS... OMIM:610333
Chediak-Higashi Syndrome
Gingivitis, Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Iris hypopigmentat... OMIM:214500
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Sepsis, Gastrointestinal inflammation, Conjunctivitis, Neutr... ORPHA:95455
Thanatophoric Dysplasia
Redundant skin, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Respiratory insuff... ORPHA:2655
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Thin skin, Purpura ORPHA:743
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoi... OMIM:616100
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Skin ulcer, Erythroderma ORPHA:312
Lhermitte-Duclos Disease
Acrokeratosis, Fibroadenoma of the breast, Hydrocephalus, Ovarian neoplasm, Trichilemmoma, Macrog... ORPHA:65285
Xeroderma Pigmentosum, Complementation Group A
Entropion, Hypermelanotic macule, Keratitis, Telangiectasia, Melanoma, Conjunctivitis, Dermal atr... OMIM:278700
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Mevalonic Aciduria
Normocytic hypoplastic anemia, Cataract, Skin rash, Kyphoscoliosis, Fluctuating hepatomegaly, Flu... OMIM:610377
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Smooth philtrum, Epicanthus, Ventriculomegaly, Hydrocephalus, Leukemia, Nephroblastoma, Downslant... OMIM:602501
Ovarian Fibroma
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif... ORPHA:314473
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Inability to walk, Proptosis, Scoliosis, Joint contracture OMIM:617481
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormal eyelid morphology, Subcutaneous nodule, Scaling skin, Abnormal toenail morphology, Abnor... ORPHA:2526
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Redundant neck skin, Lipodystrophy, Redundant skin, Hypertelorism, Abnormal subc... ORPHA:357074
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt... ORPHA:811
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg... OMIM:618935
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Smooth philtrum, Epicanthus, Recurrent urinary tract infections, Hypospadias, Abnormality of the ... ORPHA:363444
Nasu-Hakola Disease
Hydrocephalus, Acute leukemia, Irritability, Disinhibition, Abnormal adipose tissue morphology, V... ORPHA:2770
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Sea-Blue Histiocyte Disease
Splenomegaly, Cirrhosis, Absent axillary hair, Sea-blue histiocytosis, Thrombocytopenia OMIM:269600
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Lymphoproliferative disorder, Recurrent viral inf... OMIM:609981
Familial Multiple Nevi Flammei
Hypermelanotic macule, Pulmonary embolism, Skin ulcer, Scoliosis, Nevus flammeus, Papule ORPHA:624
Houge-Janssens Syndrome 3
Inguinal hernia, Hypertelorism, Self-injurious behavior, Proptosis, Attention deficit hyperactivi... OMIM:618354
Wiskott-Aldrich Syndrome
Recurrent herpes, Sepsis, Large vessel vasculitis, Iron deficiency anemia, Inflammation of the la... OMIM:301000
Granulomatous Slack Skin
Redundant skin, Erythema, Lymphoma, Hodgkin lymphoma, Abnormal lymph node morphology, Cutis laxa,... ORPHA:33111
Tuberous Sclerosis Complex
Epidermoid cyst, Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, ... ORPHA:805
Lig4 Syndrome
Recurrent respiratory infections, Epicanthus, Psoriasiform dermatitis, Pancytopenia, Myelodysplas... OMIM:606593
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Neonatal respiratory distress, Corneal opacity, Hypertelorism, Increased intervertebral space, Th... OMIM:618961
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Cataract, Band keratopathy, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chr... OMIM:269200
Crouzon Syndrome
Hypertelorism, Abnormal sacrum morphology, Hydrocephalus, Hypopigmented skin patches, Respiratory... ORPHA:207
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal ca... ORPHA:314478
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Lymphadenopathy ORPHA:99976
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Hypertelorism, Cryptorchidism, Hypotelorism, Deeply set... OMIM:619435
Fried Syndrome
Hydrocephalus, Gait disturbance, Scoliosis, Aggressive behavior ORPHA:85335
Juvenile Nasopharyngeal Angiofibroma
Epistaxis, Proptosis, Juvenile colonic polyposis, Juvenile nasopharyngeal angiofibroma ORPHA:289596
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr... ORPHA:2688
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Masa Syndrome
Hyperlordosis, Kyphosis, Hydrocephalus, Shuffling gait, Ventriculomegaly OMIM:303350
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Leukopenia, Increased circulating IgG level, Periungual erythema, Sparse hair, Pustular... OMIM:615934
Hamamy Syndrome
Prolonged QRS complex, Microcytic anemia, Micrognathia, High palate, Sparse hair, Abnormal number... OMIM:611174
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Lymphoma, Lymphadenopathy, Neoplasm of the s... OMIM:254400
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Seckel Syndrome 1
Pancytopenia, Hyperactivity, Hypospadias, Dental crowding, Selective tooth agenesis, Micrognathia... OMIM:210600
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Renal insufficiency, Abnormal de... ORPHA:79430
Non-Syndromic Bicoronal Craniosynostosis
Proptosis, Hypertelorism ORPHA:35099
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail... OMIM:258360
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Severe... OMIM:615387
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, P... ORPHA:79312
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Leprosy
Urticarial plaque, Absent eyebrow, Hypopigmented macule, Alopecia, Epistaxis, Abnormality of the ... ORPHA:548
Crouzon Syndrome With Acanthosis Nigricans
Melanocytic nevus, Proptosis, Hydrocephalus, Hypertelorism OMIM:612247
Graft Versus Host Disease
Fasciitis, Myositis, Oral ulcer, Gastrointestinal inflammation, Scaling skin, Acute hepatitis, Ma... ORPHA:39812
Mannosidosis, Alpha B, Lysosomal
Mandibular prognathia, Hepatomegaly, Epicanthus, Splenomegaly, Increased vertebral height, Vacuol... OMIM:248500
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Cataract, Corneal dystrophy, Sclerocornea, Skin ulcer, Microcor... ORPHA:1806
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Invasive parasitic infection, Thrombocytopenia, Splenomegaly, CSF ple... ORPHA:158048
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Oral ulcer, Recurrent infections, Leukopenia, Irritabilit... OMIM:229050
Localized Scleroderma
Fasciitis, Uveitis, Hashimoto thyroiditis, Abnormal skin adnexa morphology, Abnormality of the ki... ORPHA:90289
Pediatric Systemic Lupus Erythematosus
Myositis, Oral ulcer, Leukopenia, Nephritis, Alopecia, Raynaud phenomenon, Lymphadenopathy, Nephr... ORPHA:93552
Bloom Syndrome
Recurrent herpes, Micrognathia, Severe varicella zoster infection, Paronychia, Uveitis, Neoplasm,... ORPHA:125
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Hypertrophic cardio... OMIM:619902
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... OMIM:619693
Muenke Syndrome
Low anterior hairline, Dental malocclusion, High palate, Attention deficit hyperactivity disorder... OMIM:602849
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Pontocerebellar Hypoplasia Type 10
Irritability, Proptosis ORPHA:411493
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Phelan-Mcdermid Syndrome
Micrognathia, Hypoplastic toenails, High palate, Widely spaced teeth, Vesicoureteral reflux, Abno... OMIM:606232
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Systemic Sclerosis
Intestinal bleeding, Acral ulceration, Alopecia, Barrett esophagus, Abnormality of the kidney, Di... ORPHA:90291
Epidermodysplasia Verruciformis
Recurrent skin infections, Telangiectasia of the skin, Seborrheic dermatitis, Pustule, Hypopigmen... ORPHA:302
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
22Q11.2 Deletion Syndrome
Abnormal eyelid morphology, Short neck, Micrognathia, Hypoplasia of the thymus, Abnormality of th... ORPHA:567
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Anorexia, Hypersplenism, Thrombocytopenia, Osteoarthriti... ORPHA:77259
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Preauricular pit, Everted upper lip vermilion, Highly arched eyebrow, Myelodysplasia, Supernumera... OMIM:619951
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Ce... OMIM:614034
Wt Limb-Blood Syndrome
Pancytopenia, Micrognathia, Cryptorchidism, Retrognathia, Leukemia, Hypoplastic anemia, Thrombocy... OMIM:194350
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th... ORPHA:81
Immunodeficiency 16
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia OMIM:615593
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Abnormality of the gingiva, Anemia, Pallor, Thrombocytopenia ORPHA:517
6P22 Microdeletion Syndrome
Redundant skin, Short neck, Hydrocephalus, Hypotelorism, Deeply set eye, Hernia ORPHA:251046
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria, Thrombocytopenia OMIM:189800
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Leukocytosis, Depression, Anterior open-bite malocclusion, Hashimoto thyroid... ORPHA:83601
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma ORPHA:66661
Monosomy 9Q22.3
Short neck, Palmar pits, Plantar pits, Cardiac fibroma, Orofacial cleft, Odontogenic keratocysts ... ORPHA:77301
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Cockayne Syndrome A
Mandibular prognathia, Dry hair, Sparse hair, Micropenis, Hepatomegaly, Cryptorchidism, Hypoplasi... OMIM:216400
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Leukopenia, Monocyto... OMIM:616871
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... OMIM:619041
Xeroderma Pigmentosum, Complementation Group E
Entropion, Keratitis, Telangiectasia, Basal cell carcinoma, Melanoma, Conjunctivitis, Dermal atro... OMIM:278740
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Cataract, Abnormal fingernail morphology, Anorexia, Hypoplastic toenails,... ORPHA:2930
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Acral ulceration, Recurrent corneal erosions, Opacifi... OMIM:256800
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Oral ulcer, Uveitis, Skin ulcer,... OMIM:608710
Cutis Laxa, Autosomal Recessive, Type Iie
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Cutis laxa, Proptosis, Scoliosis OMIM:619451
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Large clumps of pigment irregularly distributed along hair s... ORPHA:167
Tuberous Sclerosis 2
Wolff-Parkinson-White syndrome, Astrocytoma, Angiofibromas, Subcutaneous nodule, Subependymal gia... OMIM:613254
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Skin rash OMIM:619175
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... ORPHA:90039
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... OMIM:618986
Brucellosis
Liver abscess, Anorexia, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Increased cir... ORPHA:1304
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Tenorio Syndrome
Mandibular prognathia, Telecanthus, Ventriculomegaly, Raynaud phenomenon, Hydrocephalus, Recurren... OMIM:616260
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Increased circulating myelocyt... ORPHA:36234
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, External genital hypoplasia, Short neck, Micrognathia, High palate, Short philtr... ORPHA:251028
Acquired Ichthyosis
Renal insufficiency, Recurrent skin infections, Pruritus, Erythema, Lymphoma, Neoplasm, Multiple ... ORPHA:454
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Short neck, Micrognathia, Hemivertebrae, Short philtrum, High palate, Chr... ORPHA:96121
Cockayne Syndrome B
Mandibular prognathia, Dry hair, Microcornea, Hypoplasia of the iris, Sparse hair, Micropenis, He... OMIM:133540
Transaldolase Deficiency
Abnormality of the kidney, Hepatosplenomegaly, Anemia, Telangiectasia, Abnormality of the clitori... ORPHA:101028
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:611808
Buerger Disease
Skin ulcer ORPHA:36258
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Aredyld Syndrome
Mandibular prognathia, Hepatomegaly, Smooth philtrum, Craniofacial hyperostosis, Abnormal dental ... ORPHA:1133
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... OMIM:230800
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Meningitis, Cervical lymphadenopathy, Recurrent pneumonia, Vasculitis, Decreased mean ... OMIM:617718
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm... ORPHA:2273
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte... ORPHA:95430
Luscan-Lumish Syndrome
Aggressive behavior, Polycystic ovaries, Recurrent otitis media, Polyphagia, Ventriculomegaly OMIM:616831
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Optic Pathway Glioma
Precocious puberty, Hydrocephalus, Proptosis, Neurofibroma ORPHA:2086
Macrocephaly/Autism Syndrome
Hepatomegaly, Epicanthus, Penile freckling, Splenomegaly, Cutis laxa, Hydrocele testis, Decreased... OMIM:605309
Ogden Syndrome
Inguinal hernia, Cryptorchidism, Pulmonary artery stenosis, Cutis laxa, Proptosis, Shuffling gait... ORPHA:276432
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Decreased glomerular fi... OMIM:232220
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly, Recurrent respiratory infections ORPHA:139406
Xeroderma Pigmentosum, Complementation Group C
Entropion, Keratitis, Telangiectasia, Basal cell carcinoma, Conjunctivitis, Dermal atrophy, Squam... OMIM:278720
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Genital ulcers, Oral ulcer, Colitis, Lymphopenia, ... OMIM:616744
Stuve-Wiedemann Syndrome 2
Eczema, Congestive heart failure, Scoliosis, Dysphagia, Pulmonary arterial hypertension, Thromboc... OMIM:619751
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... OMIM:233710
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Loss of gluteal subcut... ORPHA:435660
H Syndrome
Microcytic anemia, Corneal arcus, Micropenis, Alopecia, Psoriasiform dermatitis, Abnormality of t... ORPHA:168569
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Retinal vasculitis, Decrea... OMIM:618969
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, Elbow contracture, H... OMIM:617201
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Polyarteritis Nodosa
Abnormal lung morphology, Erythema, Subcutaneous nodule, Skin ulcer, Pleuritis ORPHA:767
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Subcapsular cataract, Hypergonadotropic hypogonadism, Dry skin, Polycystic ovaries OMIM:268020
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Myelodysplasia, Dry skin, Lymphad... OMIM:617827
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Otitis me... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Otitis me... ORPHA:353277
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Abnormal oral mucosa morphology, Paronychia, Sepsis, Renal cyst, Gastrointest... ORPHA:79404
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Pneumonia, Eosinophilia, Erythematous oral mucosa, Recurrent pneumonia, Chron... OMIM:158310
Xeroderma Pigmentosum, Variant Type
Entropion, Keratitis, Squamous cell carcinoma, Cutaneous telangiectasia, Basal cell carcinoma, Co... OMIM:278750
19P13.12 Microdeletion Syndrome
Hyperactivity, Hypospadias, Short neck, Hypertelorism, Kyphosis, Precocious puberty, Cryptorchidi... ORPHA:254346
Charcot-Marie-Tooth Disease Type 4B2
Reduced vital capacity, Cataract, Kyphoscoliosis, Inability to walk, Developmental glaucoma, Pene... ORPHA:99956
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Splenome... OMIM:309900
Immunodeficiency 42
Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy... OMIM:616622
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Autoimmune Hypoparathyroidism
Prolonged QT interval, Calcium nephrolithiasis, Cataract, Autoimmune hypoparathyroidism, Chronic ... ORPHA:36913
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... OMIM:233690
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr... ORPHA:100024
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... OMIM:618459
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Sarcoidosis
Abnormal cerebrospinal fluid morphology, Heart block, Increased T cell count, Subcutaneous nodule... ORPHA:797
16Q24.3 Microdeletion Syndrome
Micrognathia, High palate, Chronic otitis media, Highly arched eyebrow, Cryptorchidism, Dilated c... ORPHA:261250
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Prur... ORPHA:64743
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Ocular albinism, Epistaxis, Skin ulcer ORPHA:352723
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Kyphoscoliosis, Short neck, H... OMIM:613330
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... ORPHA:280365
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Hypertelorism, Hydrocephalus, Abnormality of the vertebral column, Proptosis, Ven... OMIM:109120
Premature Ovarian Failure 8
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:615723
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Goiter, Breast carcinoma, Abnor... ORPHA:97290
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Short neck, Micrognathia, High, narrow palate, High palate, Juv... OMIM:163950
Neonatal Marfan Syndrome
Iridodonesis, Neonatal respiratory distress, Lipoatrophy, Ectopia lentis, Emphysema, Flexion cont... ORPHA:284979
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Kyphoscoliosis, Hemolytic-uremic syndrome, Malar flattening, Thrombocytopenia, Amel... OMIM:614727
Hepatoerythropoietic Porphyria
Facial hypertrichosis, Recurrent bacterial skin infections, Hemolytic anemia, Erythrodontia, Prur... ORPHA:95159
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Endometriosis, Micrognathia, Carious teeth, Unilateral renal ... OMIM:613680
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia OMIM:619302
Kniest Dysplasia
Respiratory distress, Hip contracture, Inguinal hernia, Cataract, Short neck, Coronal cleft verte... OMIM:156550
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Hepatomegaly, Ventriculomegaly, Seborrheic dermatitis, Thrombocytopeni... OMIM:301072
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Pruritus, Myoca... ORPHA:829
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Ataxia, Hypogonadotropic hypogonadism, Camptodactyly of finger, Kyphosis, Dysmetria, Mi... ORPHA:48431
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Emphysema, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct morphology, Pa... ORPHA:363618
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Congestive heart fa... ORPHA:163596
Q Fever
Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Meningitis... ORPHA:781
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Keratitis, Splenomegaly, Jaundice, Neonatal asphyxia, Neutropenia in... ORPHA:525731
Chromosome 3Q13.31 Deletion Syndrome
Hypertelorism, Alobar holoprosencephaly, Cryptorchidism, Kyphosis, Attention deficit hyperactivit... OMIM:615433
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Micrognathia, Downturned corners of mouth, High palate, Intercrural pterygium, Pteryg... OMIM:265000
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation defect, High p... OMIM:611209
Myopathy, Myofibrillar, 8
Spinal rigidity, Micrognathia, Dental malocclusion, Mitral regurgitation, High palate, Scoliosis,... OMIM:617258
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Kyphoscoliosis, Cigarette-paper scars, Dental malocclusion, Irregular ... OMIM:612350
Congenital Enterovirus Infection
Ventriculomegaly, Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocyt... ORPHA:292
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Loss of gluteal subcut... ORPHA:435651
Emanuel Syndrome
Redundant neck skin, Hooded eyelid, Dental crowding, Micrognathia, Recurrent candida infections, ... ORPHA:96170
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Neoplasm ORPHA:172
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Abnormality of the dentition, Kyphosis, Increased circulating IgE level, D... ORPHA:1858
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum, Dilated cardiomyopathy, Anemia, Panniculitis, Cystic acne, Small ... OMIM:608068
Von Hippel-Lindau Disease
Back pain, Hypertensive retinopathy, Myocardial infarction, Pancreatic endocrine tumor, Adrenal p... ORPHA:892
Wilson Disease
Back pain, Hepatomegaly, Aggressive behavior, Pruritus, Thrombocytopenia, Splenomegaly, Jaundice,... ORPHA:905
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Parkes Weber Syndrome
Back pain, Hemangiomatosis, Subarachnoid hemorrhage, Myelopathy, High-output congestive heart fai... ORPHA:90307
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Polycystic ovaries, Deeply set eye, Abnormal testis... ORPHA:1227
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypertelorism, Abnormal sacrum morphology, Hydrocephalus, Respiratory insufficiency, Abnormal for... ORPHA:93262
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hepatomegaly, Thin upper lip vermilion, Recurrent respiratory infections, External genital hypopl... ORPHA:329178
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Cog4-Cdg
Neonatal sepsis, Thick hair, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Ir... ORPHA:263501
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit... ORPHA:978
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Pelger-Huet Anomaly
Eczema, Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hyposegmentation of n... OMIM:169400
Digeorge Syndrome
Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepat... OMIM:188400
Frontoocular Syndrome
Hypotelorism, Proptosis, Capillary hemangioma, Nevus flammeus, Glabellar hemangioma OMIM:605321
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Erythema, Vasculitis, Chronic CSF lymph... OMIM:225750
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Dental malocclusion, Upslanted palpebral fissure, Widely spaced teeth, Malar flattening... OMIM:616108
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Cor... OMIM:148210
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, M... OMIM:607115
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Hypertelorism, Short neck, Flexion contracture, Abn... OMIM:263210
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Cheilitis, Bronchiectasis, Recu... OMIM:615468
Sepsis In Premature Infants
Neonatal sepsis, Hepatomegaly, Tachycardia, Disseminated viral infection, Thrombocytopenia, Leuko... ORPHA:90051
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Recurrent viral infections, Sepsis, Hepatic steatosis, Decreased proportion o... OMIM:619573
Mucopolysaccharidosis, Type Vii
Short neck, Coarse hair, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Hepatomegaly,... OMIM:253220
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Inguinal hernia, Redundant skin, Congenital diaphragmatic herni... OMIM:219100
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cirrhosis, Portal hypertension OMIM:210050
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... OMIM:151660
Familial Cold Urticaria
Pruritus, Erythema, Arthritis, Conjunctivitis, Polydipsia ORPHA:47045
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Persistence of ... OMIM:259710
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hemangiomatosis, Renal hypoplasia/aplasia, Visceral angiomatos... ORPHA:2123
Gardner Syndrome
Astrocytoma, Epidermoid cyst, Brain neoplasm, Papillary thyroid carcinoma, Prostate cancer, Hepat... ORPHA:79665
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, Dental malocclusion, High palate, Dysphagia, Ptosis OMIM:608931
Lassa Fever
Back pain, Shock, Jaundice, Sepsis, Oliguria, Increased circulating IgM level, Conjunctivitis, Dy... ORPHA:99824
Donnai-Barrow Syndrome
Omphalocele, Congenital diaphragmatic hernia, Hypertelorism, Proptosis, Bicornuate uterus, Abnorm... ORPHA:2143
Cockayne Syndrome
Dry hair, Urinary incontinence, Retinal arteriolar constriction, Lentiglobus, Hepatomegaly, Abnor... ORPHA:191
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Respiratory insufficiency due to muscle weakness, Kyphosis, Difficulty walking, Scoliosis OMIM:617087
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Multiple Synostoses Syndrome 3
Proptosis OMIM:612961
Hurler Syndrome
Short neck, Microdontia, Hepatomegaly, Hypoplasia of the odontoid process, Gingival overgrowth, H... OMIM:607014
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Abnormal dental morphology, Abnorma... ORPHA:238468
Steinert Myotonic Dystrophy
Brain neoplasm, Tented upper lip vermilion, Decreased response to growth hormone stimulation test... ORPHA:273
Familial Tumoral Calcinosis
Hepatomegaly, Skin rash, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, ... ORPHA:53715
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... OMIM:145001
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Dysphagia OMIM:618323
Schwartz-Jampel Syndrome
Short neck, Micrognathia, Low anterior hairline, Microcornea, High palate, Generalized hirsutism,... ORPHA:800
Cinca Syndrome
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Retrobulbar optic neuritis... ORPHA:1451
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Preauricular pit, Sacral dimple, Pulmonary cyst, Inguinal hernia, Hypertelorism, Kyphosis, Umbili... OMIM:618272
Marfan Syndrome
Pulmonary artery dilatation, Inguinal hernia, Flat cornea, Spontaneous pneumothorax, Ectopia lent... ORPHA:558
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Facial capillary hemangioma, Micrognathia, Vesicoureteral reflux, Axial mal... OMIM:274000
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Epicanthus, Dental malocclusion, High palate, Downslanted palpebral fissures OMIM:618292
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-... OMIM:619774
Focal Facial Dermal Dysplasia Type Iv
Cleft upper lip, Hydrocephalus, Cleft palate, Intracranial hemorrhage, Nevus, Hemangioma, Abnorma... ORPHA:398189
Winchester Syndrome
Kyphosis, Subcutaneous nodule, Corneal opacity OMIM:277950
Adult Polyglucosan Body Disease
Gait disturbance, Ataxia, Skin ulcer ORPHA:206583
Calciphylaxis
Secondary hyperparathyroidism, Sepsis, Skin ulcer, Cellulitis ORPHA:280062
Chromosome 5P13 Duplication Syndrome
Hypertelorism, Hypotelorism, Self-injurious behavior, Astigmatism, Proptosis, Compulsive behavior... OMIM:613174
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Abnormality of the dentition, R... OMIM:615952
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Renal cyst, Do... ORPHA:261494
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Proteinuria, Macrothrombocytopenia, Recurrent bacterial infections, Aminoac... OMIM:603585
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased CSF protein concentration, Hepatomegaly, Pancytopenia, Skin rash, Thrombocytopenia, Spl... OMIM:603553
Fibrous Dysplasia Of Bone
Antalgic gait, Precocious puberty in females, Elevated circulating growth hormone concentration, ... ORPHA:249
Immunoglobulin A Vasculitis
Episcleritis, Macule, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Anorexia, Gast... ORPHA:761
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Palpebral edema, Skin r... ORPHA:93672
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Gout, Recurrent infections, Renal cyst, Focal segmental glomerulosclerosi... OMIM:617056
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Nevus, Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Deeply set eye, Multiple e... OMIM:620189
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Hip contracture, Broad-based gait, Hyperlordosis, Kyphosis, Achilles tendon contra... OMIM:615290
Caffey Disease
Proptosis, Respiratory insufficiency, Scoliosis, Cellulitis ORPHA:1310
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Holoprosencephaly 11
Proptosis, Holoprosencephaly, Polysplenia, Hypotelorism OMIM:614226
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Scoliosis, Short neck OMIM:168400
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... OMIM:618987
Whipple Disease
Hepatomegaly, Ataxia, Anorexia, Mediastinal lymphadenopathy, Splenomegaly, Hydrocephalus, Respira... ORPHA:3452
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Multicentric Carpotarsal Osteolysis Syndrome
Inability to walk, Proptosis, Corneal opacity, Congenital diaphragmatic hernia OMIM:166300
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Microhydranencephaly
Multiple joint contractures, Athetosis, Proptosis, Hydranencephaly, Self-mutilation, Ventriculome... OMIM:605013
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Cataract, Seborrheic dermatitis, Uveitis, Renal... ORPHA:488618
B4Galt1-Cdg
Hepatomegaly, Inflammatory abnormality of the skin, Redundant neck skin, Thin upper lip vermilion... ORPHA:79332
Craniosynostosis 3
Dental malocclusion, Low anterior hairline, Ptosis OMIM:615314
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Emanuel Syndrome
Dental crowding, Micrognathia, High palate, Micropenis, Dandy-Walker malformation, Preauricular p... OMIM:609029
Martin-Probst Syndrome
Bifid scrotum, Epicanthus, Pancytopenia, Telecanthus, Renal insufficiency, Proteinuria, Micrognat... OMIM:300519
Thanatophoric Dysplasia Type 1
Redundant skin, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Respiratory insuff... ORPHA:1860
Cutaneous Mastocytoma
Macule, Maculopapular exanthema, Hypermelanotic macule, Telangiectasia of the skin, Pruritus, Hyp... ORPHA:79455
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatomegaly, Hypertelorism, Abnormal form of the vertebral bodies, Dysphagia, Proptosis, Hepatic... ORPHA:73230
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... OMIM:158320
Barber-Say Syndrome
Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, Low anterior hair... OMIM:209885
21Q22.11Q22.12 Microdeletion Syndrome
Dental crowding, Downturned corners of mouth, Hyperactivity, Tongue thrusting, Thick vermilion bo... ORPHA:261323
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Corneal opacity, Ataxia, Splenomegaly, Kyphosis, Dyspnea, Flexion ... ORPHA:87876
Kabuki Syndrome 2
Natal tooth, Epicanthus, Highly arched eyebrow, Micrognathia, Lower lip pit, Dental malocclusion,... OMIM:300867
Tetrasomy 9P
Myositis, Dental crowding, Short neck, Micrognathia, Biliary atresia, Downturned corners of mouth... ORPHA:3310
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Sacral dimple, Hypertelorism, Short neck, Hydrocephalus, Nevus flammeus, Umbilical hernia ORPHA:1516
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Sinusitis, Corneal opacity, Abnormality of the tonsils, Splenom... ORPHA:579
Acalvaria
Omphalocele, Spina bifida, Hypertelorism, Hydrocephalus, Abnormal lung lobation, Holoprosencephaly ORPHA:945
Teebi Hypertelorism Syndrome 2
Proptosis, Hypospadias, Attention deficit hyperactivity disorder, Hypertelorism OMIM:619736
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Short neck, Micrognathia, Renal cyst, Micropenis, Dandy-Walker malformation, Multi... OMIM:257300
Bullous Impetigo
Recurrent bacterial skin infections, Glomerulopathy, Pustule, Erythema, Abnormality of the lympha... ORPHA:36237
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Follicular thyroid carcinoma, A... ORPHA:319487
Split Cord Malformation
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Capillary ... ORPHA:573278
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Acrootoocular Syndrome
Delayed eruption of teeth, Epicanthus, Decreased response to growth hormone stimulation test, Hyp... ORPHA:2980
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Deeply set eye, Agitation OMIM:300558
46,Xy Sex Reversal 6
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi... OMIM:613762
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... OMIM:314050
Basal Cell Nevus Syndrome 2
Angiofibromas, Palmar pits, Hydrocephalus, Plantar pits, Neurofibroma, Medulloblastoma, Basal cel... OMIM:620343
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Cholangitis, Short neck, Micrognathia, Renal cyst, Hepatic fibrosis, Widely... OMIM:266920
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Hypospadias, Bilateral cryptorchidism, Agitation, Erythroderma, Micropenis OMIM:618840
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Abnormal oral cavi... ORPHA:42642
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Abnormal left ventricular function, Leukopenia, Vesicoureteral reflux, Micro... OMIM:301056
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Sepsis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Men... ORPHA:37042
Frasier Syndrome
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Focal segmental glomerul... OMIM:136680
Chondrodysplasia Punctata 2, X-Linked Dominant
Ventriculomegaly, Cataract, Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse eyebrow, Hemiver... OMIM:302960
Holoprosencephaly 5
Syntelencephaly, Hypertelorism, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly,... OMIM:609637
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Localized skin lesion, Erythema... ORPHA:449285
Nijmegen Breakage Syndrome
Abnormal eyelid morphology, Short neck, Deep philtrum, Low anterior hairline, Neoplasm, Hemolytic... ORPHA:647
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Congenital Rubella Syndrome
Hepatomegaly, Cataract, Corneal opacity, Skin rash, Thrombocytopenia, Splenomegaly, Jaundice, Apl... ORPHA:290
Caroli Syndrome
Liver abscess, Cholangitis, Sepsis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepat... ORPHA:480520
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion OMIM:155050
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Kyphosis, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexion contracture, Re... OMIM:619708
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, Sy... OMIM:252930
Hurler Syndrome
Short neck, Abnormal vertebral morphology, Generalized hirsutism, Hepatomegaly, Abnormality of th... ORPHA:93473
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Cervical lymphadenopathy, Leukocytosis, Subcutaneous nodule, ... ORPHA:514
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Erythema, Subcutaneous nodule, Lymphadenopathy, Papule, Anemia ORPHA:158014
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Spinal canal stenosis, C... ORPHA:93476
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Short neck, Thrombocytopenia, Synophrys, Micron... OMIM:606003
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Hepatomegaly, Epicanthus, Dental crowding, Kyphoscoliosis, Splenomegal... OMIM:616354
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Renal cyst, Postauricular pit, Vertebral segmentation defect, Hepatoblasto... OMIM:312870
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cough, Splenomegaly, Flexio... ORPHA:77260
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Anorexia, Oral ulcer, Postauricular pit, T lymphocytopenia... OMIM:619381
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, H... OMIM:105200
Au-Kline Syndrome
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Shallow orb... OMIM:616580
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Paronychia, Increased circulating IgE level, Perioral erythema, Eryth... OMIM:614328
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Hajdu-Cheney Syndrome
Short neck, Micrognathia, Absent frontal sinuses, Synophrys, Renal cyst, High palate, Premature l... OMIM:102500
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Redundant neck skin, Hypertelorism, Thyroid lymphangiectasia, Shor... OMIM:235255
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease... ORPHA:859
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... ORPHA:90045
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Micrognathia, Short neck, Diastema, Dental malocclusion, Upslanted palpebral fissure, Malar flatt... ORPHA:436245
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Dental crowding, Eosinophilia, Eczema, Thoracolumbar scoliosis,... OMIM:618523
Braddock-Carey Syndrome 1
Curly hair, Telecanthus, Multicystic kidney dysplasia, Hyperlordosis, Pierre-Robin sequence, Clef... OMIM:619980
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Platyspondyly, Recurrent pneumonia, Scoliosis OMIM:602271
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sacral dimple, Hypospadias, Dental crowding, Hyperlordosis, Micrognathi... OMIM:615761
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Rhabdomyosarcoma, Hydrocephalus, Subcutaneous nodule, Hypopig... ORPHA:626
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Sepsis, Anemia, Renal tubular dysfunction, Neutropenia, Pancre... ORPHA:289916
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased CSF protein concentration, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, CSF ... OMIM:267700
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Depression, Increased urinary porphobilinogen,... OMIM:121300
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Abnormality of the lymphatic system, Hydrocele testis, Multiple lipomas, Scoliosis, ... ORPHA:276280
Thrombocytopenia 5
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... OMIM:616216
Ichthyosis With Confetti
Pruritus, Hypertrichosis, Hypoplastic nipples, Scaling skin, Erythroderma, Ectropion OMIM:609165
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Small scrotum, Inguinal hernia, Recurrent urinary tract infections, Portal hyperten... OMIM:613658
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Carious teeth, Congestive heart failure, Oliguri... ORPHA:220393
Coach Syndrome 1
Encephalocele, Hepatomegaly, Occipital encephalocele, Portal hypertension, Unilateral renal agene... OMIM:216360
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum, Small nail OMIM:300210
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Ptosis, Micrognathia, Open bite, Cryptorchidism, Kyphosis, Carious teeth,... ORPHA:2617
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr... OMIM:257850
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Cle... ORPHA:2890
Ectopic Aldosterone-Producing Tumor
Epistaxis, Ovarian neoplasm, Hypertension, Adrenocortical adenoma, Renal cortical adenoma ORPHA:231632
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Lipodystrophy, Adi... ORPHA:528
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Hig... ORPHA:85212
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Alopecia, Conjunctivitis, Cirrhosis, Erythroderma, Sparse hair, Fragile nails OMIM:242150
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Proptosis, Flexion contracture, Thin skin ORPHA:157965
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Lymphadenitis, Granulomatosis, Hepatomegaly, Recurrent E. coli infections, Lymphad... OMIM:306400
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Pruritus, T... ORPHA:99828
Relapsing Polychondritis
Uveitis, Large vessel vasculitis, Conjunctivitis, Chondritis, Macule, Glomerulopathy, Alopecia, H... ORPHA:728
Immunodeficiency 27B
Generalized lymphadenopathy, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteom... OMIM:615978
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Scoli... OMIM:616756
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Flexion contracture, Cough, Skin vesicle, Intermittent generalized erythemat... ORPHA:99921
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Microcornea, Renal neoplasm, Repeated pneumoth... ORPHA:536467
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Hypertelorism, Scoliosis, Depression ORPHA:276630
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... ORPHA:232
Bathing Suit Ichthyosis
Eclabion, Alopecia, Palmoplantar scaling skin, Scaling skin, Nail dystrophy, Erythroderma, Sparse... ORPHA:100976
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent skin infections, Persistence of primary teeth, Supernu... OMIM:619752
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... ORPHA:59303
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Proptosis, Abnormal r... ORPHA:2522
Kosaki Overgrowth Syndrome
Thoracolumbar scoliosis, Depression, Xanthelasma, Proptosis, Thin skin, Scoliosis, Myofibromatosis OMIM:616592
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Left ventricular hypertrophy, ... ORPHA:335
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst OMIM:615987
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Inguinal hernia, Lipodystrophy, Kyphoscoliosis, Hypertelorism... ORPHA:2834
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Epicanthus, True hermaphroditism, Nephroblastoma, Septate vagina, Go... OMIM:194080
Gm1-Gangliosidosis, Type Iii
Ataxia, Kyphosis, Platyspondyly, Scoliosis, Opacification of the corneal stroma, Anterior beaking... OMIM:230650
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia OMIM:252270
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Hypermelanotic macule, Bile duct polyp, Biliary tract abnormality, Brea... OMIM:175200
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Metatropic Dysplasia
Cataract, Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Hydrocephal... ORPHA:2635
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy OMIM:618852
Spondyloenchondrodysplasia With Immune Dysregulation
Increased intervertebral space, T lymphocytopenia, Irregular vertebral endplates, Neutropenia, Ju... OMIM:607944
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cryptorchidism, Hypoplasia of the prostate, Deeply set eye, Scoliosis, Micropenis, Sche... OMIM:301900
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Depression, Emotional lab... ORPHA:101096
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal fear-induced... ORPHA:100924
Lichen Planus Pemphigoides
Abnormal oral mucosa morphology, Pruritus, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality... ORPHA:254478
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Epidermoid cyst, Adrenocortical carcinoma, Pilomatrixoma, ... ORPHA:247806
African Trypanosomiasis
Erythematous macule, Urinary incontinence, Conjunctivitis, Iritis, Hepatomegaly, Alopecia, Abnorm... ORPHA:3385
Cogan Syndrome
Episcleritis, Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel va... ORPHA:1467
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Sandwich appearance of vertebral bodies, Carious teeth... OMIM:259700
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Mediastinal lymphadenopathy, S... OMIM:181000
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Uterine rupture, Ecchymosis, Emphysema, Keratoconus, Repeated ... OMIM:130050
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Pancytopenia, Recurrent respiratory ... OMIM:613385
Oculocerebrocutaneous Syndrome
Skin tags, Ventriculomegaly, Aplasia/Hypoplasia of the skin, Corneal opacity, Congenital diaphrag... ORPHA:1647
Incontinentia Pigmenti
Ridged nail, Conical tooth, Hemivertebrae, Uveitis, Coarse hair, Oligodontia, Pallor, Sparse hair... OMIM:308300
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Anorexia, Myocarditis, Splenomegaly, Jaundice, Re... ORPHA:549
Alveolar Echinococcosis
Low back pain, Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Panc... ORPHA:284
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Epicanthus, Aggressive behavior, Dental malocclusion, Upslanted palpebr... OMIM:619149
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Usmani-Riazuddin Syndrome, Autosomal Recessive
Epicanthus, Aggressive behavior, High palate, Lumbar scoliosis, Conjunctival hyperemia OMIM:619548
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Cranioectodermal Dysplasia 2
Unilateral ptosis, Cholangitis, Short neck, Micrognathia, Renal cyst, Fused teeth, High palate, W... OMIM:613610
Hennekam-Beemer Syndrome
Macule, Ventriculomegaly, Pneumonia, Camptodactyly of finger, Subcutaneous nodule, Erythema, Resp... ORPHA:2135
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Glomerulopathy, Proteinu... ORPHA:77297
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Abnormal form of th... ORPHA:666
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Hydrocephalus, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, De... ORPHA:220295
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Polycystic ovaries, Increased intraabdominal fat, Hepatic steatosis ORPHA:79085
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Micrognathia, Renal hypoplasia/aplasia, Splenomegaly, Abnormali... ORPHA:1046
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat... ORPHA:731
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Depression, Thrombocytopenia OMIM:231000
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Recurrent viral infect... OMIM:617443
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Thrombocytopenia OMIM:613606
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Epicanthus, Thin upper lip vermilion, Thoracolumbar scoliosis, Portal hypertension,... OMIM:610199
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Aggressive behavior, Cardiomegaly, Splenomegaly, Synophrys, Recurren... OMIM:252920
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation o... OMIM:619281
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon co... OMIM:620351
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased intervertebral space, Deeply set eye, T lymphocytopenia, Capillary hemangioma, Abnormal... ORPHA:508533
Harrod Syndrome
Multicystic kidney dysplasia, Cataract, Hypospadias, Cryptorchidism, Kyphosis, Dental malocclusio... ORPHA:2115
Pseudo-Torch Syndrome 1
Microretrognathia, Hepatomegaly, Ventriculomegaly, Cataract, Petechiae, Renal insufficiency, Sple... OMIM:251290
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Hypopigmented macule, Epicanthus, Pancytopenia, Anemic pallor, Hype... OMIM:227645
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Acute ... OMIM:618886
Autosomal Dominant Cutis Laxa
Inguinal hernia, Redundant neck skin, Corneal opacity, Redundant skin, Emphysema, Bronchiectasis,... ORPHA:90348
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Lateral ventricular asymmetry, Lipoatrophy, Ectopia lentis, ... OMIM:616914
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Thoracolumbar scoliosis, Hypertelorism, Kyphosis, Respiratory insufficiency, Kne... OMIM:313420
Williams Syndrome
Hypoplasia of penis, Redundant skin, Myocardial infarction, Cardiomegaly, Micrognathia, Hypoplast... ORPHA:904
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Craniofacial hyperostosis, Anemia, Abnormal form of the vertebral bodies ORPHA:1802
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Postinfectious Vasculitis
Anorexia, Severe varicella zoster infection, Subcutaneous nodule, Recurrent candida infections, G... ORPHA:48435
Van Maldergem Syndrome 2
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the m... OMIM:615546
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis OMIM:236660
Hennekam Syndrome
Abnormal oral mucosa morphology, Ectopic kidney, Short philtrum, Abnormal dental morphology, Supe... ORPHA:2136
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi... OMIM:619858
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Respiratory distress, Hypertelorism, Abnormality of the pancreas, Cryptorchidism, ... ORPHA:1555
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Skin tags, Brain abscess, Lumbar hyperlordosis, Redundant skin, Urinary incontinence, Kyphosis, H... OMIM:616482
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Platyspondyly, Cataract, Proptosis ORPHA:90653
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea, Hypertelorism, Cryptorchidism, Kyphosis, Astigmatism, Scoliosis, Ventriculomegaly OMIM:619797
Limb-Mammary Syndrome
Cleft hard palate, Aplasia of the ovary, Bifid uvula, Alopecia, Psoriasiform dermatitis, Chronic ... ORPHA:69085
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
47,Xyy Syndrome
Hyperactivity, Hypospadias, Impulsivity, Hypertelorism, Cryptorchidism, Increased circulating gon... ORPHA:8
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea... ORPHA:98827
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Mediastinal lymphadenopathy, Severe viral in... ORPHA:79128
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Thrombocytopenia, Splenomegaly, Abnormal natural k... ORPHA:158061
Zimmermann-Laband Syndrome 3
Thick hair, Kyphosis, Synophrys, Thick lower lip vermilion, Low anterior hairline, Gingival overg... OMIM:618658
Marfan Syndrome
Pulmonary artery dilatation, Reduced subcutaneous adipose tissue, Cataract, Kyphoscoliosis, Ectop... OMIM:154700
De Sanctis-Cacchione Syndrome
Entropion, Hypermelanotic macule, Keratitis, Bilateral cryptorchidism, Gonadal hypoplasia, Telang... OMIM:278800
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Dental crowding, Facial capillary hemangioma, Micrognathia, Renal c... OMIM:270400
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased CSF lactate, Irritability, Hypoglycorr... OMIM:612126
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Raynaud phe... ORPHA:536
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Ventriculomegaly, Hypospadias, Aggressive behavior, Kyphosis, Cryptorchidism, Gait... OMIM:300354
Generalized Eruptive Keratoacanthoma
Pruritus, Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Papu... ORPHA:411777
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Kyphosis, Inguinal hernia, Cataract OMIM:618392
Cornelia De Lange Syndrome 1
Short neck, Micrognathia, High, narrow palate, Synophrys, Ectopic kidney, Renal cyst, Microcornea... OMIM:122470
Autosomal Recessive Cutis Laxa Type 1
Inguinal hernia, Cataract, Recurrent urinary tract infections, Redundant skin, Pneumothorax, Recu... ORPHA:90349
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Premature thelarche, Localized skin lesion, Subcutaneous nodule, Abnormal form of th... ORPHA:371428
Xeroderma Pigmentosum, Complementation Group D
Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Melanoma, Conjunctivi... OMIM:278730
Marburg Hemorrhagic Fever
Back pain, Anorexia, Uveitis, Leukopenia, Conjunctival hyperemia, Abnormal lymphocyte morphology,... ORPHA:99826
Gm1-Gangliosidosis, Type I
Hepatomegaly, Short neck, Splenomegaly, Kyphosis, Vacuolated lymphocytes, Dilated cardiomyopathy,... OMIM:230500
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... ORPHA:85450
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Turcot Syndrome With Polyposis
Astrocytoma, Epidermoid cyst, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervo... ORPHA:99818
Orofaciodigital Syndrome Type 1
Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Sparse hair, Chronic otit... ORPHA:2750
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Respiratory insufficiency due to muscle weakness, Inability to walk, Kyphosis, Crypto... OMIM:611890
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Recurrent urinary tract infections, Lumbar hyperlordosis, Decreased response to growth... OMIM:619234
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Trisomy 13
High, narrow palate, Capillary hemangioma, Iris coloboma, Preauricular pit, Abnormal eyelash morp... ORPHA:3378
Lowry-Maclean Syndrome
Inguinal hernia, Corneal opacity, Hypospadias, Congenital diaphragmatic hernia, Bilateral cryptor... ORPHA:2409
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Ataxia, Attention deficit hyperactivity disorder OMIM:620007
Harlequin Ichthyosis
Recurrent respiratory infections, Cataract, Sudden cardiac death, Self-injurious behavior, Erythr... ORPHA:457
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... OMIM:602390
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Hypospadias, Kyphosis, Aplasia/Hypoplasia of the lungs, Scolios... ORPHA:1548
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Scrub Typhus
Macule, Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Splenomegaly, Meningitis, ... ORPHA:83317
American Trypanosomiasis
Hepatomegaly, Skin rash, Myocarditis, Localized skin lesion, Splenomegaly, Congestive heart failu... ORPHA:3386
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibrosis, Neoplasm of the gal... ORPHA:171
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Dental malocclusion, Platyspondyly, Scoliosis, Recurrent otitis media, Se... OMIM:608940
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Abnormal fingernail morphology, Open bite, Den... ORPHA:3079
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts, Thin vermilion border, Scaling skin, Erythroderma, Dry skin, Ventriculomegaly OMIM:609180
Cutis Laxa, Autosomal Dominant 1
Inguinal hernia, Redundant skin, Dyspnea, Bronchiectasis, Cutis laxa, Uterine prolapse, Emphysema... OMIM:123700
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Sacral dimple, Redundant neck skin, Hypospadias, Hypertelorism, Proptosis, Shawl s... OMIM:239710
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Subcutaneous nodule, Lipogranulomatosis, Arthritis, Irritability, Per... OMIM:228000
Essential Thrombocythemia
Transient ischemic attack, Abnormality of thrombocytes, Myelodysplasia, Myocardial infarction, Sp... ORPHA:3318
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Anemia, Sclerotic vertebral endplates, Th... OMIM:611490
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... OMIM:613736
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Decreased response to growth hormone stimulation test, External genital hyp... ORPHA:177907
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:602483
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Distichiasis, Anemia ORPHA:2598
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Respiratory insufficiency due to muscle wea... OMIM:300718
Temple Syndrome
Few cafe-au-lait spots, Decreased response to growth hormone stimulation test, Precocious puberty... ORPHA:254516
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Dental crowding, Paroxysmal supraventricular tachycardia, Toenail dyspl... OMIM:617877
Niemann-Pick Disease, Type A
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Spleno... OMIM:257200
Dextrocardia
Abnormal EKG, Abnormal reproductive system morphology, Abnormality of the spleen, Hydrocephalus, ... ORPHA:1666
Gm1 Gangliosidosis
Mandibular prognathia, Abnormal form of the vertebral bodies, Aspiration pneumonia, Cherry red sp... ORPHA:354
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hep... ORPHA:79259
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Epicanthus, Abnormal intervertebral disk morphology, Abnormal fingernail morph... ORPHA:2701
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypoplastic vertebral b... OMIM:252940
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Ataxia, Hypertelorism, Kyphosis, Gait disturbance, Scoliosis ORPHA:85317
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis, Thrombocytopenia ORPHA:3327
Mucopolysaccharidosis, Type Vi
Anterior wedging of L1, Hepatomegaly, Lumbar hyperlordosis, Tricuspid regurgitation, Anterior wed... OMIM:253200
Immunodeficiency 22
Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Capillary ... OMIM:615758
Neurofibroma
Skin tags, Facial neoplasm, Multiple intestinal neurofibromatosis, Intestinal bleeding, Palmar ne... ORPHA:252183
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Histiocytoid Cardiomyopathy
Hepatomegaly, Corneal opacity, Cardiomegaly, Hydrocephalus, Tachypnea, Renal cyst, Polycystic ova... ORPHA:137675
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Trisomy 17P
Hypoplasia of penis, Short neck, Micrognathia, Orofacial cleft, High palate, Generalized hirsutis... ORPHA:261290
Adenocarcinoma Of The Anal Canal
Anal canal adenocarcinoma, Neoplasm of the skeletal system, Skin ulcer, Lymphadenopathy, Neoplasm... ORPHA:424016
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... OMIM:615214
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Lymphoproliferative disorder, S... ORPHA:90033
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Hypertelorism, Abnormal pulmonary interst... OMIM:617180
Cerebellar-Facial-Dental Syndrome
Cataract, Short neck, Sparse eyebrow, Cryptorchidism, Micrognathia, Dental malocclusion, Alveolar... ORPHA:444072
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Gait disturbance, Deeply set eye, Scoliosis ORPHA:2429
Branchio-Oculo-Facial Syndrome
Deep philtrum, Orofacial cleft, Postauricular pit, Microcornea, Premature graying of hair, High p... ORPHA:1297
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Bethlem Myopathy 2
Kyphosis, Atrophic scars, Flexion contracture, Scoliosis OMIM:616471
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Communicating hydrocephalus, Hyperparathyroidism, Ventriculomegaly, Inguina... OMIM:618188
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Unilateral renal agenesis, Hypoplas... OMIM:101800
Ck Syndrome
Epicanthus, Hyperactivity, Dental crowding, Hyperlordosis, Almond-shaped palpebral fissure, Kypho... OMIM:300831
Familial Adenomatous Polyposis 4
Astrocytoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Atypical Rett Syndrome
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Kyphosis, Inability to walk, Ton... ORPHA:3095
Diamond-Blackfan Anemia
Pure red cell aplasia, Short neck, Micrognathia, Low anterior hairline, Reticulocytopenia, Leukop... ORPHA:124
Shashi-Pena Syndrome
Hypertelorism, Kyphosis, Mild fetal ventriculomegaly, Proptosis, Capillary malformation, Scoliosi... OMIM:617190
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Inability to walk, Gait ataxia, Dyspha... ORPHA:500180
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Micropenis, Hepatic steatosis, Self-mutilation, Hemolytic anemia, Hepatomegaly,... OMIM:619487
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Fair hair, Hypospadias, Eczema, Recurrent herpes, Hyperpigmented/hypopigmented macu... OMIM:620331
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurre... OMIM:252900
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Tracheomalacia, Hypertelorism, Short neck, Kyphosis, Male pse... ORPHA:140
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Corneal opacity, Micrognath... OMIM:607015
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Abnormality of the kidney, Epistaxis, Myocardial infarction, Giant pl... OMIM:155100
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia, Dyspnea, Sub... ORPHA:324
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Asthma, Pleural thickening, Bronchiectasis, Hypochromic microcytic anemia, Decre... OMIM:619632
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia OMIM:220200
Larsen-Like Syndrome
Kyphoscoliosis, Dental malocclusion, Cleft palate, Recurrent otitis media, Malar flattening OMIM:608545
Eec Syndrome
Decreased response to growth hormone stimulation test, Orofacial cleft, Urethral atresia, Coarse ... ORPHA:1896
Edinburgh Malformation Syndrome
U-Shaped upper lip vermilion, Jaundice, Hydrocephalus, Frontal hirsutism OMIM:129850
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Prur... ORPHA:53035
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Prurit... OMIM:607626
Fanconi Anemia, Complementation Group D2
Anemic pallor, Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Renal d... OMIM:227646
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Proptosis, Attention deficit hyperactivity disorder, Goiter OMIM:274300
Lateral Meningocele Syndrome
Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Hypertelorism, Cryptorchidism, Meningocele,... ORPHA:2789
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Alexander Disease
Ataxia, Hydrocephalus, Dysmetria, Microcoria, Increased CSF protein concentration OMIM:203450
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... OMIM:152700
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Anorexia, Megaloblastic anemia, Congestive heart failure, Paroxysmal atrial tachy... ORPHA:49827
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scaling skin, Atrichia, Periungual erythema, Dystrophic fingernails, Absent eyebrow, Alopecia, Mu... OMIM:308205
Cerebellofaciodental Syndrome
Cataract, Short neck, Sparse eyebrow, Cryptorchidism, Aggressive behavior, Dental malocclusion, F... OMIM:616202
Triploidy
Omphalocele, Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Hypertelorism, Short neck,... ORPHA:3376
Typhoid
Macule, Hepatomegaly, Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Splenome... ORPHA:99745
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Wide mouth, Polycystic kidney dysplasia, ... OMIM:608776
Trichinellosis
Skin rash, Abnormal cerebrospinal fluid morphology, Trismus, Increased circulating IgE level, Cen... ORPHA:863
Hypomelanosis Of Ito
Cataract, Hypertelorism, Kyphosis, Macular hypopigmented whorls, streaks, and patches, Scoliosis,... OMIM:300337
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Sepsis, Mele... ORPHA:319218
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Coarse hair, Micropenis, Pancreatic ... ORPHA:83617
Orofaciodigital Syndrome I
Hamartoma of tongue, Hypertelorism, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Ovarian cy... OMIM:311200
Robinow Syndrome, Autosomal Dominant 3
Short neck, Micrognathia, Downturned corners of mouth, Clitoral hypoplasia, Vesicoureteral reflux... OMIM:616894
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu... OMIM:618223
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Sacral dimple, Dental crowding, Cleft soft palate, Kyphoscoliosis, Micr... OMIM:616331
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Dilated third ventricle, Kyphosis, Cryptorchidism, Asthma, Hydr... ORPHA:500055
Sialuria
Smooth philtrum, Hepatomegaly, Epicanthus, Thin upper lip vermilion, Splenomegaly, Synophrys, Low... OMIM:269921
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunodeficiency 40
Hepatomegaly, Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic granuloma, T l... OMIM:616433
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Dandy-Walker malformation, Osteomyelitis, Generalized hirsutism, Skin ulcer ORPHA:2218
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Abnormality of the dentition, Mandibular osteomyeli... ORPHA:53
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Epistaxis, Lymphoma, Neuroblast... OMIM:601399
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Alopecia, Aplastic anemia, Cryptorchidism, Urethral stenosis, F... OMIM:613990
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Bundle branch block, Short neck... ORPHA:373
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Lymphadenopathy, Pr... ORPHA:79477
Cockayne Syndrome Type 3
Dry hair, Microcornea, Premature graying of hair, Lentiglobus, Hepatomegaly, Renal hypoplasia, Ca... ORPHA:90324
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Short neck, Cryptorchidism, Hydrocephalus, Flexion contracture, Respiratory insuff... ORPHA:1865
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Recurrent upper respiratory tract infections, Gingival overgrowt... OMIM:217090
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Sudden cardiac death, Leuko... ORPHA:764
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Hydrocephalus, Inability to walk by childhood/adolescence, Flexion contracture, St... ORPHA:99947
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bifid scrotum, Abnormal curvature of the vertebral column, Deeply set eye, Tics, Compu... OMIM:619475
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Pruritus, Corneal erosion, Erythroderma, Abnormality of the nail, Ectropion ORPHA:79394
Diamond-Blackfan Anemia 21
Unilateral ptosis, Aortic regurgitation, Micrognathia, Erythroid hypoplasia, Synophrys, Thrombocy... OMIM:620072
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tented upper lip vermilion, Micrognathia, Renal cyst, Neutropenia, Vesicour... OMIM:618460
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Melanosis, Neurocutaneous
Choroid plexus papilloma, Numerous congenital melanocytic nevi, Hydrocephalus, Melanoma, Dandy-Wa... OMIM:249400
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Epicanthus, Sacral dimple, Hypospadias, Malfor... OMIM:614175
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Thyroid carcinoma, Pancreatic aden... ORPHA:99880
Mucopolysaccharidosis Type 3
Adenoiditis, Cardiomegaly, Synophrys, Atrioventricular block, Abnormal form of the vertebral bodi... ORPHA:581
Smith-Kingsmore Syndrome
Smooth philtrum, Curly hair, Ventriculomegaly, Thin upper lip vermilion, Cryptorchidism, Wide mou... OMIM:616638
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ... OMIM:228300
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Leukopenia, Cardiomyopath... ORPHA:27
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of... ORPHA:141083
Fucosidosis
Cardiomegaly, Anterior beaking of thoracic vertebrae, Vacuolated lymphocytes, Tortuosity of conju... OMIM:230000
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi... OMIM:601957
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Sparse hair, Microdontia, Decreased cir... OMIM:620005
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hemolytic anemia, Hepatomegal... OMIM:615846
Baralle-Macken Syndrome
Cataract, Inability to walk, Kyphosis, Cafe-au-lait spot, Striae distensae OMIM:619255
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Microangiopa... ORPHA:54057
Becker Nevus Syndrome
Lipoatrophy, Hypermelanotic macule, Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Spi... ORPHA:64755
Mosaic Trisomy 9
Hypoplasia of penis, Short neck, Asplenia, Micrognathia, Hemivertebrae, High palate, Abnormality ... ORPHA:99776
Noonan Syndrome 14
Aortic regurgitation, Lymphopenia, Epicanthus, Curly hair, Lacrimal duct stenosis, Short neck, Sp... OMIM:619745
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Micrognathia, D... OMIM:609757
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Reduced int... OMIM:608594
Alg12-Cdg
Redundant skin, Micrognathia, Sepsis, Short philtrum, Micropenis, Hypospadias, Partial absence of... ORPHA:79324
Bohring-Opitz Syndrome
Sacral dimple, Neonatal respiratory distress, Supernumerary nipple, Hypertelorism, Flexion contra... OMIM:605039
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Episodic tachypnea, Hypertelorism, Hydrocephalus, Apneic episodes in infancy, D... ORPHA:163961
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Everted lower lip vermilion, Nail dystrophy, Nail dysplasia, Erythroderma, Sparse hair,... OMIM:242300
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Prolonged QT interval, Cataract, Osteoma cutis, Decreased response to ... ORPHA:79444
Schinzel-Giedion Syndrome
Short neck, Micrognathia, Abnormality of the gingiva, Renal cyst, Short philtrum, High palate, Sh... ORPHA:798
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p... OMIM:231200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Restri... OMIM:606612
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Skin rash, Maculopapular exanthema, Microscopic hematuria, Myocarditi... ORPHA:319213
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Astrocytoma, Lymphoma, Polycystic ovaries, Generalized lipodyst... ORPHA:79086
Ogden Syndrome
Redundant neck skin, Redundant skin, Abnormal eyelid morphology, Short neck, Microvesicular hepat... OMIM:300855
Desbuquois Dysplasia 1
Waddling gait, Neonatal respiratory distress, Hyperlordosis, Short neck, Kyphosis, Developmental ... OMIM:251450
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cataract, Ataxia, Aggressive behavior, Hypertelorism, Hydrocephalus, Irritability, Self-injurious... OMIM:619833
Parathyroid Carcinoma
Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Thyroid carcinoma, Pancreatic aden... ORPHA:143
Mogs-Cdg
Hepatomegaly, Thoracic scoliosis, Alopecia, Fair hair, External genital hypoplasia, Cardiomegaly,... ORPHA:79330
Immunodeficiency 92
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremi... OMIM:619652
Kniest Dysplasia
Cataract, Aplasia/Hypoplasia of the lens, Short neck, Lens luxation, Hypoplasia of the odontoid p... ORPHA:485
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Cataract, Corneal opacity, Abnormality of the kidney, Protruding tong... ORPHA:93400
3C Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Ventriculomegaly, Hypospadias, Inguinal he... ORPHA:7
Trisomy 20P
Short neck, Micrognathia, Low anterior hairline, Abnormal form of the vertebral bodies, Downturne... ORPHA:261318
Wolf-Hirschhorn Syndrome
Sclerocornea, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Hernia, Meg... ORPHA:280
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Inguinal hernia, Congenital diaphragmatic hernia, Hypertelorism, Cut... OMIM:614437
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Colpocephaly, Renal cyst OMIM:614870
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Sparse scalp hair, Alopecia, Sparse eyelashes, Dental crowding, Micrognathia, ... OMIM:614008
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Hydrocephalus, ... ORPHA:244
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Diamond-Blackfan Anemia 1
Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Pallor... OMIM:105650
Rift Valley Fever
Back pain, Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, CSF pleocytosis, Severe ... ORPHA:319251
Meier-Gorlin Syndrome 1
Respiratory distress, Cryptorchidism, Hypoplastic labia minora, Emphysema, Hemivertebrae, Flexion... OMIM:224690
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Perianal erythema, Splenomegaly, Paronychia, Hypogeusia, Recurrent candida infectio... OMIM:201100
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Kyphosis, Depression, Neoplasm, Agitation, Thin skin, Macronodular adrenal h... OMIM:219080
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Complement Factor H Deficiency
Chronic kidney disease, Thickened glomerular basement membrane, Hematuria, Recurrent bacterial in... OMIM:609814
Fanconi Anemia
Abnormal eyelid morphology, Micrognathia, Leukopenia, Abnormality of the liver, Neoplasm, High pa... ORPHA:84
Mucopolysaccharidosis, Type Iva
Waddling gait, Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, ... OMIM:253000
2P15P16.1 Microdeletion Syndrome
High palate, Multicystic kidney dysplasia, Sparse eyebrow, Scoliosis, Narrow mouth, Retrognathia,... ORPHA:261349
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria ORPHA:79238
Desbuquois Syndrome
Proptosis, Camptodactyly of finger, Scoliosis, Short neck ORPHA:1425
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Pruritus, Splenomegaly, Jaundice, Cholestasis OMIM:620010
Malaria
Anemia, Acute kidney injury, Thrombocytopenia ORPHA:673
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Pancytopenia, Cataract, Corneal opacity, Ataxia, Pneumonia, Short ne... ORPHA:309282
Isolated Polycystic Liver Disease
Back pain, Hepatomegaly, Gastrointestinal hemorrhage, Polycystic liver disease, Abnormality of th... ORPHA:2924
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Alopecia, Aplasia/Hypoplasia of the skin, Cataract, P... ORPHA:974
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Hypoplasia... OMIM:234050
Rothmund-Thomson Syndrome
Aplastic anemia, Selective tooth agenesis, Squamous cell carcinoma, Neutropenia, Sparse hair, Mic... ORPHA:2909
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Retinal hemorrhage, Recurrent infec... ORPHA:88
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Hydrocephalus, Bicornuate uterus OMIM:258320
Peroxisome Biogenesis Disorder 5A (Zellweger)
Micrognathia, Renal cyst, High palate, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid r... OMIM:614866
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis, White scaling skin, Erythroderma OMIM:604777
Pettigrew Syndrome
Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Flexion contracture, G... OMIM:304340
Oculoectodermal Syndrome
Hyperactivity, Epidermal nevus, Supernumerary nipple, Short neck, Preauricular skin tag, Pineal c... OMIM:600268
Bohring-Opitz Syndrome
Recurrent respiratory infections, Ventriculomegaly, Apnea, Nephroblastoma, Cardiomegaly, Hypertel... ORPHA:97297
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... OMIM:617780
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Hypertelorism, Aggressive behavior, Short neck, Proptosis, Thoracic kyphosis, Scoliosis OMIM:620250
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Immunodeficiency 32A
Lymphadenitis, BCGitis, Recurrent infections, Lymphadenopathy, Granuloma OMIM:614893
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Gait disturbance, Ataxia, Scoliosis ORPHA:101075
Aicardi-Goutières Syndrome
Myositis, Cardiomegaly, Chronic CSF lymphocytosis, Eyelid coloboma, Micropenis, Chilblains, Rayna... ORPHA:51
Distal Triplication 15Q
Abnormal external genitalia, Corneal dystrophy, Hypertelorism, Kyphosis, Hydrocephalus, Flexion c... ORPHA:314588
Robinow Syndrome
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Hemivertebrae, Orofaci... ORPHA:97360
Muenke Syndrome
Hypermelanotic macule, Hypertelorism, Hydrocephalus, Hypopigmented skin patches, Proptosis ORPHA:53271
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Micrognathia, Splenomegaly, High, narrow palate, Telangiectasia, Nail dysplasia, He... OMIM:608799
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Gait disturbance ORPHA:26
Dubowitz Syndrome
Aplastic anemia, Micrognathia, Hypoplasia of the iris, High palate, Otitis media, Megalocornea, D... OMIM:223370
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Proptosis ORPHA:98757
Drug-Induced Lupus Erythematosus
Pericarditis, Petechiae, Thrombocytopenia, Prolonged QTc interval, Hematuria, Malar rash, Serosit... ORPHA:231111
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Preauricular pit, Microretrognathia, Lacrimal duct stenosis, Carious teeth, Periorbital dermoid c... OMIM:615560
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Ataxia, Short neck, Oral-pharyngeal dysphagia, Kyphosis, Hypertelorism, Prominent ... OMIM:300966
Multiple Pterygium-Malignant Hyperthermia Syndrome
Inguinal hernia, Small scrotum, Camptodactyly of finger, Kyphosis, Cryptorchidism, Dyspnea, Naevu... ORPHA:2215
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Prolonged QT interval, Cataract, Osteoma cutis, Decreased response to ... ORPHA:79443
Biotinidase Deficiency
Alopecia, Skin rash, Recurrent viral infections, Myelopathy, Recurrent candida infections, Organi... ORPHA:79241
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus, Proptosis, Scoliosis, Shallow orbits, Vertebral compr... OMIM:112240
3-Methylglutaconic Aciduria Type 4
Cataract, Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Chromosome 17Q12 Deletion Syndrome
Mandibular prognathia, Micrognathia, Pica, Renal cyst, High palate, Multicystic kidney dysplasia,... OMIM:614527
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Micrognathia, Synophrys, Low anterior hairline, Oligodontia, High palate, Short ... OMIM:617061
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Hypertrichosis, Abnormal lymphatic vessel morphology, Anemia, ... ORPHA:2330
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Albinism, Melanocytic nevus, Melanoma, Basal cell carcinoma, Squamous c... ORPHA:79434
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Redundant neck skin, Short neck, Micrognathia, High palate, Abnormality of the uterus, Abnormal f... ORPHA:1655
Filippi Syndrome
Ambiguous genitalia, Cryptorchidism, Proptosis OMIM:272440
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Linear Verrucous Nevus Syndrome
Ventriculomegaly, Cataract, Astrocytoma, Verrucous papule, Neoplasm of the central nervous system... ORPHA:2611
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Elevated he... OMIM:269700
Van Maldergem Syndrome 1
Irregular dentition, Sacral dimple, Epicanthus, Hypospadias, Tented upper lip vermilion, Microgna... OMIM:601390
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin, Persistent human papillomavirus infection OMIM:618231
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Myelo... ORPHA:729
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... OMIM:600175
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Hydrocephalus, Chronic kidney disease, Cholestasis, Orofacial cleft, ... OMIM:615630
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Kyphosis, Corneal erosion, Erythema, Scoliosis, Dry skin ORPHA:816
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Dental crowding, Decreased heart rate variabili... OMIM:619005
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi... ORPHA:264580
Hemorrhagic Fever-Renal Syndrome
Back pain, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitia... ORPHA:340
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Recurrent respiratory infections, Thick hair, Splenomegaly, Irritability, Cirrhosis... OMIM:613489
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Ataxia, Hypertelorism, Kyphosis, Unsteady gait, Scoliosis OMIM:300861
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Hydrocephalus, Gait disturbance, Scoliosis, Umbilical hernia ORPHA:2181
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Hypertelorism, Kyphos... ORPHA:2075
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopathy, Hepatic fibrosis, Hypogonad... OMIM:613313
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Severe infection, Hy... ORPHA:251380
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent pneumonia, Decreased proportion of CD4-positive helper... OMIM:615518
Copper Deficiency, Familial Benign
Curly hair, Early balding, Anemia, Seborrheic dermatitis OMIM:121270
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... OMIM:612260
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hyperglycorrh... ORPHA:90065
Xeroderma Pigmentosum, Complementation Group B
Cataract, Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Dermal atrophy, Cu... OMIM:610651
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Ovoid vertebral bodies, Myelodysplasia, Throm... OMIM:260400
Distal Deletion 10Q
Lumbar hyperlordosis, Ataxia, Aggressive behavior, Unsteady gait, Hypotelorism, Recurrent infecti... ORPHA:96148
Bardet-Biedl Syndrome 4
Abnormality of the kidney, External genital hypoplasia, Abnormality of the dentition, Cryptorchid... OMIM:615982
Cardiofaciocutaneous Syndrome
Brittle hair, Redundant skin, Short neck, High palate, Sparse hair, Dystrophic fingernails, Abnor... ORPHA:1340
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Anemic pallor, Hypergonadotropic hypogonadism, Renal ... OMIM:227650
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu... OMIM:619523
Mucopolysaccharidosis Type 6
Sinusitis, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Thick lower lip vermilion,... ORPHA:583
Lipoid Proteinosis
Recurrent respiratory infections, Acne, Abnormal oral mucosa morphology, Pustule, Abnormality of ... ORPHA:530
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Acne, Cryptorchidism, Hydrocephalus, Dental mal... OMIM:101200
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Micrognathia, Sepsis, Abnormal le... OMIM:619991
Propionic Acidemia
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Thrombocytopenia, ... OMIM:606054
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis... ORPHA:536516
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Prolonged QT interval, Cataract, Decreased response to growth hormone ... ORPHA:94089
Fetal Parvovirus Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy, Ascites, Anemia ORPHA:295
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Preauricular pit, Umbilical hernia, Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Kyphoscoliosis, Respiratory insufficiency, Cervical spine instability, Cutis laxa, Platyspondyly,... OMIM:615349
Spondylodysplastic Ehlers-Danlos Syndrome
Numerous nevi, Multiple joint contractures, Flexion contracture, Megalocornea, Abnormal vertebral... ORPHA:536471
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Interstitial pn... OMIM:620296
Momo Syndrome
Delayed eruption of teeth, Epicanthus, Hyperconvex nail, Short neck, Thick lower lip vermilion, D... OMIM:157980
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Anemic pallor, Hypergonadotropic hypogonadism, Renal ... OMIM:600901
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Micrognathia, Thrombo... OMIM:259720
Arboleda-Tham Syndrome
Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, Conjunctivitis, Sho... OMIM:616268
Koolen-De Vries Syndrome
High palate, Widely spaced teeth, Vesicoureteral reflux, Iris hypopigmentation, Vertebral fusion,... OMIM:610443
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Kyphoscoliosis, Cardiomegaly OMIM:300886
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Hydrocephalus, Ataxia, Pulmonary hypoplasia OMIM:618174
Arthrogryposis, Distal, Type 5
Keratoconus, Reduced forced expiratory volume in one second, Kyphosis, Keratoglobus, Deeply set e... OMIM:108145
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Biliary tract abnorm... ORPHA:79301
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hepatic ste... ORPHA:1606
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Epicanthus, Median cleft lip, Natal tooth, Hamartoma of tongue, Short neck, Splenom... OMIM:269860
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Ret... ORPHA:79078
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Diencephalic Syndrome
Neoplasm of the nervous system, Long penis, Hydrocephalus ORPHA:1672
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Microcornea, Eyelid coloboma, Iris coloboma, M... ORPHA:2308
Lysinuric Protein Intolerance
Hepatomegaly, Thrombocytopenia, Splenomegaly, Stage 5 chronic kidney disease, Cutis laxa, Fine ha... OMIM:222700
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis, Cataract, Micrognathia, Trismus, Congestive heart failure, Recurrent pneumonia... OMIM:616271
Neu-Laxova Syndrome
Ventriculomegaly, Cataract, External genital hypoplasia, Spina bifida, Hypertelorism, Flexion con... ORPHA:2671
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hypertelorism, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Proptos... ORPHA:1908
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ovaries, Recurrent infections, Hep... ORPHA:79240
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Lymphopenia, Osteomyeli... OMIM:614162
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Hypermelanotic macule, ... OMIM:259600
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Hepatomegaly, Pericarditis, Thin upper lip vermilion, Hypergonadotropic... OMIM:212065
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Portal ... ORPHA:1454
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Increased mean platelet volum... ORPHA:182050
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Renal cyst, Multiple l... OMIM:135150
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Myelodysplasia, Pruritus, Splenomegaly, Chroni... ORPHA:71493
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormality of the pancrea... ORPHA:54251
Hemangioma-Thrombocytopenia Syndrome
Hemangioma, Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Focal Dermal Hypoplasia
Ridged nail, Ureteral duplication, Brittle hair, Clitoral hypoplasia, Oligodontia, Absent fingern... OMIM:305600
Congenital Myopathy 22B, Severe Fetal
Waddling gait, Hepatomegaly, Thoracic scoliosis, Respiratory distress, Hip contracture, Shoulder ... OMIM:620369
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell... OMIM:618398
Refractory Celiac Disease
Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In... ORPHA:398063
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Bainbridge-Ropers Syndrome
Supernumerary nipple, Hypertelorism, Precocious puberty, Inability to walk, Cryptorchidism, Recur... OMIM:615485
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Proptosis, Hypochromic anemia OMIM:606893
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Alopecia, Skin rash, Pneumonia, Proteinuria, Increased circulating IgA level, E... ORPHA:2298
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Hydroureter, Selective tooth agenesis, Persistence of primary teeth, A... OMIM:305620
Koolen-De Vries Syndrome
Ureteral duplication, High, narrow palate, Vertebral segmentation defect, Microdontia, Vesicouret... ORPHA:96169
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Cataract, Telangiectasia of the skin, Decreased response to growth hormone... OMIM:616007
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, A... ORPHA:449563
Immunodeficiency 33
Delayed eruption of teeth, Pneumocystis jirovecii pneumonia, Conical tooth, Increased circulating... OMIM:300636
Rat-Bite Fever
Back pain, Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema ... ORPHA:31205
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Recurrent opportunistic infections, Bone marrow hypocellularity, Cirrhosis, Nail dy... OMIM:613987
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Hyperlordosis, Hypertelorism, Kyphosis, Short neck, Proptosis,... ORPHA:1798
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia OMIM:616176
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Epicanthus, Pancytopenia, Skin rash, Thin upper lip vermilion, Homocystinuria, Mega... OMIM:277380
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Epicanthus, Hypospadias, Short lingual frenulum, Short uvula, Renal hypoplasia, Cleft palate, Fin... OMIM:614091
Cole-Carpenter Syndrome 2
Hypertelorism, Kyphosis, Hydrocephalus, Platyspondyly, Proptosis, Dentinogenesis imperfecta OMIM:616294
Mucolipidosis Ii Alpha/Beta
Brittle hair, Cardiomegaly, Micrognathia, Sparse hair, Megalocornea, Progressive alveolar ridge h... OMIM:252500
Joubert Syndrome 18
Occipital encephalocele, Kyphoscoliosis, Cleft palate, Renal cyst, Horseshoe kidney, Lobulated to... OMIM:614815
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Th... OMIM:243500
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Back pain, Ascites, Polycystic liver disease, Renal cyst OMIM:174050
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Lymphocytoma cutis, Sterile pyuria, Tu... ORPHA:449395
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Diffuse leiomyomatosis, Renal insufficiency, Glomerular basement membrane lam... OMIM:301050
Sengers Syndrome
Cataract, Cardiac arrest, Sudden cardiac death, Developmental cataract, 3-Methylglutaconic acidur... OMIM:212350
Diastrophic Dysplasia
Recurrent respiratory infections, Camptodactyly of finger, Hypertelorism, Kyphosis, Cryptorchidis... ORPHA:628
Diaphanospondylodysostosis
Delayed vertebral ossification, Epicanthus, Absent in utero ossification of vertebral bodies, Nep... OMIM:608022
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Pancytopenia, Aplastic anemia, Abnormality of the dentition, Dilated cardiomy... OMIM:613989
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Gait disturbance, Ataxia, Scoliosis ORPHA:101078
Cryptococcosis
Osteomyelitis, Lymphoid leukemia, Pneumonia, Mediastinal lymphadenopathy, Peritonitis, Hydrocepha... ORPHA:1546
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Keppen-Lubinsky Syndrome
Lipodystrophy, Dyspnea, Recurrent pneumonia, Flexion contracture, Upper airway obstruction, Respi... ORPHA:435628
Urachal Cyst
Abdominal mass, Abscess, Dysuria, Pyuria, Leukocytosis, Peritonitis, Erythema, Severe infection, ... ORPHA:488
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida, Hypertelorism ORPHA:1931
Rhyns Syndrome
Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis, Hypopituitarism, Ptosis ORPHA:140976
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Neurofibromatosis, Type I
Hypopigmented macule, Astrocytoma, Rhabdomyosarcoma, Hypertelorism, Aqueductal stenosis, Spina bi... OMIM:162200
Beare-Stevenson Cutis Gyrata Syndrome
Skin tags, Preauricular pit, Bifid scrotum, Redundant neck skin, Hypospadias, Respiratory distres... OMIM:123790
Classical-Like Ehlers-Danlos Syndrome Type 2
Sacral dimple, Widened atrophic scar, Thoracic scoliosis, Redundant skin, Kyphoscoliosis, Alopeci... ORPHA:536532
2Q37 Microdeletion Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Eczema, Supernumerary nipple, Highly arched eyeb... ORPHA:1001
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Wolff-Parkinson-White syndrome, Epicanthus, Abnormal dental morphology... ORPHA:369950
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Hypospadias, Hypertelorism, Cryptorchidism, Hydrocephalus, Camptodactyly of toe,... OMIM:175700
Focal Dermal Hypoplasia
Subcutaneous nodule, Hypoplasia of the iris, Papilloma, Iris coloboma, Abnormality of the nail, M... ORPHA:2092
Williams-Beuren Syndrome
Premature graying of hair, Nephrocalcinosis, Microdontia, Vesicoureteral reflux, Micropenis, Pelv... OMIM:194050
Ellis Van Creveld Syndrome
Hypospadias, Cryptorchidism, Epispadias, Acute leukemia, Aplasia/Hypoplasia of the lungs, Emphyse... ORPHA:289
Houge-Janssens Syndrome 1
Hypertelorism, Hydrocephalus, Gait ataxia, Deeply set eye, Scoliosis, Ventriculomegaly OMIM:616355
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dental malocclusion, High palate, Dandy-Walker malformation OMIM:310400
Ifap Syndrome 2
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail d... OMIM:619016
Overlap Myositis
Abnormality of the kidney, Raynaud phenomenon, Severe infection, Arthritis, Leukopenia, Hypertens... ORPHA:206572
Fraser Syndrome 1
Dental crowding, Malformed lacrimal duct, Abnormal thymus morphology, Micropenis, Cryptophthalmos... OMIM:219000
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Sclerocornea, Short neck, Facial capillary hemangioma, Congenital diaphragma... ORPHA:818
Joubert Syndrome 14
Encephalocele, Epicanthus, Tented upper lip vermilion, Highly arched eyebrow, Hydrocephalus, Meni... OMIM:614424
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Microcornea, High palate, Short philtrum, Sparse hair, Clitoral hyper... OMIM:616449
Koolen-De Vries Syndrome Due To A Point Mutation
Numerous nevi, Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal c... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Numerous nevi, Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal c... ORPHA:363958
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Ventriculomegaly, Everted upper lip vermilion, Petechiae, Cardiomegaly, Micrognathi... OMIM:608013
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splen... OMIM:612714
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Decreased testicular size, Thrombocytopenia, Developmental cataract OMIM:601815
Cold Agglutinin Disease
Back pain, Hemolytic anemia, Hepatomegaly, Abnormal urinary color, Splenomegaly, Lymphadenopathy,... ORPHA:56425
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubu... OMIM:251000
Familial Mediterranean Fever
Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Nephropathy, Meningitis, Pancreatitis, V... ORPHA:342
Femoral-Facial Syndrome
Thin upper lip vermilion, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal sacrum... ORPHA:1988
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Dandy-Walker malformation, Preauricular pit, Hepatomegaly, Portal hyp... OMIM:208540
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, Flexion contracture, Abnormal ovarian morphology, Microp... ORPHA:95699
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Hypoplasia of the maxil... OMIM:167730
Momo Syndrome
Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Hyperconvex nail, Short neck, T... ORPHA:2563
Intellectual Developmental Disorder, Fra12A Type
Recurrent lower respiratory tract infections, Erythroderma OMIM:136630
Poems Syndrome
Lymphoproliferative disorder, Abnormality of skin physiology, Leukonychia, Lymphadenopathy, Ascit... ORPHA:2905
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Carious teeth, Pterygium of n... OMIM:224230
Machado-Joseph Disease
Dilated fourth ventricle, Ataxia, Limb ataxia, Dysphagia, Progressive cerebellar ataxia, Proptosi... OMIM:109150
Atelosteogenesis Type I
Hypertelorism, Coronal cleft vertebrae, Platyspondyly, Proptosis, Multiple renal cysts, Pulmonary... ORPHA:1190
Sitosterolemia 1
Reticulocytosis, Tuberous xanthoma, Thrombocytopenia, Splenomegaly, Giant platelets, Xanthelasma,... OMIM:210250
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Alexander Disease Type I
Hydrocephalus, Ataxia, Scoliosis, Dysphagia ORPHA:363717
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Astrocytoma, Sclerocornea, Cryptorchidism, Hydrocephalus, N... OMIM:613001
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Cryptorc... OMIM:616835
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Hydrocephalus, Congenital, 3, With Brain Anomalies
Redundant neck skin, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation... OMIM:617967
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Tachycardia, Me... ORPHA:35858
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Leukopenia, ... ORPHA:470
Arachnoid Cyst
Back pain, Encephalocele, Enlarged fossa interpeduncularis, Inability to walk, Hydrocephalus, Sev... ORPHA:2356
Fibrosis Of Extraocular Muscles, Congenital, 3C
Thin upper lip vermilion, Highly arched eyebrow, Kyphosis, Congenital bilateral ptosis, Congenita... OMIM:609384
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Gastrointestinal stroma tumor, Mediastinal ly... ORPHA:139411
Nephroblastoma
Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Hematuria, Neoplasm, Hypertension, ... ORPHA:654
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Foot osteomyelitis, Cataract, Osteomyelitis, Tongue fasciculations, Acral ulceration OMIM:162400
X-Linked Sideroblastic Anemia
Splenomegaly, Pallor, Anemia ORPHA:75563
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Lower eyelid retract... OMIM:118400
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Respiratory insu... ORPHA:352447
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Micrognathia, Renal cyst, Short philtrum, Microphallus, Compulsive behaviors, Vesi... OMIM:618454
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Hy... ORPHA:1812
Monosomy 22Q13.3
Renal dysplasia, Epicanthus, Sacral dimple, Recurrent skin infections, Palpebral edema, Hyperacti... ORPHA:48652
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Camptodactyly of finger, Hydrocephalus, Flexion contracture, Gait disturbance, Ventricu... ORPHA:272
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Lopes-Maciel-Rodan Syndrome
Kyphosis, Unsteady gait, Dysphagia, Agitation, Scoliosis, Bruxism, Abnormal repetitive mannerisms OMIM:617435
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Polycystic liver disease, Renal insufficiency, Decreased glom... ORPHA:730
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Jaundice, Anemia, Leukopenia, Hematuria, Abno... ORPHA:91547
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Ureteral duplication, Redundant skin, Cardiomegaly, Leiomyosarcoma, Neopla... ORPHA:116
Slc35A1-Cdg
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary ... ORPHA:238459
Cole-Carpenter Syndrome
Communicating hydrocephalus, Abnormal dental enamel morphology, Kyphosis, Abnormal form of the ve... ORPHA:2050
Myopathy With Extrapyramidal Signs
Hepatomegaly, Epicanthus, Hyperactivity, Tented upper lip vermilion, Short neck, Splenomegaly, Le... OMIM:615673
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Hypoplastic toenails, Cavernous hemangioma, ... OMIM:616028
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Scoliosis, Nephronophthisis, Ves... OMIM:617271
Pilomatrixoma
Pruritus, Pilomatrixoma, Subcutaneous nodule, Neoplasm of head and neck ORPHA:91414
Temple Syndrome
Micrognathia, Precocious puberty, Cryptorchidism, Hydrocephalus, Cleft palate, Bifid uvula, High ... OMIM:616222
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Ataxia, Hypertelorism, Kyphosis, Unsteady gait, Deeply set eye, Scoliosis, Difficu... ORPHA:464282
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Neoplasm of the thymus, Hypersexuality, CSF pleocytosi... ORPHA:217253
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Cataract, Palpebral edema, Micrognathi... OMIM:214110
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Anemia, Hematuria, Short philt... OMIM:185070
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downt... ORPHA:1507
Premature Aging Syndrome, Penttinen Type
Corneal opacity, Lipoatrophy, Hypertelorism, Skin nodule, Hypotelorism, Corneal stromal edema, Pr... OMIM:601812
Oculocutaneous Albinism Type 2
Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Blue irides, Iris transillu... ORPHA:79432
Craniofaciofrontodigital Syndrome
Respiratory distress, Cardiomegaly, Hypertelorism, Dyspnea, Cutis laxa, Proptosis, Scoliosis, Her... ORPHA:363705
Neuraminidase Deficiency
Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro... OMIM:256550
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
4Q21 Microdeletion Syndrome
Short neck, Hypertelorism, Kyphosis, Self-injurious behavior, Scoliosis, Abnormal repetitive mann... ORPHA:238750
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Pallor,... OMIM:615234
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Recurrent respiratory infections, Premature loss of prim... ORPHA:667
Ichthyosis Prematurity Syndrome
Pruritus, Alopecia of scalp, Allergic rhinitis, Erythroderma OMIM:608649
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Microcornea, Male urethra... ORPHA:464738
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Osteomyelitis, Skin ulcer OMIM:613640
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Multiple myeloma, Hypoten... ORPHA:188
Holoprosencephaly
Hypoplasia of penis, Short neck, Abnormality of the spleen, Synophrys, Deep philtrum, Abnormal fo... ORPHA:2162
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Cardiomegaly, Recurrent ear infections, Kyphosis, Synophrys, Broad nail, Cardiomy... OMIM:300280
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Developmental cataract, Ocular anterior segment dysgenesi... ORPHA:324416
Lacrimal Duct Defect
Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele OMIM:149700
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Urinary incontinence, Osteomyelitis, Acral ulceration OMIM:613115
Cutis Laxa, Autosomal Recessive, Type Iib
Inguinal hernia, Redundant skin, Hypertelorism, Hydrocephalus, Lack of skin elasticity, Hypotelor... OMIM:612940
Meier-Gorlin Syndrome 4
Cryptorchidism, Emphysema, Breast hypoplasia OMIM:613804
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hypermelanotic macule, Visceral angiomatosis, Hydrocephalus, Deeply set eye, Neoplasm, Nevus flam... ORPHA:60040
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, High palate, Abnormal dental pulp morphology, Subcutaneous neurofibroma,... ORPHA:363700
Pontocerebellar Hypoplasia, Type 3
Proptosis OMIM:608027
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Conjunctival icterus, Splenomegaly, Jaundice, Increased mean corpu... OMIM:194380
Rhizomelic Limb Shortening With Dysmorphic Features
Proptosis, Short neck OMIM:618821
Autosomal Recessive Distal Osteolysis Syndrome
Proptosis ORPHA:2776
Vacterl/Vater Association
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphol... ORPHA:887
Fanconi Anemia, Complementation Group F
Sacral dimple, Pneumonia, Decreased response to growth hormone stimulation test, Thrombocytopenia... OMIM:603467
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Anorexia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndr... OMIM:557000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Shallow orbits, ... ORPHA:453504
Marshall-Smith Syndrome
Hypertelorism, Proptosis, Thin skin, Scoliosis, Ventriculomegaly ORPHA:561
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Shallow orbits, ... ORPHA:352665
Desmosterolosis
Epicanthus, Aplasia/Hypoplasia of the skin, Renal agenesis, Micrognathia, Renal hypoplasia/aplasi... ORPHA:35107
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Reduced vital capacity, Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Respiratory in... ORPHA:178148
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Chemosis, Nephritis, Infe... ORPHA:73263
Fetal Akinesia Deformation Sequence 4
Short neck, Cryptorchidism, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:618393
Farber Disease
Corneal opacity, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Recurrent upp... ORPHA:333
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Omphalocele, Respiratory failure, Proptosis, Pulmonary hypoplasia, Ambiguou... OMIM:617895
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Oral ulcer, Nephrolithiasis, Arthr... OMIM:617321
Melnick-Needles Syndrome
Omphalocele, Recurrent respiratory infections, Hypertelorism, Respiratory insufficiency, Proptosi... ORPHA:2484
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Dry skin ORPHA:1954
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Goiter OMIM:274240
Three M Syndrome 2
Delayed eruption of teeth, Lumbar hyperlordosis, Hyperlordosis, Short neck, Dental malocclusion, ... OMIM:612921
Medulloblastoma
Back pain, Ataxia, Hydrocephalus, Medulloblastoma, Spinal cord tumor, Dysmetria, Neoplasm of the ... ORPHA:616
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac... OMIM:602782
Sialidosis Type 1
Cataract, Corneal opacity, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Kyphos... ORPHA:812
Hogue-Janssen Syndrome 2
Hypertelorism, Inability to walk, Hydrocephalus, Gait ataxia, Scoliosis, Ventriculomegaly OMIM:616362
Tetrasomy 5P
Preauricular pit, Pericallosal lipoma, Respiratory distress, Redundant neck skin, Recurrent respi... ORPHA:3309
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Lumbar hyperlordosis, Recurrent pneumonia, Flexion contracture, Coronal cleft vertebrae, Platyspo... OMIM:215150
Bleeding Disorder, Platelet-Type, 16
Petechiae, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impai... OMIM:187800
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hy... OMIM:616084
Tangier Disease
Hepatomegaly, Myocardial infarction, Cicatricial ectropion, Splenomegaly, Nail dystrophy, Opacifi... OMIM:205400
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... OMIM:173590
Trisomy 12P
Supernumerary nipple, Hypertelorism, Short neck, Aplasia/Hypoplasia of the iris, Proptosis ORPHA:1699
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Vaginal neoplasm, Myelodysplasia, Am... ORPHA:1052
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Hepatomegaly, Broad-based gait, Ataxia, Hepatocellular carcinoma, Microvesi... OMIM:256810
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... OMIM:613839
Oculoskeletodental Syndrome
Hepatomegaly, Epicanthus, Renal agenesis, Splenomegaly, Cryptorchidism, Low anterior hairline, Hy... OMIM:618440
Trisomy X
Epicanthus, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Depression, Upslanted palpebr... ORPHA:3375
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, High palate... OMIM:135500
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Bone marrow h... ORPHA:210136
Congenital Disorder Of Glycosylation, Type Iie
Smooth philtrum, Hepatomegaly, Neurogenic bladder, Short neck, Micrognathia, Splenomegaly, Jaundi... OMIM:608779
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Low anterior hairl... ORPHA:99843
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Apht... OMIM:249100
Necrotizing Enterocolitis
Neonatal sepsis, Shock, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropenia, Ascites... ORPHA:391673
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Epidermolytic Hyperkeratosis 1
Scaling skin, Erythroderma OMIM:113800
Axenfeld-Rieger Syndrome, Type 2
Inguinal hernia, Hypospadias, Hypertelorism, Cryptorchidism, Hydrocephalus, Microcornea, Opacific... OMIM:601499
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Pallor ORPHA:2786
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Short neck, Micrognathia, Microvesicular hepatic steatosis, Downturned corners of mouth, High pal... OMIM:300868
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Branchiooculofacial Syndrome
Short neck, Micrognathia, Renal cyst, Postauricular pit, Premature graying of hair, Sparse hair, ... OMIM:113620
Marshall-Smith Syndrome
Thoracic scoliosis, Apnea, Bilateral cryptorchidism, Thoracic kyphosis, Aspiration pneumonia, Sha... OMIM:602535
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Vasculitis, Lymphadenopat... OMIM:617099
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Dental malocclusion, Hepatosplenomegaly, Distal renal tubular acido... OMIM:259730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Cataract, Corneal opacity, Hydrocephalus, Respiratory insufficiency, Left ventr... OMIM:613153
Maternal Uniparental Disomy Of Chromosome 6
Ventriculomegaly, Eczema, Cleft upper lip, Thrombocytopenia, Cleft palate, Hydrocele testis, Cong... ORPHA:96181
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Leukocoria, Pineoblastoma, Leiomyosarcoma, Melanoma, Proptosi... ORPHA:790
Multiple Sulfatase Deficiency
Smooth philtrum, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Hydrocephalus, Coarse hai... ORPHA:585
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile ... ORPHA:85414
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic liver disease OMIM:214900
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Fine hair, Anemia, Premature graying of hair, Intestinal bleeding, Thin s... OMIM:612199
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Abnormal lung morphology, Deeply set eye, Pheochromocy... ORPHA:97685
Kabuki Syndrome
Hypoplasia of penis, Hemivertebrae, Abnormal form of the vertebral bodies, Orofacial cleft, Micro... ORPHA:2322
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hypertelorism, Band keratopathy, Hydrocephalus, Hypoplasia of the iris, Anterior synechiae of the... OMIM:614195
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Synophrys, Downturned corners of mouth, Coarse hair, High palate, Widely spaced ... OMIM:618268
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Int... OMIM:186580
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Redundant neck skin, Acne, Anterior concavity of thoracic vertebrae, Ky... OMIM:249420
Myelofibrosis
Myeloproliferative disorder, Splenomegaly, Pallor, Purpura OMIM:254450
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma ORPHA:882
Donnai-Barrow Syndrome
Omphalocele, Cataract, Congenital diaphragmatic hernia, Hypertelorism, Hypoplasia of the iris, Pr... OMIM:222448
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Hydrocephalus, Flexion contracture, Developmental cataract OMIM:613155
Schaaf-Yang Syndrome
Impulsivity, Kyphosis, Inability to walk, Cryptorchidism, Flexion contracture, Hypogonadism, Scol... OMIM:615547
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Hypergonadotropic hypogonadism, Absent facial hair, Short neck, High, narrow ... ORPHA:2183
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperconvex fingernails, Coarse hair, High palate, Widely spaced teeth, Hi... OMIM:303600
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, E... ORPHA:29207
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... ORPHA:3032
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Tooth agenesis, Vertebral s... ORPHA:1166
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Congenital diaphragmatic hernia, Hypertelorism ORPHA:380
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Sotos Syndrome
Astrocytoma, Flexion contracture, Neoplasm, Abnormal vertebral morphology, Hypospadias, Cryptorch... ORPHA:821
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Premature loss of teeth, Recurrent aspiration pneumonia, Self-mutilation, Orthostatic ... ORPHA:642
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Turnpenny-Fry Syndrome
Mandibular prognathia, Numerous nevi, Dental crowding, Downturned corners of mouth, High palate, ... OMIM:618371
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Micrognathia, Synophrys, Conical incisor, Tricuspid regurgitation, Hyperlordosis, Hypocalciuria, ... ORPHA:73223
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Splenomegaly, Increased CSF lactate, Cardiomyopathy, Agitation, Ptosis OMIM:619046
Fanconi Anemia, Complementation Group R
Hydrocephalus, Agenesis of permanent teeth, Bone marrow hypocellularity, Scoliosis, Nevus, Pelvic... OMIM:617244
Platelet Disorder, Undefined
Neuroblastoma, Impaired platelet aggregation, Thrombocytopenia, Hematological neoplasm OMIM:173420
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... OMIM:615508
Neu-Laxova Syndrome 2
Cataract, Spina bifida, Hypertelorism, Short neck, Proptosis, Scoliosis, Ventriculomegaly OMIM:616038
Chromosome 6Pter-P24 Deletion Syndrome
Skin tags, Preauricular pit, Short neck, Hypertelorism, Hydrocephalus, Umbilical hernia, Axenfeld... OMIM:612582
Lacrimoauriculodentodigital Syndrome
Micrognathia, Orofacial cleft, Microdontia, Vesicoureteral reflux, Abnormal salivary gland morpho... ORPHA:2363
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Cataract, Short neck, Coronal cleft vertebra... ORPHA:1427
Biemond Syndrome Ii
Hydrocephalus, Iris coloboma OMIM:210350
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Flexion contracture, Upper airway obstruction, Hypoplastic labia majora, Proptosis... OMIM:207410
Lacrimoauriculodentodigital Syndrome 2
Absent lacrimal punctum, Conical tooth, Carious teeth, Lacrimal duct atresia, Lacrimal duct aplas... OMIM:620192
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Conical tooth, Persistence of primary teeth, Scarring alopecia of scalp, Dental maloccl... OMIM:618727
Shprintzen-Goldberg Craniosynostosis Syndrome
Telecanthus, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Dental maloc... OMIM:182212
Prune Belly Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Multicystic kidney dysplasi... ORPHA:2970
Fg Syndrome Type 1
Sacral dimple, Broad-based gait, Hypospadias, Inguinal hernia, Facial wrinkling, Hypertelorism, P... ORPHA:93932
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Lumbar hyperlordosis, Unilateral lung agenesis, Kyphoscoliosis, Hemivertebrae... ORPHA:500150
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Epicanthus, Highly arched eyebrow, Short neck, Splenomegaly, Cr... OMIM:613563
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Cataract, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic a... ORPHA:445038
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... OMIM:598500
Lymphedema-Distichiasis Syndrome
Ectropion, Micrognathia, Yellow nails, Kyphosis, Cleft upper lip, Cleft palate, Distichiasis, Con... OMIM:153400
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Spid... ORPHA:2137
Chops Syndrome
Cataract, Hypertelorism, Splenomegaly, Cryptorchidism, Anomalous pulmonary venous return, Proptos... OMIM:616368
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Aggressive behavior, Cryptorchidism, Kyphosis, Narrow palate, Recurrent in... ORPHA:364028
Papillary Tumor Of The Pineal Region
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251915
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Trismus, Anemia, Dysphagia, Bronchiolitis, Recurrent aspiration pneum... OMIM:230900
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Aplasia cutis congenita of scalp, Abnormal repetitive mann... OMIM:194190
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Chronic infection, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the... ORPHA:1183
Jacobsen Syndrome
U-Shaped upper lip vermilion, Recurrent respiratory infections, Epicanthus, Telecanthus, Hypospad... OMIM:147791
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hydrocephalus, Hypert... ORPHA:2169
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Epicanthus, Paranasal sinus hypoplasia, Dental crowding, Multicystic kidney dysplasi... OMIM:300373
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Cryptorchidism, Methylmalonic aciduria, Normochromic anemia, Neutropenia, Pulmonary... OMIM:614857
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Recurrent skin infections, Carious teeth, Skin erosion, Corneal erosion, Narrow mouth, Dilated ca... ORPHA:89842
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Skin rash, Lymphoma, Pallor ORPHA:90036
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Hyper... ORPHA:457395
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Thromb... ORPHA:3002
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis, Synophrys, Widow's peak, Hirsutism, Deep philtrum, Gingival overgrowth, Mac... OMIM:616455
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Cardiomyopathy, A... OMIM:249270
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Hypoplastic toenails, Low anterior hairline, Downturned corners of mouth, High palate, Dandy-Walk... OMIM:220500
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Huriez Syndrome
Squamous cell carcinoma of the skin, Nail dystrophy, Small nail OMIM:181600
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Anorexia, First degree atrioventricular block, Cellular ur... ORPHA:509
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Nephronophthisis 18
Hydrocephalus, Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membran... OMIM:615862
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Hypertelorism, Kyphosis, Myopic ast... OMIM:618443
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Cardiomyop... OMIM:222300
15Q Overgrowth Syndrome
Mandibular prognathia, Dental crowding, Micrognathia, High, narrow palate, Abnormal coccyx morpho... ORPHA:314585
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Hyperlordosis, Vertebral segmentation defect, Proptosis, Scoliosis ORPHA:1323
Brittle Cornea Syndrome 1
Keratoconus, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, Molluscoid pseu... OMIM:229200
Pallister-Hall-Like Syndrome
Occipital encephalocele, Median cleft lip, Glioma, Micrognathia, Hydrocephalus, Microglossia, Cle... OMIM:241800
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Neutropenia in presence... ORPHA:228426
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Basal cell carcinoma, Squamous cell carcinom... ORPHA:79431
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis, Marked delay in eruption of permanent teeth, Onycholysis, Yellow-brown dis... OMIM:104570
Diabetic Embryopathy
Ureteral duplication, Micrognathia, Renal hypoplasia/aplasia, Abnormality of the pancreas, Crypto... ORPHA:1926
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Thrombocyt... OMIM:614171
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Short neck, Asplenia, Micrognathia, Ambiguo... OMIM:249000
15Q24 Microdeletion Syndrome
Smooth philtrum, Epicanthus, Hypospadias, Decreased response to growth hormone stimulation test, ... ORPHA:94065
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Erythema, Oligoarthrit... OMIM:614204
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Irritability OMIM:618237
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia, Posterior embryotoxon, Dandy-Walker malf... OMIM:220220
Elsahy-Waters Syndrome
Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synoph... OMIM:211380
D-Bifunctional Protein Deficiency
Hepatomegaly, Epicanthus, Fetal ascites, Micrognathia, Splenomegaly, Cholestasis, Renal cyst, Ups... OMIM:261515
Frias Syndrome
Proptosis, Hypertelorism OMIM:609640
Trichohepatoenteric Syndrome 1
Brittle hair, Hepatic fibrosis, Sparse hair, Bifid uvula, Hepatomegaly, Hypospadias, Increased me... OMIM:222470
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Redundant neck skin, Short neck, Renal hypoplasia, Renal cyst, Ureteral agenes... OMIM:236500
Central Neurocytoma
Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Depression ORPHA:73256
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... ORPHA:90795
Kleefstra Syndrome 2
Kyphosis, Self-injurious behavior, Scoliosis OMIM:617768
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Micrognathia, Hepatic melanin-like lysosomal pigmentation, Jaundice, Nephro... OMIM:208085
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal agenesis, Micrognathia, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Thin ... ORPHA:171839
Alexander Disease
Ataxia, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, Aqueductal stenosis, Hydrocephal... ORPHA:58
Distal Deletion 12Q
Short neck, Micrognathia, High, narrow palate, Ectopic kidney, Biliary atresia, Vesicoureteral re... ORPHA:96149
Chondrodysplasia With Joint Dislocations, Gpapp Type
Proptosis, Intervertebral space narrowing OMIM:614078
Hall-Riggs Syndrome
Hypertelorism, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Enamel hypoplasia OMIM:234250
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proptosis, Gait disturbance, Camptodactyly of finger ORPHA:2774
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Retrognathia, Downslanted palpebral fissures, Th... OMIM:619981
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse scalp hair, Epicanthus, Abnormality of the kidney, Micrognathia, Sparse eyebrow, Hypoplast... ORPHA:459061
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Hypertelorism, Hydrocephalus, Hemivertebrae, Abnormal form of ... ORPHA:2180
Deeah Syndrome
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... OMIM:619004
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Congestive hea... OMIM:235200
Distal Deletion 9P
Hypospadias, Hypertelorism, Short neck, Hypoplastic labia majora, Proptosis, Hernia ORPHA:1642
2,4-Dienoyl-Coa Reductase Deficiency
Ataxia, Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, Increased CSF lysine... OMIM:616034
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Inguinal hernia, Congenital diaphragmatic hernia, Hypertelorism, Short neck, Cardiomegaly, Develo... OMIM:245600
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Ventriculomegaly, Cataract, Abnormality of the dentition, Arterial rupture, Downturned corners of... OMIM:612394
Fraser-Like Syndrome
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Lathosterolosis
Hepatomegaly, Epicanthus, Cataract, Hypoplasia of penis, Abnormal thoracic spine morphology, Micr... ORPHA:46059
Wyburn-Mason Syndrome
Irritability, Proptosis, Epistaxis, Iris hypopigmentation ORPHA:53719
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Multicystic kidney dysplasia, Abnormal palate morphology, Abnormality of the denti... ORPHA:3270
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Proptosis, Flexion contracture OMIM:618346
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hyperlordosis, Spinal rigi... OMIM:613327
Malt Lymphoma
Recurrent respiratory infections, Abnormal nasolacrimal system morphology, B-cell lymphoma, Media... ORPHA:52417
Alstrom Syndrome
Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea... OMIM:203800
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Protruding tongue, Splenomegaly, Narrow mouth, Gingival overgrowth, Dysphagia, Hypo... OMIM:230600
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Thrombocytopenia OMIM:615750
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Inguinal hernia, Corneal opacity, Ovoid vertebral bodies, Ataxia, Hyperlordosis, Gr... OMIM:253010
Dk Phocomelia Syndrome
Encephalocele, Thrombocytopenia OMIM:223340
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Dental crowding, Kyphosis, Hirsutism,... ORPHA:79329
Congenital Hydrocephalus
Hydrocephalus, Iris coloboma, Colpocephaly, Ventriculomegaly ORPHA:2185
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Ataxia, Anorexia, Hyperlordosis, Kyphosis, Splenomegaly, Abnormal su... ORPHA:1328
Pseudo-Torch Syndrome 2
Hepatomegaly, Ventriculomegaly, Petechiae, Cerebral hemorrhage, Lateral ventricle dilatation, Abn... OMIM:617397
Atelis Syndrome 2
Sacral dimple, Epicanthus, Micrognathia, Diastema, Thrombocytopenia, Kyphosis, Thick lower lip ve... OMIM:620185
Machado-Joseph Disease Type 1
Dilated fourth ventricle, Progressive cerebellar ataxia, Progressive gait ataxia, Proptosis, Dysp... ORPHA:276238
Machado-Joseph Disease Type 2
Dilated fourth ventricle, Progressive cerebellar ataxia, Progressive gait ataxia, Proptosis, Dysp... ORPHA:276241
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating IgA level, Peritonitis, Erythema... ORPHA:343
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Dental malocclusion, Torus palatinus OMIM:144750
Melioidosis
Shock, Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung ... ORPHA:31202
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Micrognathia, Squamous cell carcinoma, Microcornea, Premature graying of h... OMIM:268400
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Hypertelorism, Dilated third ventricle, Hydrocephalus, Head-ban... OMIM:619575
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cataract, Vaginal neoplasm, Multiple cutaneous leiomyomas, Pruritus, Esophagea... ORPHA:523
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Cry... ORPHA:110
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Short... OMIM:229850
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Sacral dimple, Multiple joint contractures, Respiratory insufficiency due to muscl... OMIM:618291
Kabuki Syndrome 1
Premature thelarche, Micrognathia, High palate, Micropenis, Recurrent aspiration pneumonia, Abnor... OMIM:147920
Dyrk1A-Related Intellectual Disability Syndrome
Anterior pituitary hypoplasia, Renal cyst, Micropenis, Pelvic kidney, Abnormal repetitive manneri... ORPHA:464306
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Dyspne... OMIM:615084
Meningioma
Back pain, Reduced circulating prolactin concentration, Neoplasm of the anterior pituitary, Neopl... ORPHA:2495
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Proptosis, Holoprosencephaly, Hypertelorism ORPHA:2165
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Thyroid Lymphoma
Lymphoma, Lymphadenopathy, Dysphagia, Hashimoto thyroiditis, Goiter ORPHA:97285
Intellectual Developmental Disorder, Autosomal Dominant 65
Tented upper lip vermilion, Aggressive behavior, Micrognathia, Synophrys, Noncommunicating hydroc... OMIM:619320
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Kyphosis, Cryptorchidism, Flexion contracture, Restrictive ventilatory defect, Sc... OMIM:618484
Congenital Factor Vii Deficiency
Ovarian cyst, Epistaxis ORPHA:327
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Recurrent pneumonia, Flexion contracture, Upper airway obstructi... OMIM:614098
Bresek Syndrome
Renal dysplasia, Hypoplasia of the bladder, Alopecia, Cryptorchidism, Hydrocephalus, Hemivertebra... ORPHA:85284
Kenny-Caffey Syndrome, Type 1
Carious teeth, Recurrent bacterial infections, Congenital hypoparathyroidism, Calvarial osteoscle... OMIM:244460
Blue Rubber Bleb Nevus
Hypermelanotic macule, Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Hem... OMIM:112200
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Pruritus, Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Hypospadias, Bilateral ptosis, Thrombocytopenia, Cr... ORPHA:163979
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Aggressive behavior,... OMIM:619244
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia, Ventriculomegaly OMIM:613730
Icf Syndrome
Communicating hydrocephalus, Recurrent respiratory infections, Epicanthus, Abnormality of neutrop... ORPHA:2268
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Low back pain, Soft tissue neoplasm, Vaginal neoplasm, Pelvic mas... ORPHA:2126
Campomelia, Cumming Type
Hepatomegaly, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Myelodysplasia, Pancre... ORPHA:1318
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia OMIM:616913
Mandibuloacral Dysplasia With Type A Lipodystrophy
Cataract, Flexion contracture, Lack of skin elasticity, Proptosis, Breast aplasia, Dermal atrophy... ORPHA:90153
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia OMIM:613554
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Flexion contr... OMIM:608612
Saul-Wilson Syndrome
Cataract, Hypoplasia of the odontoid process, Irregular vertebral endplates, Platyspondyly, Propt... OMIM:618150
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Asplenia, Absent frontal sinuses, Bronchiectasis, Abnorma... OMIM:244400
Subaortic Stenosis-Short Stature Syndrome
Epicanthus, Acne, Short neck, Micrognathia, Kyphosis, Biliary tract abnormality, Scoliosis, Micro... ORPHA:3191
Renal Hypoplasia, Bilateral
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... ORPHA:97362
Branchiootorenal Syndrome 1
Preauricular pit, Renal dysplasia, Renal malrotation, Lacrimal duct stenosis, Unilateral renal ag... OMIM:113650
Cohen Syndrome
Abnormal eyelid morphology, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low ant... ORPHA:193
Viss Syndrome
Exostosis of the external auditory canal, Inguinal hernia, Hypertelorism, Kyphosis, Asthma, Pneum... OMIM:619472
Cenani-Lenz Syndrome
Cataract, Abnormal dental enamel morphology, Hypertelorism, Abnormal form of the vertebral bodies... ORPHA:3258
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Thrombocyto... ORPHA:324636
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... ORPHA:93315
Developmental And Epileptic Encephalopathy 75
Prolonged neonatal jaundice, Proptosis, Hypertelorism OMIM:618437
Spastic Paraplegia 46, Autosomal Recessive
Cataract, Kyphosis, Scoliosis, Upper limb dysmetria, Limb dysmetria, Spastic gait OMIM:614409
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger, C... ORPHA:2311
Yellow Fever
Shock, Low back pain, Acute pancreatitis, Neutrophilia, Skin rash, Anuria, Renal insufficiency, S... ORPHA:99829
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Xeroderma Pigmentosum
Conjunctival telangiectasia, Ankyloblepharon, Aminoaciduria, Neoplasm, Papilloma, Pterygium, Macu... ORPHA:910
Alg8-Cdg
Ventriculomegaly, Cataract, Cutis laxa, Anemia, Macroglossia, Premature skin wrinkling, Ascites, ... ORPHA:79325
Familial Gestational Hyperthyroidism
Hyperactivity, Proptosis, Agitation, Thyroid hyperplasia, Goiter ORPHA:99819
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles... OMIM:607155
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hypertelorism, Short neck, Hyposegmentation of neutrophil nuclei, Cutis laxa, Proptosis OMIM:614800
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Cleft palate, Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hypospadias, Renal agenesis, Hydrocephalus, Non-midline cleft ... ORPHA:1335
Congenital Myopathy 17
Mandibular prognathia, Telecanthus, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, ... OMIM:618975
Osteopetrosis With Renal Tubular Acidosis
Micrognathia, Leukopenia, High palate, Prominence of the zygomatic bone, Hepatomegaly, Persistenc... ORPHA:2785
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Short neck, Kyphosis, Inability to walk, Flexion contracture, Achilles tendon co... OMIM:301041
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... ORPHA:2399
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Proptosis, Agitation, Thyroid hyperplasia, Goiter ORPHA:424
Cerebrotendinous Xanthomatosis
Abnormality of the vertebral spinous processes, Ataxia, Aggressive behavior, Myelopathy, Tendon x... ORPHA:909
Alg9-Cdg
Omphalocele, Hepatomegaly, Lipodystrophy, Hepatic cysts, Hypertelorism, Short neck, Asthma, Abnor... ORPHA:79328
Candidiasis, Familial, 8
Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Onychomycosis, Blepharitis OMIM:615527
Erdheim-Chester Disease
Ataxia, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Dyspnea, Abnormal pulmonary inte... ORPHA:35687
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Primary hyperparathyroidism, Abnormal liver parenchyma morpholog... ORPHA:1332
Adams-Oliver Syndrome 2
Hypertelorism, Hydrocephalus, Developmental cataract, Lateral ventricle dilatation, Aplasia cutis... OMIM:614219
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Wiedemann-Rautenstrauch Syndrome
Short neck, Micrognathia, Downturned corners of mouth, Hypoplasia of the thymus, Dandy-Walker mal... OMIM:264090
Flotch Syndrome
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Nephrolithiasis, Bleph... ORPHA:2045
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Severe temper tantrums, Aggressive behavior, Thrombocytopenia, Cardiomyopathy, Long philtrum, Ven... OMIM:617710
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal dystrophy, Short neck, Micrognathia, Synophrys, Low anterior hairline, Renal cyst, Dandy-... ORPHA:495875
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Erythema, Pannic... ORPHA:33577
1Q44 Microdeletion Syndrome
Smooth philtrum, Epicanthus, Telecanthus, Exaggerated cupid's bow, Micrognathia, Synophrys, Hydro... ORPHA:238769
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Splenomegaly, Gingivitis, Premature loss of teeth, Anemia OMIM:618107
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Hypertelorism ORPHA:83473
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Micrognathia, Absent eyelashes, Cryptorchidism, Renal cyst, Horseshoe k... ORPHA:166035
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Acne, Kyphosis, Premature loss of teeth, Gingiv... ORPHA:137834
Srd5A3-Cdg
Cataract, Decreased response to growth hormone stimulation test, Microcytic anemia, Abnormal hair... ORPHA:324737
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract, Hypertelorism, Kyphosis, Scoliosis, Dysphagia ORPHA:79107
Mosaic Trisomy 1
Microretrognathia, Hepatic agenesis, Thoracic scoliosis, Hypoplastic thumbnail, Thick lower lip v... ORPHA:1692
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Short neck, Hypertelorism, Kyphosis, Cryptorchidism, Ve... ORPHA:251014
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias ORPHA:141333
Thrombocytopenia, Paris-Trousseau Type
Micrognathia, Thrombocytopenia, Ptosis OMIM:188025
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Renal hypoplasia, Spinal dysraphism, Capillary malformation, Scoliosis, Lipoma, Nep... OMIM:612918
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Ptosis, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymp... ORPHA:100085
Lateral Meningocele Syndrome
Dental crowding, Short neck, Micrognathia, Coarse hair, High palate, Vertebral fusion, Cryptorchi... OMIM:130720
Costello Syndrome
Redundant neck skin, Short neck, Micrognathia, Fragile nails, High palate, Sparse hair, Lymphangi... OMIM:218040
Tick-Borne Encephalitis
Back pain, Anorexia, CSF pleocytosis, Leukocytosis, Unusual CNS infection, Depression, Leukopenia... ORPHA:297
Meckel Syndrome
Ureteral duplication, Sclerocornea, Micrognathia, Asplenia, Microcornea, Urethral atresia, Dandy-... ORPHA:564
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Proptosis, Myeloproliferative disorder, Iritis, Multiple cafe-au-... ORPHA:158000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens, Hypospa... ORPHA:93111
Gracile Bone Dysplasia
Asplenia, Hydrocephalus, Micropenis, Aniridia, Hypoplastic spleen, Ascites, Ankyloglossia OMIM:602361
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Acne, Short neck, Micrognathia, Kyphosis, Abnormality of the tongue, Abno... ORPHA:3098
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy, Pan... OMIM:619183
Multiple Sulfatase Deficiency
Hepatomegaly, Corneal opacity, Ataxia, Splenomegaly, Hydrocephalus, Hypoplastic vertebral bodies,... OMIM:272200
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Ataxia, Hypertelorism, Kyphosis, Hypoplasia of the iris, Astigmatism, Scoliosis, Me... ORPHA:2479
Sturge-Weber Syndrome
Conjunctival telangiectasia, Corneal dystrophy, Pulmonary embolism, Visceral angiomatosis, Hydroc... ORPHA:3205
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Inguinal hernia, Apnea, Camptodactyly of finger, Hypertelorism, Cryp... ORPHA:2462
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis OMIM:610743
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Opportunisti... ORPHA:2035
Postencephalitic Parkinsonism
Camptocormia, Akinesia, Cough, Kyphosis, Abnormal respiratory system physiology, Depression, CSF ... ORPHA:97349
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Nevus flammeus, Cardiomegaly, Crypto... OMIM:130650
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Short neck, Cryptorchidism, Cholestasis, Anemia, Long philtrum, Ascites, Thrombocyt... OMIM:608104
Developmental And Epileptic Encephalopathy 48
Proptosis OMIM:617276
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Abnormality of the kidney, Cerebral hemorrhage, Diffuse alveolar hem... ORPHA:464321
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia, Downslanted palpebral fissures, Increased size ... OMIM:300048
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Kyphosis, Unsteady gait, Scoliosis, Loss of ambulation OMIM:618124
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hypertrophic cardi... OMIM:615415
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Aortic val... OMIM:615382
Joubert Syndrome 35
Telecanthus, Recurrent urinary tract infections, Multicystic kidney dysplasia, Highly arched eyeb... OMIM:618161
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia OMIM:211890
Machado-Joseph Disease Type 3
Dilated fourth ventricle, Progressive cerebellar ataxia, Progressive gait ataxia, Proptosis, Dysp... ORPHA:276244
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Downslante... ORPHA:3316
Ritscher-Schinzel Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Hydrocephalus, ... OMIM:220210
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, C... OMIM:267010
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Verheij Syndrome
Vertebral fusion, Thin upper lip vermilion, Renal agenesis, Short neck, Hemivertebrae, Renal hypo... OMIM:615583
Trisomy 8P
Short neck, Fetal pyelectasis, Nephrocalcinosis, Aplasia/Hypoplasia of the gallbladder, Micropeni... ORPHA:264450
1Q21.1 Microdeletion Syndrome
Inguinal hernia, Cataract, Cryptorchidism, Hydrocephalus, Depression, Deeply set eye, Attention d... ORPHA:250989
Ichthyosis, Congenital, Autosomal Recessive 6
Ectropion, Scaling skin, Dry skin, Erythroderma OMIM:612281
Holocarboxylase Synthetase Deficiency
Alopecia, Skin rash, Irritability, Organic aciduria, Elevated urinary 3-methylcrotonylglycine lev... OMIM:253270
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Epicanthus, Hypopigmentation of hair, Splenomegaly, Reduced renal corticomedullary ... OMIM:618541
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... OMIM:301040
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast... ORPHA:160
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Gastrointestinal inflammation, Squamous cell carcinoma, Iron deficiency anemi... ORPHA:79408
Odontochondrodysplasia 1
Delayed eruption of teeth, Recurrent respiratory infections, Biconvex vertebral bodies, Coronal c... OMIM:184260
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Cataract, Diffuse leiomyomatos... ORPHA:1018
Chikungunya
Macule, Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Pruritus, Cervical lymph... ORPHA:324625
Full Schwannomatosis
Cataract, Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Periph... ORPHA:93921
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Monosomy 18Q
Mandibular prognathia, Astrocytoma, Bilateral cryptorchidism, Low anterior hairline, Downturned c... ORPHA:1600
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... OMIM:139090
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestas... ORPHA:79303
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Cataract, Small scrotum, Hypertelorism, Hydrocephalus, Hypotelorism, Pleural ef... OMIM:617822
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Hypertelorism, Hyperlordosis, Kyphosis, Gait ataxia, Proptosis, Scol... OMIM:617011
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... ORPHA:555905
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Anemia, Leukopen... OMIM:613845
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Short neck, Cleft upper lip, Cleft palate, Polycystic kid... OMIM:613885
Fountain Syndrome
Craniofacial hyperostosis, Epicanthus, Spina bifida, Kyphosis, Synophrys, Subcutaneous nodule, Er... ORPHA:3219
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Thin upper lip vermilion, Highly arched eyebrow, Aggressive behavior, Downturned corners of mouth... OMIM:619121
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Anemia, Aminoaciduria, High palate, Bone marrow hypocellularity, Small nail, Neutropen... OMIM:614520
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Hyperthyroidism, Nonautoimmune
Goiter, Hyperactivity, Proptosis, Thyroid hyperplasia OMIM:609152
Jackson-Weiss Syndrome
Proptosis, Hypertelorism ORPHA:1540
Capillary Malformation-Arteriovenous Malformation
Macule, Hypopigmented macule, Neurogenic bladder, Epistaxis, Facial capillary hemangioma, High-ou... ORPHA:137667
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Micrognathia, Renal cyst, High palate, Vesicoureteral reflux, Lumbar hyperlordosis, Hypospadias, ... OMIM:616975
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hematuria, Hypertension, Increased me... OMIM:617021
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Kyphosis, Congestive heart failure, Macrovesicular ... OMIM:618234
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia OMIM:245200
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Anuria, Hypertensive crisis, Pneumonia, Nephrotic range proteinu... ORPHA:544482
Myopathy, Centronuclear, 2
Waddling gait, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis, Flexion... OMIM:255200
Progeroid Short Stature With Pigmented Nevi
Irregular dentition, Numerous nevi, Cataract, Hypospadias, Allergic rhinitis, Thoracic scoliosis,... OMIM:176690
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Corneal opacity, Ventriculomegaly, Proteinuria, Thromb... ORPHA:355
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Pallor, Poik... OMIM:300908
Anaplastic Thyroid Carcinoma
Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung, Malignant neoplasm of the... ORPHA:142
Neuropathy, Hereditary Sensory And Autonomic, Type V
Low back pain, Osteomyelitis, Urinary incontinence, Osteoarthritis, Acral ulceration, Septic arth... OMIM:608654
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Narrow palpebral fissure, Broad eyebrow OMIM:618302
Acrocraniofacial Dysostosis
Preauricular pit, Hypertelorism, Abnormal form of the vertebral bodies, Proptosis, Spina bifida o... ORPHA:949
8P11.2 Deletion Syndrome
Preauricular pit, Hemolytic anemia, Epicanthus, Sacral dimple, Hypoplasia of penis, Hypogonadotro... ORPHA:251066
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Prominent corneal nerve fibers, Pheochromocytoma, Pallor, Elevated uri... ORPHA:653
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Symblepharon, Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Enamel hypo... OMIM:245660
Kagami-Ogata Syndrome
Hepatomegaly, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, Pulmonic ste... OMIM:608149
Cardiofacioneurodevelopmental Syndrome
Micrognathia, Asplenia, Cryptorchidism, Kyphosis, Cleft lip, Cleft palate, Upslanted palpebral fi... OMIM:619123
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation, Pro... OMIM:612301
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Lumbar hyperlordosis, Kyphoscoliosis, Hypertelorism, Kyphosis, Gait ... ORPHA:457359
Pelvis-Shoulder Dysplasia
Waddling gait, Lumbar hyperlordosis, Hydranencephaly, Camptodactyly of finger, Spina bifida, Hydr... ORPHA:2839
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis, Hirsutism OMIM:612526
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Congenital Muscular Dystrophy, Ullrich Type
Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Elbow flexion contracture, Knee flexi... ORPHA:75840
Neuroleptic Malignant Syndrome
Tachycardia, Hypertensive crisis, Proteinuria, Urinary incontinence, Pulmonary embolism, Leukocyt... ORPHA:94093
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Micrognathia, Subcutaneous nodule, Hamartomatous polyposis, Intra... ORPHA:109
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... ORPHA:84081
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Gait disturbance, Ataxia, Scoliosis ORPHA:99014
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Short neck, Cryptorchidism, Proptosis, Ventriculomegaly OMIM:615803
Joubert Syndrome
Encephalocele, Ataxia, Apnea, Episodic tachypnea, Abnormal pattern of respiration, Hydrocephalus,... ORPHA:475
Centrifugal Lipodystrophy
Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin ORPHA:90156
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Cataract, Multicystic kidney dysplasia, Cryptorchidism, Hydrocepha... ORPHA:3301
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... OMIM:211530
Carpenter Syndrome 2
Short neck, Bilateral cryptorchidism, High, narrow palate, Ectropion of lower eyelids, Low anteri... OMIM:614976
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ... ORPHA:90037
Marinesco-Sjogren Syndrome
Ataxia, Hypergonadotropic hypogonadism, Kyphosis, Flexion contracture, Limb ataxia, Gait ataxia, ... OMIM:248800
Edinburgh Malformation Syndrome
Micrognathia, Brushfield spots, Synophrys, Hydrocephalus, Low posterior hairline, Downturned corn... ORPHA:1895
Degcags Syndrome
Oral-pharyngeal dysphagia, Hypotelorism, Leukopenia, Iron deficiency anemia, Pallor, Hepatomegaly... OMIM:619488
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Telecanthus, Hyperlordosis, Glutaric aciduria, Congestive heart... ORPHA:26791
Muscle-Eye-Brain Disease
Cataract, Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly ORPHA:588
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Splenomegaly, Fused cervi... OMIM:612852
Complement Factor I Deficiency
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... OMIM:610984
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Micrognathia, Cryptorchidism, Deep philtrum, Ambiguous genitalia, Th... ORPHA:1237
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hypergonadotropic hypogonadism, Aplastic anemia, Renal agenesis, Short neck, Hy... OMIM:300514
Stt3B-Cdg
Cryptorchidism, Micropenis, Small scrotum, Thrombocytopenia ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Micropenis, Small scrotum, Thrombocytopenia OMIM:615597
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Bilateral ptosis, Cryptorchidism, ... ORPHA:404440
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormality of the pulmonary artery, Abnormal form of the vertebral bodies ORPHA:1354
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Hematuria, Anemia, Pulmonary venous hypertension, Thrombocytopenia ORPHA:90060
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... OMIM:156530
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Hypoplastic toenails, Splenomegaly, Renal hypoplasi... OMIM:616589
Axenfeld-Rieger Syndrome, Type 3
Hypertelorism, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior cham... OMIM:602482
Opitz Gbbb Syndrome
Preauricular pit, Bifid scrotum, Enlarged ovaries, Ventriculomegaly, Hypospadias, Inguinal hernia... ORPHA:2745
Pfeiffer Syndrome Type 2
Respiratory distress, Hypertelorism, Aqueductal stenosis, Hydrocephalus, Proptosis, Tracheomalacia ORPHA:93259
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Tangier Disease
Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Thrombocytopen... ORPHA:31150
Dural Sinus Malformation
Ataxia, Myelopathy, Hydrocephalus, Proptosis, Chemosis ORPHA:97339
Refsum Disease
Renal insufficiency, Cataract, Heart block, Splenomegaly, Cardiomyopathy, Nail dysplasia, Dry ski... ORPHA:773
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Hypertelorism, Cryptorchidism, Ves... OMIM:201750
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Flexion contracture, Dysphagia, Stridor, Proptosis, Attention deficit hyperactivity disorder, Sha... OMIM:620029
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi... ORPHA:97289
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Sclerocornea, Cryptorchidism, Hydrocephalus, Hemivertebrae, Hol... ORPHA:77298
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Increased CSF lactate, Renal tub... OMIM:614922
Genitopalatocardiac Syndrome
Hypospadias, Micrognathia, Cleft upper lip, Cleft palate, Renal cyst, Gonadal dysgenesis, male OMIM:231060
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Cataract, Highly arched eyebrow, Retinal telangiectasia, Micrognathia, Hyp... OMIM:620157
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Infant Botulism
Ptosis, Cardiac arrest, Anorexia, Hypertension, Keratoconjunctivitis sicca, Hypotension, Dysphagi... ORPHA:178478
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Congenital hepatic fibrosis, Meningocele, Renal cyst, Glossoptosis,... ORPHA:2031
Wilson Disease
Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hemolytic anemia, Hepatomeg... OMIM:277900
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Thin upper lip vermilion, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leu... OMIM:620233
Mucolipidosis Type Ii
Aortic regurgitation, Recurrent respiratory infections, Epicanthus, Dry hair, Abnormal atrioventr... ORPHA:576
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Hypoplasia of penis, Slow-growing hair, Short neck, Abnormal hair morpholo... ORPHA:3082
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Hypoparathyroidism, Hip contracture, Hypertelorism, Knee flexion contracture, Prop... OMIM:156400
Mend Syndrome
Hyperactivity, Sacral dimple, Cataract, Aggressive behavior, Hypertelorism, Kyphosis, Cryptorchid... ORPHA:401973
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Micrognathia, Cleft palate, Horseshoe kidney, Fused cervical vertebrae... ORPHA:3320
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Recurrent viral infections, ... ORPHA:420741
Opitz-Kaveggia Syndrome
Skin tags, Sacral dimple, Lumbar hyperlordosis, Hypospadias, Multiple joint contractures, Facial ... OMIM:305450
Fibrochondrogenesis
Omphalocele, Camptodactyly of finger, Hypertelorism, Short neck, Respiratory insufficiency, Abnor... ORPHA:2021
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Lipodystrophy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Re... ORPHA:98863
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Dental crowding, Orofacial cleft, Urethral atresia, Malformed... ORPHA:2052
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Hypospadias, Camptodactyly of finger, Ankle flexion contracture, Cry... ORPHA:468631
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Renal cyst, Uterine leiom... ORPHA:480536
Ichthyosis, Congenital, Autosomal Recessive 4B
Proptosis OMIM:242500
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Joubert Syndrome 7
Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Scoliosis, Ptosis OMIM:611560
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Epicanthus, Pancreatic fibrosis, Short neck, Upslanted palpebral fissure, Hepatic f... OMIM:200995
Peroxisome Biogenesis Disorder 12A (Zellweger)
Epicanthus, Prominence of the premaxilla, Hydrocephalus, Sepsis, Renal tubular dysfunction, Abnor... OMIM:614886
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Hanac Syndrome
Retinal vascular tortuosity, Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Micrognathia, Hydrocephalus, Renal hyp... OMIM:614083
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Gait disturbance, Depression ORPHA:275543
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Hemive... OMIM:146510
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Scoliosis, Pulmonic stenosis, Uter... ORPHA:284984
Glucagonoma
Anorexia, Hepatomegaly, Necrolytic migratory erythema, Acanthocytosis, Intermittent jaundice, Dep... ORPHA:97280
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Short neck, Epispadias, Hemivertebrae, Naevus flammeus of the eyelid, Abnorm... ORPHA:3107
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Epicanthus, Dental crowding, Urinary incontinence, Aggressive behavior, Micrognathia, Kyphosis, S... ORPHA:476126
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Trisomy 1Q
Omphalocele, Multicystic kidney dysplasia, Small scrotum, Camptodactyly of finger, Congenital dia... ORPHA:261344
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Baller-Gerold Syndrome
Hypertelorism, Lymphoma, Hypotelorism, Proptosis, Scoliosis, Osteosarcoma ORPHA:1225
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Thrombocytopenia, Self-injurious behavior, Sacral hypertrichosis, Scoliosi... ORPHA:457351
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Dysphagia, Lymphadenopathy ORPHA:50251
Abetalipoproteinemia
Reticulocytosis, Hepatomegaly, Kyphoscoliosis, Acanthocytosis, Cardiomegaly, Congestive heart fai... ORPHA:14
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Cataract OMIM:615191
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Corneal opacity, Hypospadias, Ankle flexion contracture, Kyphosis, Abnormal repetitive mannerisms... ORPHA:464311
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Deeply set eye, Hypogonadism, Spina bif... ORPHA:2983
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Corneal opacity, ... ORPHA:584
Fibrochondrogenesis 1
Omphalocele, Short neck, Platyspondyly, Proptosis, Camptodactyly, Megalocornea, Joint contracture... OMIM:228520
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Seborrheic dermatitis, Erythema, Arthritis, High palate, Eczematoid dermatitis, P... OMIM:259100
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... OMIM:248370
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Anuria, Myocardial infarction, Thrombocytopenia, Leukocytosis, Peritonitis, Schi... ORPHA:90038
Epidermolytic Hyperkeratosis 2
Erythroderma OMIM:620150
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal, Squamous cell carcinoma of the skin ORPHA:85112
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Oliver Syndrome
Mandibular prognathia, Supernumerary nipple, Dental malocclusion, Hyperconvex fingernails, High p... ORPHA:2920
Trisomy 9P
Sacral dimple, Short neck, Hypertelorism, Kyphosis, Abnormal pupil morphology, Deeply set eye, Sc... ORPHA:236
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Cardiomyopathy, Nephropathy, Abnormal renal tu... ORPHA:1909
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Microphthalmia, Syndromic 2
Microcornea, Oligodontia, Fused teeth, Laterally curved eyebrow, Bifid uvula, Dandy-Walker malfor... OMIM:300166
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Corneal opacity, Splenomegaly, Wide mouth, Rhinitis, Everted ... ORPHA:93474
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Scoliosis, Thrombocytopenia OMIM:616577
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Sparse hair, Dry skin, ... OMIM:618535
Coffin-Lowry Syndrome
Redundant skin, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Hyperconvex fin... ORPHA:192
Ruvalcaba Syndrome
Dental crowding, Cryptorchidism, Kyphosis, Hypopigmented skin patches, Abnormal localization of k... ORPHA:3121
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Sacral dimple, Encephalocele, Hypospadias, Hyperteloris... ORPHA:2211
Hemangioblastoma
Hydrocephalus, Spinal hemangioblastoma, Hemangioblastoma, Cerebellar hemangioblastoma, Retinal ca... ORPHA:252054
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
20Q13.33 Microdeletion Syndrome
Sacral dimple, Hypospadias, Decreased scrotal rugation, Hypertelorism, Proptosis ORPHA:261311
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Epicanthus, Short neck, Splenomegaly, Jaundice, Low posterior ha... OMIM:611881
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Ectopic kidney, Hypoplastic... ORPHA:99413
Mosaic Monosomy X
Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Ectopic kidney, Hypoplastic... ORPHA:99228
Monosomy X
Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Ectopic kidney, Hypoplastic... ORPHA:99226
Turner Syndrome
Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Ectopic kidney, Hypoplastic... ORPHA:881
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Kyphosis, Congest... OMIM:615512
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, Inspirator... OMIM:207950
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Flexion contracture, Clitoral hypoplasia, Compulsive ... ORPHA:398069
Sacral Defect With Anterior Meningocele
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Myelomeningocele, Hydrocephalus, Meni... OMIM:600145
20Q11.2 Microduplication Syndrome
Bifid scrotum, Sacral dimple, Inguinal hernia, Cryptorchidism, Proptosis, Micropenis ORPHA:363659
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Reduced forc... OMIM:613686
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Inguinal hernia, Kyphoscoliosis, Hypertelorism, Hiatus herni... OMIM:615582
Zellweger Syndrome
Hepatomegaly, Epicanthus, Cataract, Corneal opacity, Hypospadias, Multicystic kidney dysplasia, M... ORPHA:912
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ventriculomegaly, Cataract, Ureteral duplication, Renal insufficie... OMIM:608836
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Proptosis, Abnormal morphology of female internal genitalia ORPHA:1790
Tyshchenko Syndrome
Cryptorchidism, Proptosis, Supernumerary nipple OMIM:615102
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Sclerotic vertebral body, Ataxia, Kyphosis, Hydrocephalus, Platyspondyly, Inapp... OMIM:618476
Familial Infantile Myoclonic Epilepsy
Proptosis, Ataxia, Gait disturbance ORPHA:352582
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Ventriculomegaly ORPHA:319199
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Lumbar hyperlordosis, Cataract, Hydrocephalus,... ORPHA:370959
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... OMIM:251880
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtrum, Hypercalciuria, Rena... OMIM:615398
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Albinism, Splenomegaly, Ocular albinism, Neutrope... OMIM:617050
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Pituitary adenoma, Facial erythema, Ecchymosis, Thin skin, Biconcave vertebral bodies, ... OMIM:219090
Joubert Syndrome 1
Enlarged fossa interpeduncularis, Epicanthus, Hyperactivity, Highly arched eyebrow, Aggressive be... OMIM:213300
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Cataract, Hypogonadism OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... OMIM:610205
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, High, narrow... ORPHA:228308
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Micrognathia, Cr... OMIM:241410
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Lipodystrophy, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory in... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Lipodystrophy, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory in... ORPHA:98853
Stromme Syndrome
Accessory spleen, Cataract, Sclerocornea, Micrognathia, Hydrocephalus, Bilateral renal hypoplasia... OMIM:243605
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Cryptorchidism, Widow's peak, Deep philtrum, Dental malocclusion, Trismus, Narr... OMIM:227330
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Epicanthus, Telecanthus, Hydrocephalus, Recurrent infections, Downturne... OMIM:618590
Combined Oxidative Phosphorylation Deficiency 55
Epicanthus, Ventriculomegaly, Stage 3 chronic kidney disease, Bilateral ptosis, Anemia, Enuresis,... OMIM:619743
Epidermal Nevus Syndrome
Thoracolumbar scoliosis, Rhabdomyosarcoma, Spinal cord tumor, Spinal canal stenosis, Astigmatism,... ORPHA:35125
Eosinophilic Gastroenteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Atopic dermatitis, Hematochezia, Dysphagia, Ascite... ORPHA:2070
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Fontaine Progeroid Syndrome
Small scrotum, Redundant skin, Micropenis, Recurrent aspiration pneumonia, Hypertelorism, Cryptor... OMIM:612289
Fish-Eye Disease
Hepatomegaly, Corneal opacity, Angina pectoris, Splenomegaly, Lymphadenopathy ORPHA:79292
Pagod Syndrome
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Sudden cardi... ORPHA:991
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Membranoproliferative glomerulonephritis, Microcytic anemia, Micrognathia, Thromboc... OMIM:619525
Marden-Walker Syndrome
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Bifid uvula, Abnormal penis morp... ORPHA:2461
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Atopic Keratoconjunctivitis
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... ORPHA:163934
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Pulmonic stenosis,... ORPHA:2414
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microretrognathia, Natal tooth, Hamartoma of tongue, Sparse eyebrow, Cryptorchidis... OMIM:616300
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Splenomegaly, Renal cyst, Dysphagia, Hyperechogenic kidne... OMIM:615636
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Increased RBC distribution width, Petechiae, Epistaxis, Macrothrombo... OMIM:187900
Alg1-Cdg
Kyphosis, Sepsis, Recurrent infections, Respiratory failure, Scoliosis ORPHA:79327
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Lipodystrophy, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendo... ORPHA:98855
Spondyloepiphyseal Dysplasia Congenita
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... ORPHA:94068
Joubert Syndrome With Renal Defect
Encephalocele, Ataxia, Apnea, Abnormal pattern of respiration, Hydrocephalus, Gait disturbance, S... ORPHA:220497
Microphthalmia, Lenz Type
Cataract, Hypospadias, Camptodactyly of finger, Hyperlordosis, Kyphosis, Cryptorchidism, Microcor... ORPHA:568
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Diaphanospondylodysostosis
Short neck, Myelomeningocele, Cleft palate, Multiple renal cysts, Absent or minimally ossified ve... ORPHA:66637
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Premature osteoarthritis, Atrophic scars, Scoliosis, Malar flattening OMIM:130060
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly,... OMIM:243910
Full Nf2-Related Schwannomatosis
Astrocytoma, Glioma, Bilateral vestibular schwannoma, Retinal hamartoma, Myelopathy, Posterior su... ORPHA:637
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spina bifida occulta, Proptosis ORPHA:1185
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal renal tubule morphology, Cataract, Abnormality of neutrophils, Hydrocephalus, White hair... ORPHA:2720
Tetrasomy 15Q26
Kyphoscoliosis, Hypertelorism, Hydrocephalus, Camptodactyly, Dandy-Walker malformation OMIM:614846
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... OMIM:617394
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic gait, Acral ulceration OMIM:256840
Marden-Walker Syndrome
Inguinal hernia, Hypospadias, Hypertelorism, Short neck, Kyphosis, Cryptorchidism, Congenital con... OMIM:248700
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Inguinal hernia, Hypertelorism, Hydrocephalus, Aplasia of the vagina, Aplasia of t... ORPHA:457284
Sclerosteosis 1
Mandibular prognathia, Dental malocclusion, Facial palsy secondary to cranial hyperostosis, Nail ... OMIM:269500
Coach Syndrome 2
Congenital hepatic fibrosis, Hydrocephalus, Hypertension, Portal fibrosis, Hepatic fibrosis, Hype... OMIM:619111
Meckel Syndrome, Type 3
Hepatomegaly, Occipital encephalocele, Multicystic kidney dysplasia, Malformation of the hepatic ... OMIM:607361
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Sparse scalp hair, Recurrent respiratory infections, Conical tooth, Splenomegaly, A... OMIM:612132
Pseudoaminopterin Syndrome
Sparse scalp hair, Epicanthus, Highly arched eyebrow, Micrognathia, Asplenia, Cryptorchidism, Hyd... ORPHA:221120
Ichthyosis, Congenital, Autosomal Recessive 9
Eclabion, Ectropion, Erythroderma OMIM:615023
Joubert Syndrome With Ocular Defect
Encephalocele, Ataxia, Apnea, Abnormal pattern of respiration, Hydrocephalus, Gait disturbance, S... ORPHA:220493
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Mandibular prognathia, Hooded eyelid, Anterior pituitary hypoplasia,... OMIM:619841
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Hereditary Orotic Aciduria
Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Abnormality of the uret... ORPHA:30
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respi... OMIM:618278
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal repetitive mannerisms, Op... ORPHA:580
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Proteinuria, Splenomegaly, Anemia, ... ORPHA:77261
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Depression, Neoplasm of t... ORPHA:77293
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Pruritus, Splenomegaly,... OMIM:211600
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence of... OMIM:120330
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Renal cyst, Bile duct proli... OMIM:611134
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the temporomandibular joint, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, S... ORPHA:85408
Camurati-Engelmann Disease
Waddling gait, Reduced subcutaneous adipose tissue, Proptosis, Bone marrow hypocellularity, Scoli... OMIM:131300
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... OMIM:610829
Vacterl With Hydrocephalus
Absence of the sacrum, Inguinal hernia, Femoral hernia, Spina bifida, Aqueductal stenosis, Crypto... ORPHA:3412
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Tented upper lip vermilion, Micrognathia, High, narrow palate, Renal cyst, Downturned corners of ... ORPHA:369837
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Abnormality o... OMIM:276950
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Recurrent respiratory infections, Skin rash, Perianal abscess, Oral ulcer, Art... OMIM:301074
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, Upslanted p... ORPHA:2437
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Epicanthus, Transient neutropenia, Renal cyst, Macroglossia, Thick vermilion b... OMIM:617107
Noonan Syndrome
Hepatomegaly, Hypogonadotropic hypogonadism, Hypertelorism, Abnormality of the spleen, Cryptorchi... ORPHA:648
Aase-Smith Syndrome I
Hydrocephalus, Cleft palate, Congenital neuroblastoma, Open mouth, Dandy-Walker malformation, Ptosis OMIM:147800
Rhombencephalosynapsis
Ataxia, Hypertelorism, Hydrocephalus, Abnormality of the uterus, Ventriculomegaly ORPHA:59315
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Lymphangiectasis OMIM:602579
Typical Nemaline Myopathy
Waddling gait, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Respira... ORPHA:171436
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Multicystic kidney dysplasia, Hypertension ORPHA:2111
Meckel Syndrome, Type 6
Absent gallbladder, Abnormal internal genitalia, Occipital encephalocele, Cleft upper lip, Hydroc... OMIM:612284
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Unsteady gait, Scoliosis OMIM:617542
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis, Acne, Cryptorchidism, High, narrow palate, Glandular hypospadias, Uterine l... ORPHA:1439
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Prominent median palatal r... OMIM:300602
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Short Stature With Microcephaly And Distinctive Facies
Spotty hypopigmentation, Anisopoikilocytosis, Recurrent infections, Proptosis, Anemia OMIM:615789
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Spontaneous hemolytic crises, Cataract, Ataxia, Short neck, Jaundice... ORPHA:168577
Cousin Syndrome
Short neck, Hypertelorism, Hydrocephalus, Ambiguous genitalia, female, Prominent protruding coccy... OMIM:260660
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Displac... ORPHA:1556
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Mend Syndrome
Hyperactivity, Sacral dimple, Cataract, Redundant neck skin, Kyphosis, Cryptorchidism, Hydrocepha... OMIM:300960
Pelizaeus-Merzbacher Disease
Recurrent respiratory infections, Ataxia, Kyphosis, Respiratory insufficiency, Choreoathetosis, G... ORPHA:702
Restrictive Dermopathy 2
Respiratory distress, Proptosis OMIM:619793
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Proptosis, Hypertelorism ORPHA:93258
Urban-Rogers-Meyer Syndrome
Epicanthus, Hypoplasia of penis, Abnormality of the philtrum, Short neck, Micrognathia, Cryptorch... ORPHA:3409
Alström Syndrome
Respiratory distress, Thoracic scoliosis, Decreased response to growth hormone stimulation test, ... ORPHA:64
Roberts Syndrome
Clitoral hypertrophy, Cataract, Progressive flexion contractures, Hypertelorism, Short neck, Cryp... ORPHA:3103
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Anorexia, Right ven... ORPHA:100075
Melnick-Needles Syndrome
Omphalocele, Recurrent respiratory infections, Anterior concavity of thoracic vertebrae, Kyphosco... OMIM:309350
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Kyphoscoliosis, Hypertelorism, Kyphosis, Inability to walk, Unsteady gait, Cryptorch... ORPHA:3063
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Severe cytomegalovirus infection, Increase... OMIM:300291
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Robinow Syndrome, Autosomal Recessive 1
Vertebral fusion, Inguinal hernia, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Hyper... OMIM:268310
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Epicanthus, Vaginal hernia, Macrodontia, Abnormal dental... ORPHA:2916
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Inflammation of the large intestine, Ascites, Lymphadenopathy ORPHA:26790
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Micrognathia, Kyphosis, Hemivertebrae, ... ORPHA:2062
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Meckel Syndrome, Type 9
Ambiguous genitalia, Occipital encephalocele, Multicystic kidney dysplasia OMIM:614209
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Epicanthus, Ventriculomegaly, Microretrognathia, Microvesicular h... OMIM:619418
Jackson-Weiss Syndrome
Proptosis OMIM:123150
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus, Osteosarcoma OMIM:260500
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Epicanthus, Redundant neck skin, Hypospadias, Occipital encephal... ORPHA:397715
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Opacification of the corneal stroma OMIM:252605
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Osteochondroma, Generalized lymphadenopathy, B-cell lymphoma, Burkitt lymphoma, Vertebral compres... OMIM:620232
Ivic Syndrome
Leukocytosis, Rectovaginal fistula, Scoliosis, Arrhythmia, Thrombocytopenia ORPHA:2307
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Angina pectoris, Splenomegaly, Vacuolated lym... ORPHA:565612
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
X-Linked Intellectual Disability, Cabezas Type
Epicanthus, Hypoplasia of penis, Hyperactivity, Abnormal hair pattern, Short neck, Aggressive beh... ORPHA:85293
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Enlarged ovaries, Precocious puberty, Long penis, Recurrent ... ORPHA:769
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Hemat... ORPHA:853
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Skin rash, Gastrointestinal stroma tumor, Esophageal neoplasm, Abnor... ORPHA:44890
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Proptosis, Upper airway obstruction ORPHA:440354
Joubert Syndrome With Oculorenal Defect
Encephalocele, Apnea, Ataxia, Hydrocephalus, Tachypnea, Scoliosis, Iris coloboma ORPHA:2318
Joubert Syndrome 20
Self-mutilation, Renal cyst, Aggressive behavior OMIM:614970
Loeys-Dietz Syndrome 3
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Eosinophilic infiltration of the e... OMIM:613795
Pseudotrisomy 13 Syndrome
Encephalocele, Omphalocele, Cryptorchidism, Hydrocephalus, Hemivertebrae, Micropenis, Hypoteloris... OMIM:264480
Meester-Loeys Syndrome
Ventriculomegaly, Hypertelorism, Cervical spine instability, Proptosis, Camptodactyly, Pulmonary ... OMIM:300989
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Cholangitis, Eosinophilia, Increased circulating IgG4 level, Retroperitoneal... ORPHA:449432
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Short neck, Hydrocephalus, Hypotelorism, Colpocephaly, Congenital contracture, Ventriculomegaly OMIM:620156
Dystonia 1, Torsion, Autosomal Dominant
Multiple joint contractures, Hyperlordosis, Kyphosis, Inability to walk, Depression, Scoliosis, D... OMIM:128100
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation, Apnea, Kyphosis, Stridor, Scoliosis, Dysphagia, Arthrogryposis multiplex congenita OMIM:617143
Roberts-Sc Phocomelia Syndrome
Short neck, Knee flexion contracture, Shallow orbits, Midface capillary hemangioma, Wrist flexion... OMIM:268300
Rett Syndrome
Apnea, Intermittent hyperventilation, Kyphosis, Gait apraxia, Truncal ataxia, Gait ataxia, Scolio... OMIM:312750
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcificati... ORPHA:157
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Micrognathia, Aqueductal stenosis, Splenomegaly, Upslanted palpebr... ORPHA:3035
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Spinal canal stenosis, Hypoxemia, Restrictive vent... ORPHA:15
Chromosome 17P13.1 Deletion Syndrome
Epicanthus, Telecanthus, Sacral dimple, Highly arched eyebrow, Short neck, Spina bifida, High, na... OMIM:613776
Weaver Syndrome
Inguinal hernia, Hypertelorism, Kyphosis, Cryptorchidism, Cutis laxa, Melanocytic nevus, Hydrocel... OMIM:277590
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Limb joint contracture, Increased in... ORPHA:93314
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Aplasia/Hypoplasia of the skin, Hypospadias, Epispadias, Abnormal conj... ORPHA:3339
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Smooth philtrum, Glomerulopathy, Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-... ORPHA:79282
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Pruritus, Intrahepatic cholestasis, Jaundice, Splenomegaly, Portal inflammation, Po... OMIM:602347
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Desbuquois Dysplasia 2
Neonatal respiratory distress, Lumbar hyperlordosis, Short neck, Platyspondyly, Proptosis OMIM:615777
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Hypertelorism, Respiratory insufficiency, Dysphagia OMIM:619909
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hypertelorism, Hydrocephalus, Choroid plexus cyst, Vertebral wedging, Platyspondyly, Polycystic k... OMIM:617866
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Micrognathia, Aqueductal stenosis, Synophrys, Fetal pyelectasis, Low anter... OMIM:619512
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Ectopia lentis, Short neck, Lens luxation, Hydrocephalus, Shallow orbits, Joint co... OMIM:224400
Wieacker-Wolff Syndrome
U-Shaped upper lip vermilion, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Upslanted palpeb... OMIM:314580
Mucopolysaccharidosis Type 4
Corneal opacity, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish ... ORPHA:582
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Hypoplastic vertebr... ORPHA:3455
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Gait disturbance OMIM:614898
Pfeiffer Syndrome Type 3
Respiratory distress, Hypertelorism, Aqueductal stenosis, Proptosis, Tracheomalacia ORPHA:93260
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Intrahepat... OMIM:619849
Mpdu1-Cdg
Eczema, Decreased response to growth hormone stimulation test, Prominent frontal sinuses, Renal c... ORPHA:79323
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Fetal megac... ORPHA:73246
Joubert Syndrome 2
Central apnea, Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Episodic tachypnea, Hyper... OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Respiratory insufficiency due to muscle weakness, Hydrocephalus, Flexion contracture, S... OMIM:615249
Aspartylglucosaminuria
Hepatomegaly, Recurrent respiratory infections, Cataract, Acne, Aspartylglucosaminuria, Kyphosis,... OMIM:208400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:604292
Erythermalgia, Primary
Pruritus, Keratoconjunctivitis sicca, Palpitations OMIM:133020
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Smooth philtrum, Telecanthus, Epicanthus, Ventriculomegaly, Decreased response to growth hormone ... OMIM:617260
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Conical incisor, Conjunctivitis, Microdontia, Corneal perforation, Nephr... OMIM:149730
Joubert Syndrome 16
Encephalocele, Renal cyst, Dandy-Walker malformation, Nephronophthisis OMIM:614465
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Hypertension, Microangiopathi... OMIM:235400
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Kyphosis, Elbow flexion contracture OMIM:618138
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Smooth philtrum, Laterally extended eyebrow, Aggressive behavior, Synophrys, Tented philtrum, Low... OMIM:618479
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... ORPHA:411703
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Hydrocephalus, Opacification of the corne... OMIM:231005
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Paranasal sinus hypoplasia, Cryptorchidism,... OMIM:603457
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Depressi... OMIM:300842
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Deeply set eye, Abnormal fallopian tube morphology ORPHA:2189
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Recurrent infections, High palate, Neutropenia, Hyperechogenic p... OMIM:617941
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Thin vermilion borde... OMIM:602557
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Homocystinuria, Ectopia lentis, Dental malocclusion, Spherophakia, Anteri... OMIM:601552
Developmental And Epileptic Encephalopathy 80
Proptosis, Ventriculomegaly, Hypertelorism OMIM:618580
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
Tumoral Calcinosis, Normophosphatemic, Familial
Conjunctivitis, Gingivitis OMIM:610455
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Pru... OMIM:602400
Atelosteogenesis, Type I
Encephalocele, Short neck, Thoracic platyspondyly, Hypertelorism, Cryptorchidism, Fused cervical ... OMIM:108720
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Pancreatic fibro... OMIM:208500
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Thin upper lip vermilion, Aggressive behavior, Thrombocytopenia, Cardio... ORPHA:572798
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Thrombocytopen... OMIM:277400
Pontocerebellar Hypoplasia, Type 7
Epicanthus, Ventriculomegaly, Micrognathia, Cryptorchidism, Synophrys, Hydrocephalus, Deep philtr... OMIM:614969
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ... OMIM:274150
Combined Oxidative Phosphorylation Deficiency 14
Ventriculomegaly, Copper accumulation in liver, Increased CSF lactate, Anemia, Aminoaciduria, Ele... OMIM:614946
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Abnormality... ORPHA:2538
Osteogenesis Imperfecta, Type Viii
Inguinal hernia, Kyphosis, Platyspondyly, Proptosis, Scoliosis, Vertebral compression fracture, D... OMIM:610915
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Akinesia, Hydrocephalus, Joint contracture, Hydranencephaly, Pterygium, Dandy-W... OMIM:225790
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Epistaxis, Albinism, Impaired ADP-induced platelet aggregation, O... OMIM:614074
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... OMIM:619040
Coffin-Siris Syndrome 1
Dry hair, Conical tooth, Ectopic kidney, Short philtrum, High palate, Compulsive behaviors, Micro... OMIM:135900
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Epicanthus, Cataract, Transient neutropenia, Chronic neutropenia, Multicystic ... ORPHA:500095
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... OMIM:612925
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Smooth philtrum, Thin upper lip vermilion, Tricuspid regurgitation... OMIM:612863
Mullegama-Klein-Martinez Syndrome
Preauricular pit, Congenital diaphragmatic hernia, Unsteady gait, Proptosis, Attention deficit hy... OMIM:301022
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Hypertension, Polycystic kidney dyspla... OMIM:618061
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hy... OMIM:183900
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Aymé-Gripp Syndrome
Oligodontia, Shallow orbits, Megalocornea, Cryptorchidism, Scoliosis, Narrow mouth, Hydrocephalus... ORPHA:1272
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Short neck, Protruding tongue, Cryptorchidism, Hydrocephalus, Hypoplastic toenails, Alveolar ridg... OMIM:612938
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Alopecia totalis, Normochromic anemia, Bradycardia, Cholelithiasis,... OMIM:618775
Bruck Syndrome 1
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... OMIM:259450
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Micrognathia, Sparse eyebrow, Renal cyst, Horseshoe kidney, Thick vermilion bor... OMIM:250410
Thrombocytopenia 1
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me... OMIM:313900
Keutel Syndrome
Sinusitis, Recurrent bronchitis, Pulmonary artery hypoplasia, Recurrent otitis media, Emphysema, ... OMIM:245150
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Congenital bilateral ptosis, Small nail, Malar flattening, Dow... OMIM:608257
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Renal insufficiency, Jaundice, Stage 5 chronic ... OMIM:613095
Fryns Syndrome
Ventriculomegaly, Tented upper lip vermilion, Corneal opacity, Hypospadias, Median cleft lip, Sho... ORPHA:2059
Cowden Syndrome 7
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... OMIM:616858
Hyperostosis Cranialis Interna
Proptosis OMIM:144755
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dermal atrophy, Proptosis, Thin skin, Generalized lipodystrophy ORPHA:90154
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Cleft palate, Renal cyst, Bile duct proliferation, Dandy... OMIM:603194
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Epicanthus, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary ... OMIM:617088
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Microcephaly 3, Primary, Autosomal Recessive
Proptosis OMIM:604804
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Micrognathia, Sparse eyebrow, Bilateral cleft lip and palate, Thin ... OMIM:618829
Branchioskeletogenital Syndrome
Abnormality of the vertebral spinous processes, Absent nipple, Thoracolumbar kyphoscoliosis, Hype... ORPHA:1299
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Ovotestis, Congenital diaphragmatic hernia, Asymmetric, line... OMIM:309801
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Acholic ... OMIM:613812
Otopalatodigital Syndrome Type 2
Encephalocele, Omphalocele, Cataract, Hypospadias, Camptodactyly of finger, Hypertelorism, Develo... ORPHA:90652
C Syndrome
Hepatomegaly, Epicanthus, Accessory oral frenulum, Micrognathia, Cryptorchidism, Renal cortical c... OMIM:211750
Neu-Laxova Syndrome 1
Ventriculomegaly, Cataract, Spina bifida, Hypertelorism, Short neck, Bifid uterus, Cryptorchidism... OMIM:256520
Meier-Gorlin Syndrome 7
Hypospadias, Cryptorchidism, Vertebral segmentation defect, Proptosis, Breast aplasia, Pulmonary ... OMIM:617063
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Raine Syndrome
Hypertelorism, Short neck, Hydrocephalus, Proptosis, Pulmonary hypoplasia, Arthrogryposis multipl... OMIM:259775
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Asplenia, Cleft hard... ORPHA:261537
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Opacification of... OMIM:313400
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Cataract, Bilateral cryptorchidism, Kyphosis, Hydrocephalus, Flexion contracture... ORPHA:3042
Semilobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep... ORPHA:93924
Marshall Syndrome
Hypertelorism, Cataract, Proptosis, Ectopia lentis ORPHA:560
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Asplenia, Cleft hard... ORPHA:261552
Jaberi-Elahi Syndrome
Broad-based gait, Cataract, Kyphosis, Inability to walk, Dysmetria, Gait ataxia, Choreoathetosis,... OMIM:617988
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis, Furrowed tongue, Lymphadenopathy, Macroglossia, ... ORPHA:2483
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... OMIM:612926
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation, Hip contracture, Inability to walk, Kyphosis, Unsteady gait, Recurrent pneumonia... OMIM:618493
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Renal cyst, Bile duct prolif... OMIM:611561
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Kyphosis, Hydrocephalus, Knee flexion contracture, Ventriculomegaly OMIM:603387
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dicarboxylic aciduria, Microvesicular hepatic steatosis, Congestive heart failure, Dilated cardio... OMIM:611126
Mowat-Wilson Syndrome
Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Asplenia, Cleft hard... ORPHA:2152
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscular hemoglobin conce... ORPHA:90041
Paroxysmal Hemicrania
Restless legs, Palpebral edema, Hypertension, Rhinitis, Conjunctival hyperemia, Ptosis ORPHA:157835
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... OMIM:300367
Loeys-Dietz Syndrome 1
Hypertelorism, Hydrocephalus, Cervical spine instability, Proptosis, Scoliosis, Camptodactyly, Pu... OMIM:609192
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Tricuspid regurgitation, Short neck, Micrognathia, Mi... OMIM:619879
Mucopolysaccharidosis Type 2, Severe Form
Increased size of nasopharyngeal adenoids, Abnormal vertebral morphology, Abnormal dental morphol... ORPHA:217085
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Extrahepatic cholestasis, Lymp... ORPHA:100078
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Hypertelorism, Proptosis, Camptodactyly OMIM:618529
Acromegaly
Mandibular prognathia, Synophrys, Wide penis, Osteoarthritis, Widely spaced teeth, Pituitary prol... ORPHA:963
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep... OMIM:613390
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Hyperconvex nail, Hi... OMIM:239300
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Peritonitis, Jaundi... ORPHA:131
Walker-Warburg Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Ventriculomegaly, Cryptorchidism, Hydrocephalus, ... ORPHA:899
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Micrognathia, Kyphosis, Deep philtrum, Periauricular skin pits, Orofacial cleft, Incomplete cleft... ORPHA:77300
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Redundant skin, External genital hypoplasia, Epispadias, High, narrow pala... ORPHA:2658
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Organic aciduria OMIM:210210
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Hypoplasia of eyelid, Cleft soft palate, Leukocytosis, Hydrocephalus, Renal hypoplasia,... OMIM:619321
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er... ORPHA:447
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Pruritus, Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis,... OMIM:601847
Mucopolysaccharidosis Type 2, Attenuated Form
Increased size of nasopharyngeal adenoids, Abnormal vertebral morphology, Abnormal dental morphol... ORPHA:217093
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Micrognathia, Sex reversal, High pala... OMIM:114290
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Ullrich Congenital Muscular Dystrophy 1
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Flexion contracture,... OMIM:254090
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... OMIM:612924
Cerebral Visual Impairment
Hydrocephalus, Unusual CNS infection, Attention deficit hyperactivity disorder, Meningitis, Infec... ORPHA:447788
Scapuloperoneal Spinal Muscular Atrophy
Broad-based gait, Hyperlordosis, Kyphosis, Respiratory insufficiency, Stridor, Scoliosis OMIM:181405
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Omphalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Abno... ORPHA:2166
Poland Syndrome
Encephalocele, Duplicated collecting system, Hypospadias, Short neck, Retinal hamartoma, Cryptorc... ORPHA:2911
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Asplenia, ... OMIM:273395
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... ORPHA:99901
Intellectual Developmental Disorder, Autosomal Dominant 57
Hypertelorism, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip... OMIM:618050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cataract, Spinal rigidity, Hydrocephalus, Buphthalmos, Congenital contracture, Per... OMIM:613150
Aspartylglucosaminuria
Mandibular prognathia, Hepatomegaly, Recurrent respiratory infections, Macroorchidism, Aspartylgl... ORPHA:93
Bruck Syndrome
Kyphosis, Respiratory insufficiency, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita... ORPHA:2771
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Depression, Agitation, Thin skin, Emotional lability, Striae distensae OMIM:610489
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Proptosis, Shallow orbits OMIM:619322
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Ataxia, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis, Camptodactyly, Flexion cont... ORPHA:88628
Osteoglophonic Dysplasia
Respiratory distress, Inguinal hernia, Hypospadias, Camptodactyly of finger, Hypertelorism, Short... OMIM:166250
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Acral ulceration OMIM:201300
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Epicanthus, Abnormality of the dentition, Osteoarthritis, Subcutaneous nodule, Cysto... ORPHA:285
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple, Hypertelorism, Hydrocephalus, Hemivertebrae, Scoliosis, Umbilical hernia OMIM:104350
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Supraventricular arrhythmia, Retinal arteriolar tortuosity, Raynaud phenomen... OMIM:611773
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Short neck, Synophrys, Hypertrophy of the urinary bladder, High palat... ORPHA:280633
Antley-Bixler Syndrome
Proptosis, Camptodactyly of finger, Hypertelorism ORPHA:83
Hec Syndrome
Communicating hydrocephalus, Abnormal pupil morphology, Vaginal hydrocele, Respiratory insufficie... ORPHA:2119
Ruvalcaba Syndrome
Kyphosis, Inguinal hernia, Scoliosis, Cryptorchidism OMIM:180870
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Malar flattening, Ventriculomegaly OMIM:218350
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Sclerocornea, Congenital diaphragmatic hernia, Epispadias, Abnormal fallopi... ORPHA:2556
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Flexion contracture, Respiratory insufficiency, Scoliosis ORPHA:1545
Holoprosencephaly 3
Hypotelorism, Proptosis, Holoprosencephaly, Cyclopia, Ventriculomegaly OMIM:142945
Isolated Congenital Alacrima
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... ORPHA:91416
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Micrognathia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoacid... OMIM:617913
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis, Congenital foot contractures ORPHA:3454
Trisomy 10P
Absent gallbladder, Epicanthus, Abnormality of the kidney, Micrognathia, Hemivertebrae, Retrognat... ORPHA:171929
Limb Body Wall Complex
Encephalocele, Ventral hernia, Corneal opacity, Spina bifida, Hypertelorism, Congenital diaphragm... ORPHA:2369
Achondroplasia
Respiratory distress, Lumbar hyperlordosis, Hydrocephalus, Upper airway obstruction, Lumbar kypho... OMIM:100800
Floating-Harbor Syndrome
Short neck, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum,... ORPHA:2044
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Pancreatic fibrosis, Tricuspid regurgitation, Hamartoma of tongue, Microglossia... OMIM:263520
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Atopic dermatitis, Thrombocytopenia ORPHA:3240
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Repeated pneumothoraces, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, ... OMIM:617602
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Cataract OMIM:615181
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Scoliosis ORPHA:2114
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Erythema nodosum, Pruritus, Splenomegaly, Jaundice, Ra... OMIM:613471
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Short neck, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Pul... OMIM:616546
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Monorchism, Camptodactyly of finger, Hypertelorism, Perineal fi... ORPHA:2753
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Diffuse alveolar hemorrhage, Mediastinal lymphadenopathy, Pulmonary ca... ORPHA:199241
Meckel Syndrome 13
Occipital encephalocele, Polycystic kidney dysplasia, Micrognathia OMIM:617562
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Telecanthus, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical... OMIM:231680
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypoplastic vertebral bodies, Platyspondyly, B... OMIM:618641
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura OMIM:605432
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Shoulder flexion contracture, Short neck, Cryptorchidism, Hydrocephalus, Flexion... OMIM:210710
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Hydrocephalus, Abnormality of the vertebral column, Pulmonary hypoplasia, Abnormal... OMIM:314390
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Endocrine-Cerebroosteodysplasia
Natal tooth, Ventriculomegaly, Small scrotum, Hypospadias, Bilateral cleft lip, Median cleft lip,... OMIM:612651
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Short neck, Deep philtrum, Hypoplasia of the iris, Capillary hemangioma, Microdontia, Cryptorchid... OMIM:619194
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Deeply set eye, Micro... ORPHA:268261
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Epicanthus, Sacral dimple, Intraventricular hemorrhage,... OMIM:613603
Stickler Syndrome
Recurrent respiratory infections, Cataract, Abnormal dental enamel morphology, Ectopia lentis, Hy... ORPHA:828
Cornelia De Lange Syndrome
Hypoplasia of penis, Short neck, Micrognathia, Synophrys, Low anterior hairline, Microcornea, Dow... ORPHA:199
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Fetal Akinesia Deformation Sequence 1
Hip contracture, Elbow contracture, Camptodactyly of finger, Hypertelorism, Short neck, Cryptorch... OMIM:208150
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hypopituitarism, ... OMIM:300942
Stickler Syndrome, Type I
Cataract, Micrognathia, Kyphosis, Osteoarthritis, Submucous cleft hard palate, Pierre-Robin seque... OMIM:108300
Hellp Syndrome
Back pain, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Ce... ORPHA:244242
14Q22Q23 Microdeletion Syndrome
Small scrotum, Anterior pituitary hypoplasia, Hypertelorism, Cryptorchidism, Proptosis, Preauricu... ORPHA:264200
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, Hypoplastic toenails, High palate, Short philtrum, Tricuspid... ORPHA:261337
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Proptosis, Vertebral arch anomaly ORPHA:85184
Acrocardiofacial Syndrome
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Hypertelorism, Cryptorchidism, Proptosis ORPHA:2008
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Recurrent respiratory infections, Right axis deviat... OMIM:232300
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor... ORPHA:294023
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Palpebral edema, Kyphosis, Abnorma... ORPHA:261144
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Kyphosis, Chronic kidney disease, Low ant... ORPHA:261222
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Okamoto Syndrome
Omphalocele, Redundant neck skin, Hypertelorism, Bifid uterus, Splenomegaly, Astigmatism, Proptos... ORPHA:2729
Sunct Syndrome
Restlessness, Palpebral edema, Facial erythema, Agitation, Conjunctival hyperemia, Ptosis ORPHA:57145
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Acute Interstitial Pneumonia
Reduced hematocrit, Hypertension, Bronchiectasis, Lymphadenopathy ORPHA:79126
Occipital Horn Syndrome
Recurrent urinary tract infections, Thick hair, Kyphosis, Jaundice, High, narrow palate, Hepatiti... ORPHA:198
Ivic Syndrome
Leukocytosis, Rectovaginal fistula, Thrombocytopenia, Scoliosis OMIM:147750
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Ataxia, Bone-marrow foam cells, Fetal ascites, Splen... OMIM:607625
Fucosidosis
Hepatomegaly, Corneal opacity, Lipoatrophy, Cardiomegaly, Kyphosis, Abnormality of the gallbladde... ORPHA:349
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis OMIM:615994
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Short neck, Hydrocephalus, Platyspondyly, Pulmonary hypoplasia, Se... OMIM:187600
Mody
Elevated hemoglobin A1c, Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuri... ORPHA:552
Micro Syndrome
Hypoplasia of penis, Cataract, Micrognathia, Cryptorchidism, Hypoplastic labia minora, Kyphosis, ... ORPHA:2510
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
C Syndrome
Sacral dimple, Epicanthus, Multicystic kidney dysplasia, Redundant skin, Abnormal hair pattern, M... ORPHA:1308
Bernard-Soulier Syndrome
Partially duplicated kidney, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Petec... ORPHA:274
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Carious teeth, Kyphosis, Coarse hair, Scoliosis, Sparse hair ORPHA:1883
Acrorenal-Mandibular Syndrome
Epicanthus, Absent nipple, Renal agenesis, Kyphoscoliosis, Micrognathia, Hemivertebrae, Uterus di... OMIM:200980
Isotretinoin-Like Syndrome
Micrognathia, Hydrocephalus, Cleft palate, Upslanted palpebral fissure, Preauricular skin tag, Ao... ORPHA:2306
Loeys-Dietz Syndrome 2
Inguinal hernia, Spontaneous pneumothorax, Hypertelorism, Hydrocephalus, Joint contracture of the... OMIM:610168
Rabin-Pappas Syndrome
Hypoventilation, Cataract, Hypertelorism, Hydrocephalus, Tracheomalacia OMIM:620155
Proboscis Lateralis
Cataract, Corneal opacity, External genital hypoplasia, Hypertelorism, Microcornea, Proptosis, Ho... ORPHA:141099
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Gait disturbance OMIM:236690
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... ORPHA:100086
Von Willebrand Disease, Type 3
Joint hemorrhage, Impaired platelet aggregation, Epistaxis, Thrombocytopenia OMIM:277480
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Micrognathia, Cleft palate, Attention deficit hyperactivity disorde... ORPHA:261197
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Cataract, Spinal rigidity, Hydrocephalus, Flexion contracture, Respiratory insuffi... OMIM:253800
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
Peho Syndrome
Recurrent respiratory infections, Epicanthus, Palpebral edema, Hydrocephalus, Gingival overgrowth... ORPHA:2836
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Multiple renal cysts, Papilloma, Thyroid adenoma, Adenocarcinoma ... ORPHA:220460
Arthrogryposis, Distal, Type 4
Kyphosis, Hypoplastic labia majora, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal ar... OMIM:609128
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Osteootohepatoenteric Syndrome
Proteinuria, Pruritus, Microvesicular hepatic steatosis, Hydrocephalus, Grade II vesicoureteral r... OMIM:619377
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmaloni... OMIM:251100
Somatomammotropinoma
Mandibular prognathia, Synophrys, Osteoarthritis, Widely spaced teeth, Pituitary prolactin cell a... ORPHA:314769
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Abnormal ... ORPHA:958
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Absence of the sacrum, Block vertebrae, Renal agenesis, Cardiomegaly, Asplenia, Aqu... OMIM:306955
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le... ORPHA:29073
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
15Q14 Microdeletion Syndrome
Acne, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, Long philt... ORPHA:261190
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hamartoma of tongue, Cleft upper lip, Cleft palate, Scoliosis, Polycystic kidney dysplasia, Ambig... OMIM:613091
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Hypospadias, Kyphoscoliosis, Knee flexion contracture, Proptosis, Minimal subcut... OMIM:210730
Yunis-Varon Syndrome
Cataract, Redundant neck skin, Hypospadias, Sclerocornea, Cardiomegaly, Hypertelorism, Cryptorchi... ORPHA:3472
Quebec Platelet Disorder
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... ORPHA:54595
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Sho... OMIM:261540
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Anemia, Abnormal form of the vertebral bodies ORPHA:3344
Acrofacial Dysostosis 1, Nager Type
Abnormality of the cervical spine, Sparse lower eyelashes, Malar flattening, Micrognathia, Aquedu... OMIM:154400
Multiple Endocrine Neoplasia, Type Iib
Hyperlordosis, Kyphosis, High, narrow palate, Thick lower lip vermilion, Elevated urinary epineph... OMIM:162300
Desmosterolosis
Epicanthus, Micrognathia, Hydrocephalus, Ambiguous genitalia, female, Gingival fibromatosis, Alve... OMIM:602398
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Dentinogenesis imperfecta, Scoliosis OMIM:259440
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Xylt1-Cdg
Hepatomegaly, Proptosis ORPHA:370930
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Genitopatellar Syndrome
Delayed eruption of teeth, Sparse scalp hair, Multicystic kidney dysplasia, Small scrotum, Microg... ORPHA:85201
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellu... ORPHA:90062
Colchicine Poisoning
Alopecia, Renal insufficiency, Myocarditis, Leukocytosis, Congestive heart failure, Hypovolemia, ... ORPHA:31824
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Nk-Cell Enteropathy
Hematochezia, Increased T cell count, Lymphoproliferative disorder ORPHA:263665
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:18
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... ORPHA:785
3M Syndrome
Delayed eruption of teeth, Hypospadias, Abnormal dental enamel morphology, Hyperlordosis, Short n... ORPHA:2616
Faciocardiomelic Syndrome
Telecanthus, Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusion, Hyperplasia of th... OMIM:612731
Thakker-Donnai Syndrome
Communicating hydrocephalus, Congenital diaphragmatic hernia, Hypertelorism, Short neck, Hemivert... ORPHA:1780
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Absent vas deferen... ORPHA:586
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis OMIM:614441
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... ORPHA:1946
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Cataract, Corneal opacity, Cryptorchidism, Meningoence... OMIM:236670
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis, Cleft palate, Micrognathia OMIM:181180
Rett Syndrome, Congenital Variant
Kyphosis, Tongue thrusting, Irritability, Athetosis, Scoliosis, Bruxism, Aspiration, Abnormal rep... OMIM:613454
Meckel Syndrome, Type 11
Occipital encephalocele, Polycystic kidney dysplasia OMIM:615397
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Kyphosis, Flexion contracture, Scoliosis OMIM:609541
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma, Keratoconjunctivitis sicca, Orthostatic hypotension due to autonomic d... ORPHA:43393
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Cataract, Block vertebrae, Failure of eruption of permanent teeth, Short neck, ... OMIM:272460
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Proptosis, Hypospadias, Abnormal dental enamel morphology ORPHA:85199
Peters Plus Syndrome
Short neck, Microcornea, Clitoral hypoplasia, Abnormal pulmonary vein morphology, Spina bifida oc... ORPHA:709
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Isolated Biliary Atresia
Hepatomegaly, Dark yellow urine, Pruritus, Atretic gallbladder, Splenomegaly, Jaundice, Cholestas... ORPHA:30391
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Elbow contracture, Hypertelorism, Asthma, Hydrocephalus, Knee flexion contract... OMIM:618162
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Telecanthus, Hepatomegaly, Hypopigmentation of hair, Splenomegaly, H... ORPHA:163746
Smith-Mccort Dysplasia 1
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... OMIM:607326
Pilomatrixoma
Pilomatrixoma OMIM:132600
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Hypertelorism, Hydrocephalus, Bifid thoracic vertebrae, Tracheom... ORPHA:268249
Mohr Syndrome
Telecanthus, Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, ... OMIM:252100
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Ptosis, Elevated urinary prostaglandin E2 level, Acne, Seborrheic dermatitis OMIM:167100
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Splenomegaly, Eruptive xanthomas, Pancreatitis, Lipemia retinalis OMIM:207750
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Streak ovary, Hypergonadotropic hypogonadism, Lumbar hyper... ORPHA:2232
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Ventriculomegaly, Thick eyebrow, Tented upper lip vermilion, Hydrocephalus, Long e... OMIM:617281
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Choreoacanthocytosis
Compulsive behaviors, Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movemen... ORPHA:2388
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Thoracic scoliosis, Kyphoscoliosis, Inability to walk, Lateral ventricle dilatati... ORPHA:300570
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Abnorm... ORPHA:107
Polysyndactyly With Cardiac Malformation
Renal cyst, Small nail, Hepatic cysts OMIM:263630
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Cerebrooculonasal Syndrome
Encephalocele, Epicanthus, Ventriculomegaly, Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Nar... OMIM:605627
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Gait disturbance ORPHA:85193
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Ectopia lentis, Flexion contracture, Irregula... OMIM:271640
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Decreased response to growth hormone stimulation test, Asthma, Pulmonary a... ORPHA:444077
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Cataract, Pulmonary hypoplasia, Proptosis ORPHA:50945
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis OMIM:300676
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ... OMIM:254900
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Exocrine pancreatic insufficiency ORPHA:309031
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Germ cell neoplasia, Elevat... ORPHA:90797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Flexion contracture, Developmental cataract, Lateral ventricle d... OMIM:613154
Knobloch Syndrome
Occipital encephalocele, Epicanthus, Cataract, Ectopia lentis, Abnormal hair morphology, Hydrocep... ORPHA:1571
Vascular Ehlers-Danlos Syndrome
Redundant skin, Abnormal pupil morphology, Subcutaneous nodule, Deeply set eye, Uterine rupture, ... ORPHA:286
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the vertebral column, ... ORPHA:93360
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Aqueductal stenosis, Hepatic fibrosis, Intrahepatic bile duct dila... OMIM:619534
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Eruptive xanthomas, Colitis, Recurrent pancreatitis, Pancreatitis, Li... OMIM:615947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Cataract, Hydrocephalus, Deeply set eye, Peters anomaly, Dandy-W... OMIM:614643
Peroxisome Biogenesis Disorder 4A (Zellweger)
Upslanted palpebral fissure, Hepatomegaly, Epicanthus inversus, Renal cyst OMIM:614862
Alagille Syndrome 1
Multiple small medullary renal cysts, Hemivertebrae, Microcornea, Papillary thyroid carcinoma, Ve... OMIM:118450
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure, Ataxia ORPHA:1861
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Isolated Exencephaly
Holoprosencephaly, Proptosis, Anterior pituitary hypoplasia, Posterior pituitary agenesis ORPHA:563612
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Sparse scalp hair, Cataract, Dental crowding, Anorexia... ORPHA:394
Holoprosencephaly 2
Alobar holoprosencephaly, Hypotelorism, Proptosis, Holoprosencephaly, Scoliosis, Cyclopia, Iris c... OMIM:157170
Zttk Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, High palate, Short philtru... OMIM:617140
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Ataxia, Hydrocephalus ORPHA:31
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Hypertelorism, Hypoplasia of the odontoid process, Atlantoaxial instability, Recurren... OMIM:271665
Glutaric Acidemia I
Choreoathetosis, Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hypertension, Mitral regurgitation, Polycystic kidney dysplasia, Hepatic cysts OMIM:173900
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Craniosynostosis 4
Ectopic posterior pituitary, Proptosis, Hypertelorism OMIM:600775
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Eruptive xanthomas, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis OMIM:238600
Leukonychia Totalis
Abnormal fingernail morphology, Abnormal eyelash morphology, Nephrolithiasis, Adenoma sebaceum, A... ORPHA:2387
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ataxia, Athetosis, Subependymal nodules, Dysphagia, Ventriculomegaly ORPHA:25
Catel-Manzke Syndrome
Inguinal hernia, Hypertelorism, Short neck, Cryptorchidism, Proptosis, Scoliosis, Camptodactyly, ... OMIM:616145
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, M... OMIM:276700
Specc1L-Related Hypertelorism Syndrome
Preauricular pit, Omphalocele, Hypertelorism, Cryptorchidism, Proptosis, Shawl scrotum, Umbilical... ORPHA:1519
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormal dental enamel morphology, Kyphosis, Upslanted palpebral fissure, Vertebral seg... ORPHA:1005
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... OMIM:614188
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Hydrocephalus, Buphthalmos, Respiratory failure, Ventriculomegaly OMIM:616538
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Hypertelorism, Flexion contracture, Atrophic scars, Proptosis, Scoliosis OMIM:130070
Baller-Gerold Syndrome
Micrognathia, High palate, Midface capillary hemangioma, Spina bifida occulta, Abnormal vertebral... OMIM:218600
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Occipital Horn Syndrome
Orthostatic hypotension, Redundant skin, Pelvic bone exostoses, Ureteral obstruction, Kyphosis, B... OMIM:304150
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst OMIM:605231
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Moebius Syndrome
Epicanthus, Corneal opacity, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue, Mic... ORPHA:570
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Cerebrocostomandibular Syndrome
Epicanthus, Cleft soft palate, Micrognathia, Carious teeth, Cleft lip, Ectopic kidney, Short hard... OMIM:117650
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:616937
Robinow Syndrome, Autosomal Dominant 1
Sacral dimple, Inguinal hernia, Hypertelorism, Short neck, Cryptorchidism, Hypoplastic labia majo... OMIM:180700
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Kyphosis, Dysphagia, Hypopnea, Restrictive ventilatory defect, Astigmatis... OMIM:619482
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... OMIM:177170
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Oeis Complex
Omphalocele, Absence of the sacrum, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia... OMIM:258040
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Septate vagina... ORPHA:2237
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ve... OMIM:602200
Pfeiffer Syndrome
Hypertelorism, Hydrocephalus, Shallow orbits OMIM:101600
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Aggressive behavior, Kyphosis, Cryptorchidism, Subcutaneous nodule, Corn... OMIM:309000
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Distal Deletion 15Q
Thin upper lip vermilion, Multicystic kidney dysplasia, Hypospadias, Mitral stenosis, Micrognathi... ORPHA:1596
Holoprosencephaly 7
Omphalocele, Hypertelorism, Alobar holoprosencephaly, Hydrocephalus, Hypotelorism, Lobar holopros... OMIM:610828
Ramon Syndrome
Delayed eruption of teeth, Enlarged labia minora, Kyphosis, Gingival fibromatosis, Narrow palate,... OMIM:266270
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Hydrocephalus OMIM:300863
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Prolonged QRS complex, Cardiomegaly, Left axis deviation, Congestive heart failure, Hyd... OMIM:261740
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne... OMIM:603860
Johanson-Blizzard Syndrome
Downturned corners of mouth, Hepatic fibrosis, Hypoplasia of the primary teeth, Micropenis, Aplas... OMIM:243800
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Lymphatic Malformation 6
Epicanthus, Micrognathia, Splenomegaly, Hydrocele testis, Scoliosis, Intestinal lymphangiectasia,... OMIM:616843
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Autosomal Recessive Ataxia, Beauce Type
Ataxia, Kyphosis, Dysmetria, Gait disturbance, Scoliosis ORPHA:88644
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Developmental cataract OMIM:600559
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia OMIM:600273
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Micrognathia, Hydrocephalus, Wide mouth, Platyspondyly, Short philtrum ORPHA:163966
Uremic Pruritus
Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Chronic kidney disease... ORPHA:94059
Craniotubular Dysplasia, Ikegawa Type
Hypertelorism, Increased intervertebral space, Platyspondyly, Proptosis, Mydriasis OMIM:619727
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Iris coloboma, Ventriculomegaly OMIM:615219
Arachnoiditis
Hydrocephalus, Meningitis ORPHA:137817
Cdags Syndrome
Ptosis, Sparse scalp hair, Sparse eyelashes, Hypospadias, Sparse eyebrow, Kyphosis, Rectourethral... OMIM:603116
Iniencephaly
Encephalocele, Omphalocele, Spina bifida, Hyperlordosis, Congenital diaphragmatic hernia, Myelome... ORPHA:63259
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume, Petechiae OMIM:273900
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ataxia, Apnea, Hydrocephalus, Gait disturbance, Ventriculomegaly ORPHA:395
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity, Communicating hydrocephalus ORPHA:1064
Aromatase Deficiency
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... ORPHA:91
Osteogenesis Imperfecta, Type Iii
Kyphosis, Scoliosis, Pulmonary arterial hypertension, Biconcave vertebral bodies, Dentinogenesis ... OMIM:259420
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Epicanthus, Cataract, Hypoplasia of penis, Ventriculomegaly, Urethrovaginal fistula, Micrognathia... ORPHA:93271
15q26 overgrowth syndrome
Mandibular prognathia, Renal agenesis, Abnormality of the kidney, Short neck, Micrognathia, Horse... DECIPHER:81
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Neoplasm of the heart, Megacystis, Sepsis ORPHA:2241
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Elevated hemoglobin A1c, Flexion contracture, Generalized lipodystrophy, Proptosis,... OMIM:619127
Pallister-Killian Syndrome
Small scrotum, Tented upper lip vermilion, Short neck, Micrognathia, Renal cyst, Sparse hair, Bif... OMIM:601803
Marfanoid Habitus With Situs Inversus
Kyphosis, Lens subluxation, Scoliosis OMIM:609008
Dyggve-Melchior-Clausen Disease
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... OMIM:223800
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... OMIM:619895
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Kyphosis, Respiratory insufficiency, Contractures of the large joints, Dysphagia, Ventricu... OMIM:617527
Chromosome 1P36 Deletion Syndrome, Distal
Ectopic kidney, Synophrys, Orofacial cleft, High palate, Bifid uvula, Self-mutilation, Opposition... OMIM:607872
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Micrognathia, Short neck, High, narrow palate, Rena... ORPHA:3015
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus, Hypertelorism ORPHA:2378
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Epicanthus, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis OMIM:601539
Plaa-Associated Neurodevelopmental Disorder
Apnea, Kyphosis, Respiratory insufficiency, Contractures of the large joints, Impaired oropharyng... ORPHA:521426
Microphthalmia With Limb Anomalies
Abnormal eyebrow morphology, Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia ... ORPHA:1106
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Leopard Syndrome 1
Hypospadias, Kyphoscoliosis, Hypertelorism, Short neck, Cryptorchidism, Cafe-au-lait spot, Hypopl... OMIM:151100
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Yellow papule, Angina pectoris, Cerebral hemorrhage, Kyphosis, High,... OMIM:177850
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Short neck, Cryptorchidis... ORPHA:2636
Coffin-Siris Syndrome 12
Micrognathia, Synophrys, Low anterior hairline, High palate, Abnormal repetitive mannerisms, Hypo... OMIM:619325
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Entropion, Hypospadias, Trichiasis, Micrognathia, Sparse eyebrow, Kyphosis, High palate, Short ph... OMIM:609944
Osteogenesis Imperfecta, Type Vii
Hypoplastic pulmonary veins, Absent pulmonary artery, Proptosis, Scoliosis, Vertebral compression... OMIM:610682
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Hypospadias, Congenital diaphragmatic hernia, Hydrocephalus, Anencep... OMIM:313850
Pmm2-Cdg
Mandibular prognathia, Intracranial hemorrhage, Hyperplastic labia majora, Hepatic fibrosis, High... ORPHA:79318
Fibular Hemimelia
Spina bifida, Renal dysplasia, Thrombocytopenia ORPHA:93323
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Smooth philtrum, Thin upper lip vermilion, Telecanthus, Micrognathia, Renal cortical cysts, Downt... OMIM:618548
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Hernia of the abdominal wall, Anomalous pulmonary venous return ORPHA:2184
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Spondyloarthropathy, Susceptibility To, 1
Back pain, Anterior uveitis, Aortic regurgitation, Psoriasiform dermatitis, Kyphosis, Oligoarthri... OMIM:106300
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Hypospadias, Bifid uterus, Micrognathia, Anencephaly, Cleft p... OMIM:236680
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Aggressive behavi... OMIM:300967
Neurooculorenal Syndrome
Iris atrophy, Ectopic posterior pituitary, Hypoplasia of the bladder, Highly arched eyebrow, Micr... OMIM:620305
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Mosaic Trisomy 20
Vertebral fusion, Abnormality of the kidney, Micrognathia, Cryptorchidism, Kyphosis, Cleft lip, S... ORPHA:1724
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Anorexia, Kyphosis, Melanocytic nevus, Scoliosis, Multiple cafe-au-lait spots ORPHA:1969
Femoral-Facial Syndrome
Thin upper lip vermilion, Renal agenesis, Abnormal renal collecting system morphology, Micrognath... OMIM:134780
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasia/aplasia, Cryptorchidism, Uret... ORPHA:261265
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Kyphosis, Abnormal ... ORPHA:2769
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Irregular vertebral endplates, High palate, Widely spaced teeth, Microdontia, Lumbar ... OMIM:143095
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Oliguria, Dry skin, ST segment depression, Hypotension,... ORPHA:466650
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Overgrowth of external genit... ORPHA:508
Cono-Spondylar Dysplasia
Kyphosis, Hypertelorism, Scoliosis, Short neck ORPHA:420794
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis OMIM:617821
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Dif... ORPHA:268810
Primrose Syndrome
Restlessness, Hip contracture, Ataxia, Hypergonadotropic hypogonadism, Aggressive behavior, Hyper... OMIM:259050
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Yunis-Varon Syndrome
Cataract, Redundant neck skin, Anterior concavity of thoracic vertebrae, Sclerocornea, Hypertelor... OMIM:216340
Otopalatodigital Syndrome, Type Ii
Omphalocele, Cataract, Hypospadias, Elbow contracture, Kyphoscoliosis, Short neck, Hypertelorism,... OMIM:304120
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Orofaciodigital Syndrome Iii
Kyphosis, Hypertelorism OMIM:258850
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Gingival overgrowth, Gingivitis, Nephrolithiasis, Periodontitis, Abnor... ORPHA:722
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Micrognathia, Hydrocephalus, Urete... OMIM:617667
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Subcutaneous nodule, Abnormality of the uteru... ORPHA:857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Ventriculomeg... OMIM:615287
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Spina bifida, Micrognathia, Kyphosis, Myelomeningocele, Meningocele... ORPHA:1393
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Hydrocephalus, Bifid uterus ORPHA:2736
Wrinkly Skin Syndrome
Microretrognathia, Delayed eruption of teeth, Epicanthus, Redundant skin, Short nail, Carious tee... OMIM:278250
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Conjunctival hyperemia, Neuromuscular dysphagia, Impulsivity ORPHA:240071
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Hydrocephalus, Tubular luminal dilatation, Renal corticomedullary cysts, Hyp... OMIM:219730
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Diastema, Cryptorchidism, Kyphosis, Supernumerary too... OMIM:619718
Holt-Oram Syndrome
Kyphosis, Anomalous pulmonary venous return, Scoliosis ORPHA:392
Genitopatellar Syndrome
Delayed eruption of teeth, Sparse scalp hair, Multicystic kidney dysplasia, Small scrotum, Enlarg... OMIM:606170
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro... ORPHA:2473
Cleidocranial Dysplasia 1
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, Kyphosis, High, narrow p... OMIM:119600
Phacoanaphylactic Uveitis
Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ... ORPHA:209959
Bardet-Biedl Syndrome 12
Hydroureter, Abdominal mass, Hydrometrocolpos, Cystic renal dysplasia, Hydronephrosis, Hypogonadi... OMIM:615989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Hydrocephalus, Buphthalmos, Pallor, Opacification of the corneal stroma, Megalocornea, ... OMIM:253280
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Absent anterior chamb... OMIM:259770
Structural Heart Defects And Renal Anomalies Syndrome
Preauricular skin tag, Renal insufficiency, Systolic heart murmur, Renal cyst OMIM:617478
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Hemivertebrae, ... OMIM:164210
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... ORPHA:2973
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Hydrocephalus, Pituitar... ORPHA:91350
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Epicanthus, Multiple renal cysts OMIM:618733
Alkaptonuria
Low back pain, Vertebral fusion, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, A... OMIM:203500
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Thin upper lip vermilion, Epicanthus, Kyphosis, Synophrys, Bilateral ptosis, Downturned corners o... OMIM:619557
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocepha... OMIM:175780
Townes-Brocks Syndrome 1
Preauricular pit, Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias... OMIM:107480
Osteogenesis Imperfecta, Type Iv
Kyphosis, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Kyphosis, Hypercalciuria, Hydroxyprolinuria, Premature l... OMIM:239000
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Hydronephrosis, Rectova... OMIM:236700
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Short neck, Microg... ORPHA:3404
Joubert Syndrome 5
Occipital encephalocele, Aggressive behavior, Impaired renal concentrating ability, Stage 5 chron... OMIM:610188
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis, Dysdiadochokinesis, Difficulty walking, Dysmetria ORPHA:171629
Idiopathic Panuveitis
Conjunctival hyperemia, Cataract, Red eye, Posterior synechiae of the anterior chamber ORPHA:280921
Penile Agenesis
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... ORPHA:49
Shprintzen Omphalocele Syndrome
Omphalocele, Neonatal respiratory distress, Lumbar hyperlordosis, Kyphosis, Scoliosis OMIM:182210
Joubert Syndrome 39
Occipital encephalocele, Polycystic kidney dysplasia OMIM:619562
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... OMIM:300106

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 Tom1l2

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 Tom1l2.

No publications found that use IMPC mice or data for Tom1l2.

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