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Gene: Tgfb1 MGI:98725

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

transforming growth factor, beta 1

Synonyms:

Tgfb-1, TGF-beta1, TGFbeta1, Tgfb, TGF-beta 1

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 Tgfb1 mutations

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

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

Human diseases associated with Tgfb1 (5 diseases)
Human diseases predicted to be associated with Tgfb1 (3167 diseases)

The table below shows human diseases associated to Tgfb1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cystic Fibrosis	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H...	OMIM:219700
Camurati-Engelmann Disease	Delayed eruption of teeth, Cachexia, Anorexia, Carious teeth, Splenomegaly, Abnormal subcutaneous...	ORPHA:1328
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L...	OMIM:618213
Camurati-Engelmann Disease	Mandibular prognathia, Reduced subcutaneous adipose tissue, Increased bone mineral density, Cario...	OMIM:131300
Cystic Fibrosis	Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Abnormality of the li...	ORPHA:586

The table below shows human diseases predicted to be associated to Tgfb1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Cerebral Cavernous Malformations 4	Cerebral cavernous malformation	OMIM:619538
Stroke, Ischemic	Stroke	OMIM:601367
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Moyamoya Disease 2	Transient ischemic attack, Moyamoya phenomenon	OMIM:607151
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Aneurysm, Intracranial Berry, 3	Cerebral berry aneurysm	OMIM:609122
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Pol...	OMIM:613677
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diar...	OMIM:618108
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte...	ORPHA:247798
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h...	ORPHA:231580
Hereditary Mixed Polyposis Syndrome	Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato...	ORPHA:157794
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp...	OMIM:103900
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p...	ORPHA:220460
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal...	ORPHA:424016
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ...	ORPHA:447877
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal...	ORPHA:320
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne...	ORPHA:231625
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Verrucae	OMIM:613860
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp...	OMIM:618363
Pfapa Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss, A...	ORPHA:42642
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level	OMIM:619406
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Adenomatous colonic...	OMIM:276300
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system...	OMIM:264350
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Cervical...	OMIM:142680
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Recurrent opportunistic infections, Chro...	OMIM:608971
Hall-Riggs Syndrome	Kyphosis, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Irregular verteb...	OMIM:234250
Mixed Connective Tissue Disease	Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Meningitis, Hepatomegaly, Alopecia, He...	ORPHA:809
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was...	OMIM:610600
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Neuroendocrine Neoplasm Of Appendix	Anorexia, Poor appetite, Adenocarcinoma of the colon, Abdominal colic, Functional intestinal obst...	ORPHA:100079
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Iron deficiency...	ORPHA:37042
Cerebral Cavernous Malformations	Intracranial hemorrhage, Cerebral cavernous malformation	OMIM:116860
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea	OMIM:619398
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pure red cell a...	ORPHA:436159
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Mucoid diarrhea, Decreased proportion of class-switched memory ...	OMIM:615767
Graft Versus Host Disease	Skeletal muscle atrophy, Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepa...	ORPHA:39812
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Elev...	OMIM:300539
Tularemia	Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Conjunctivitis, Otitis media, C...	ORPHA:3392
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ...	OMIM:613953
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Chronic diarrhea, T lymphocytopenia, Colitis,...	OMIM:619164
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Uveitis, Inflammation of the la...	OMIM:614700
Liddle Syndrome 1	Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease...	OMIM:177200
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Anal fissure, Perianal abscess, Lymphadeni...	OMIM:618935
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Nephrolithiasis, Abnormal circulating renin, Intracranial hemorrh...	ORPHA:369929
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Colorectal Cancer, Hereditary Nonpolyposis, Type 6	Hereditary nonpolyposis colorectal carcinoma	OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7	Hereditary nonpolyposis colorectal carcinoma	OMIM:614385
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
48,Xyyy Syndrome	Impulsivity, Aggressive behavior, Short neck, Thick lower lip vermilion, Irregularly spaced teeth...	ORPHA:99329
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur...	ORPHA:47612
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen...	ORPHA:911
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Chronic p...	OMIM:618986
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism...	OMIM:177735
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Renal cortica...	ORPHA:231632
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp...	OMIM:616433
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, D...	ORPHA:556030
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Crohn's dis...	ORPHA:69126
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A...	OMIM:616100
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Cardiac arrest, Eosinophilia, Pu...	ORPHA:139402
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda...	ORPHA:75566
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno...	ORPHA:2494
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Myocardial infarction, Malabso...	ORPHA:3452
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Severe short stature, Alopecia,...	OMIM:203550
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Mediastinal lymphadenopathy, Dy...	ORPHA:133
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Acne, Recurrent skin infections, Ap...	OMIM:300635
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Desquamative in...	OMIM:615952
Systemic Capillary Leak Syndrome	Pericarditis, Rhinorrhea, Cough, Myocarditis, Leukocytosis, Diarrhea, Cardiorespiratory arrest, W...	ORPHA:188
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De...	ORPHA:90793
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Tachypnea, Leukopenia, Sparse hair, Pustular rash, Raynaud phe...	OMIM:615934
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis...	OMIM:240500
Yao Syndrome	Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Diarrhea,...	OMIM:617321
Intermediate Generalized Junctional Epidermolysis Bullosa	Oral mucosal blisters, Scarring alopecia of scalp, Growth delay, Atrophic scars, Nail dystrophy, ...	ORPHA:79402
East Syndrome	Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteron...	ORPHA:199343
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Conjunctiviti...	OMIM:603552
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Polyuria, Renal salt wasting, Hypertension, Enuresis, Hypokalemia, Increased circul...	OMIM:612780
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
X-Linked Agammaglobulinemia	Sinusitis, Abnormal lung morphology, Glossoptosis, Conjunctivitis, Neutropenia, Chronic otitis me...	ORPHA:47
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Stimmler Syndrome	Short stature, Abnormal dental enamel morphology, Type II diabetes mellitus, Microdontia, Intraut...	ORPHA:3199
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Lymphopenia, Splenom...	OMIM:617591
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin...	ORPHA:33110
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Pudendal Neuralgia	Abdominal colic, Anal canal adenocarcinoma, Genital neoplasm, Neoplasm of the genitourinary tract...	ORPHA:60039
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Pericarditis, Raynaud phenomenon, Abnormal lung morpho...	ORPHA:767
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556037
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Failure to thrive, L...	OMIM:618495
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, H...	OMIM:203400
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Renal insufficiency, Hydroureter, Polyhydramnios, Anorexia, Nephrogeni...	ORPHA:223
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Diarrhea, Recurrent opportunistic infections, Arthritis, T lymphocy...	OMIM:601457
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Facial palsy, Eosinophilia, Flexion contracture, Proximal amyotrophy,...	OMIM:253600
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Fulm...	OMIM:308240
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Short stature, Kyphoscoliosis, Aggressive behavior, Synophrys, Dental malocclusion...	OMIM:615541
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Increased propo...	OMIM:618982
Apparent Mineralocorticoid Excess	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:218030
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short stature, Short neck, Osteoporosis, Pseudohypoparathyroidism, Obe...	OMIM:612463
Linear Iga Dermatosis	Renal neoplasm, Inflammation of the large intestine, Epistaxis, Bladder neoplasm	ORPHA:46488
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia...	OMIM:607594
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Vomiting,...	ORPHA:2552
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Hypodontia, Nail ...	OMIM:226650
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Chronic lymphocytic meningitis, Recurrent urinary tract infecti...	OMIM:209920
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting...	ORPHA:90795
Liddle Syndrome 2	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618114
Liddle Syndrome 3	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618126
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized l...	ORPHA:829
American Trypanosomiasis	Hepatomegaly, Skin rash, Aganglionic megacolon, Myocarditis, Diarrhea, Splenomegaly, Congestive h...	ORPHA:3386
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Scrub Typhus	Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Dyspnea, Meningitis, Lymphadenopathy, Hyp...	ORPHA:83317
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Uveitis, Conjunctivitis, Vomiting, Recurrent pharyngitis, Leukocytosis, Vasc...	ORPHA:32960
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Skin rash, Raynaud phenomenon, Myocarditis, ...	ORPHA:206569
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Short neck, Open bite, Splenom...	ORPHA:61
Mcdonough Syndrome	Mandibular prognathia, Short stature, Cachexia, Micrognathia, Open bite, Kyphosis, Cryptorchidism...	ORPHA:2471
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Legionnaires Disease	Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Abnormal lung morphology, Myocar...	ORPHA:549
Kerion Celsi	Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormality of the skin, Recurrent ...	ORPHA:499
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Atopic ...	ORPHA:217390
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ...	OMIM:614492
Aspergillosis	Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Meningitis, Chro...	ORPHA:1163
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative ...	OMIM:617638
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne...	ORPHA:36234
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Alopecia of scalp, Trichodysplasia, Amelogenesis imperfecta	ORPHA:79129
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Nephrolithiasis, Hypertension, Second degree atrioventricular block, Hypokalemia, Primary hyperal...	OMIM:615474
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension	OMIM:201910
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Edema, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hyp...	ORPHA:97362
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia, Hyperaldosteronism	OMIM:605635
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux...	ORPHA:183
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Atrial fibrillation, Proteinuria, Recurrent urinary tract infections, Dysuri...	ORPHA:976
Scedosporiosis	Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br...	ORPHA:449280
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle...	ORPHA:141152
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Edema, Renal salt wasting, Increas...	OMIM:613090
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Respiratory insufficiency, Weight lo...	ORPHA:26790
Eosinophilic Fasciitis	Fasciitis, Myositis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis, Muscul...	ORPHA:3165
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,...	ORPHA:1133
17Q11.2 Microduplication Syndrome	Short stature, Abnormal dental enamel morphology, Sparse eyelashes, Sparse eyebrow, Thin vermilio...	ORPHA:139474
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hypovolem...	ORPHA:427
Anal Canal Carcinoma	Anal canal squamous carcinoma	OMIM:105580
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Colitis, Min...	OMIM:617006
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon...	OMIM:620189
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Intestinal obstruction, Lung abscess, Liver abscess, Abnormal peri...	ORPHA:67
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, ...	OMIM:602522
Q Fever	Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis...	ORPHA:781
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Stroke, Constrictive pericarditis, Ple...	OMIM:602248
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Short stature, Increased connective tissue, Carious teeth, Scarring alopecia of scalp, Nail dystr...	OMIM:226670
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia, Short stature, Joint stiffness	ORPHA:2871
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Splenomegaly, Di...	ORPHA:99745
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Malar rash, Arthritis, Leukopenia, Pleuritis, Ne...	OMIM:152700
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Kyphosis, Dental malocclusion, Patchy alopec...	OMIM:141300
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Avian Influenza	Respiratory distress, Nonproductive cough, Tachypnea, Leukopenia, Conjunctivitis, Vomiting, Cough...	ORPHA:454836
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Pulmonary tuberculos...	ORPHA:183675
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Downturned corners of mouth, Neutropenia, Intrauterine growth retardation, ...	ORPHA:2643
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Recurrent pneumonia, Chronic diarrhea, Monocytosis, Inflammation of t...	OMIM:619281
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th...	ORPHA:81
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Recurrent respiratory infections, Skin rash, Abdominal pain, Perianal abscess,...	OMIM:301074
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm...	ORPHA:563
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Growth delay, Atrophic scars, Nail dystrophy, Keloids, Enam...	ORPHA:79405
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su...	OMIM:227500
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Short stature, Kyphoscoliosis, Osteoporosis, Growth delay, Malar flattening, Failur...	OMIM:614727
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp...	ORPHA:251393
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal b...	ORPHA:31824
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Pycnodysostosis	Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy...	ORPHA:763
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Lymphopenia, Myositis, Alopecia, Skin rash, Discoid lu...	ORPHA:93552
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Pleural e...	ORPHA:85414
Immunodeficiency 46	Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia,...	OMIM:616740
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Meningitis, Acne, R...	ORPHA:117
Desmoid Disease, Hereditary	Colorectal polyposis, Breast carcinoma, Colon cancer, Desmoid tumors	OMIM:135290
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita...	OMIM:202010
Muir-Torre Syndrome	Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ...	OMIM:158320
Immunodeficiency 48	Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Pneumonia, Absence of CD8-posi...	OMIM:269840
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Short stature, Abnormality of the dentition, Kyphosis, Dental malocclusion...	ORPHA:1858
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption,...	ORPHA:77297
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Cataract, Chronic active hepatitis, Alopecia, Malabsorpti...	OMIM:240300
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti...	ORPHA:331235
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Neutropenia, Infectious encephalitis, Meningitis, Enteroviral ...	OMIM:300755
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci...	ORPHA:90791
Reynolds Syndrome	Hepatomegaly, Skin rash, Telangiectasia of the skin, Pruritus, Abnormal gastric mucosa morphology...	ORPHA:779
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydr...	OMIM:601678
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Pleuritis, Malar rash	OMIM:609939
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec...	OMIM:615122
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Skeletal muscle atrophy, Myositis, Biliary atresia, Calf muscle hypertrophy, Proximal muscle weak...	ORPHA:565899
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting	OMIM:201710
Potocki-Lupski Syndrome	Mandibular prognathia, Hyperactivity, Dental crowding, Small for gestational age, Short stature, ...	OMIM:610883
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Myocardial infarction, Renal salt wasting, Decreased urinar...	ORPHA:95409
Familial Adenomatous Polyposis 3	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma...	OMIM:616415
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Congestive heart failure, Dil...	OMIM:615895
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Growth delay, Atrophic scars, Nail dystrophy, Keloids, Enam...	ORPHA:79406
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Immunodeficiency 70	Celiac disease, Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-posi...	OMIM:618969
Brucellosis	Liver abscess, Bronchitis, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnormality of the liv...	ORPHA:1304
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Craniosynostosis 3	Sagittal craniosynostosis, Dental malocclusion, Low anterior hairline, Left unicoronal synostosis...	OMIM:615314
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:158061
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Recurrent herpes, Pneumonia, Eosinophilia, Diarrhea, Recurrent pneumoni...	ORPHA:169160
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Idiopathic Bronchiectasis	Myocardial infarction, Cachexia, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Crack...	ORPHA:60033
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence...	OMIM:616098
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Carnitine-Acylcarnitine Translocase Deficiency	Elevated creatine kinase after exercise, Dicarboxylic aciduria, Hypothermia, Elevated circulating...	ORPHA:159
Ramon Syndrome	Delayed eruption of teeth, Diabetes mellitus, Abnormal dental enamel morphology, Gingival fibroma...	ORPHA:3019
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Yellow-brown disco...	ORPHA:1946
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Myositis, Skeletal muscle atrophy, Autoimmune hemolytic anemia, Splenomegaly, Flexi...	OMIM:619183
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Thoracic scoliosis, Multiple joint contractures, Selective tooth agenesis, Lack of fa...	ORPHA:2959
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Dehydration, H...	ORPHA:171876
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Neoplasm of th...	ORPHA:171
Mannose-Binding Lectin Deficiency	Recurrent herpes, Failure to thrive, Recurrent skin infections, Recurrent meningococcal disease, ...	OMIM:614372
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse ha...	OMIM:619692
Juvenile Nephropathic Cystinosis	Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri...	ORPHA:411634
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Obesity, Pro...	OMIM:300602
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Hepatic failure, Atherosclerosis, Dysphagia	ORPHA:2724
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short stature, Osteoporosis, Platyspondyly, Short philtrum, Dentinogen...	ORPHA:71267
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Atrophic scars, Nail dystrophy, Enamel hypoplasia, Failure to thrive	OMIM:226700
Complement Component 4B Deficiency	Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media	OMIM:614379
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short stature, Short neck, Elevated circulating thyroid-stimulating ho...	OMIM:612462
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections, Abnormal hair morphology	ORPHA:345
Bartter Syndrome, Type 2, Antenatal	Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinos...	OMIM:241200
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp...	ORPHA:454840
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Hypocomplementemic Urticarial Vasculitis	Uveitis, Conjunctivitis, Cough, Emphysema, Meningitis, Hepatomegaly, Pericardial effusion, Lympha...	ORPHA:36412
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia, Decreased response t...	OMIM:245590
Dermatitis, Atopic	Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Asthma, At...	OMIM:603165
Idiopathic Achalasia	Bronchitis, Cough, Wheezing, Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recur...	ORPHA:930
Rheumatic Fever	Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, ...	ORPHA:3099
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin r...	ORPHA:331206
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal scle...	OMIM:144750
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Vertebra...	OMIM:610967
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral...	ORPHA:36382
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, D...	OMIM:307200
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Osteopenia, Joint laxity, Short stature, Camptodactyly of finger, Kyph...	OMIM:612350
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Elevated...	OMIM:615422
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short stature, Short neck, Osteoporosis, Pseudohypoparathyroidism, Obe...	OMIM:103580
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Vomiting...	ORPHA:31204
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ...	ORPHA:397596
Maxillonasal Dysplasia, Binder Type	Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion	OMIM:155050
Bartter Syndrome Type 4	Hyponatremia, Polyhydramnios, Renal salt wasting, Increased urinary potassium, Impaired renal con...	ORPHA:89938
Pulmonary Blastoma	Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough	ORPHA:64741
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Obesity	ORPHA:88643
Rubinstein-Taybi Syndrome 2	Hyperactivity, Thick eyebrow, Short stature, Highly arched eyebrow, Micrognathia, Carious teeth, ...	OMIM:613684
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri...	OMIM:604416
Osteogenesis Imperfecta, Type Xxii	Short stature, Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractur...	OMIM:619795
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Recurrent candida infections, T lymphocytopenia...	ORPHA:83471
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Lumbar hyperlordosis, Achilles tendon contracture, Dental malocclusion,...	OMIM:619719
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema...	OMIM:174900
Mulibrey Nanism	Dental crowding, Short stature, Absent frontal sinuses, Thickened cortex of long bones, Hypoplast...	OMIM:253250
Dental Anomalies And Short Stature	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Hypertrichosis, Oligodontia, Pla...	OMIM:601216
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, Dental malocclusion, High palate, Dysphagia, Arthrogryposis multiplex cong...	OMIM:608931
Congenital Enterovirus Infection	Respiratory distress, Abnormal macrophage morphology, Skin rash, Pericardial effusion, Myocarditi...	ORPHA:292
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Filippi Syndrome	Postnatal growth retardation, Cryptorchidism, Hypertrichosis, Thin vermilion border, Short philtr...	OMIM:272440
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Recurrent respiratory infections, Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal e...	ORPHA:2575
Intellectual Disability, Birk-Barel Type	Hyperactivity, Tented upper lip vermilion, Foot joint contracture, Sacral dimple, Highly arched e...	ORPHA:166108
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, V...	OMIM:619381
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Growth delay, Atrophic scars, Nail dystrophy, Enamel hypopl...	ORPHA:79411
Whim Syndrome	Lymphopenia, Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Res...	ORPHA:51636
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233710
Microscopic Polyangiitis	Episcleritis, Gastrointestinal hemorrhage, Increased inflammatory response, Sinusitis, Pericardit...	ORPHA:727
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
48,Xxyy Syndrome	Abnormal repetitive mannerisms, Abnormal dental enamel morphology, Open bite, Cryptorchidism, Obe...	ORPHA:10
C1Q Deficiency 3	Discoid lupus rash, Recurrent bacterial meningitis	OMIM:620322
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture, Thoracic kyphosis, Short stature	OMIM:270200
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin, Pneumonia	ORPHA:319552
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Premature graying of hair...	OMIM:127550
Osteogenesis Imperfecta, Type Xix	Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Multiple prenatal fractures, V...	OMIM:301014
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Pruritus, Jaundice, Chronic diarrhea, Weight loss, Acholic stools,...	ORPHA:65682
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ...	ORPHA:227990
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Abnormal pulmonary ...	OMIM:613101
Shwachman-Diamond Syndrome 1	Respiratory distress, Hepatomegaly, Neonatal respiratory distress, Myocardial necrosis, Small for...	OMIM:260400
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Ja...	ORPHA:540
Zika Virus Disease	Maculopapular exanthema, Skin rash, Pruritus, Thrombocytopenia, Meningitis, Arthritis, Conjunctiv...	ORPHA:448237
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233690
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi...	OMIM:601198
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Hyperactive renin-angioten...	OMIM:214700
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Mild short stature, High palate, Dental malocclusion	OMIM:618292
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Myasthenia Gravis	Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, ...	ORPHA:589
Vein Of Galen Aneurysmal Malformation	Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:1053
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal dental en...	ORPHA:2325
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia,...	OMIM:304790
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk...	ORPHA:227982
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo...	OMIM:231100
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Carious teeth, Scarring alopecia of scalp, Nail dystrophy, Dystrophic fingern...	OMIM:619787
Giant Cell Arteritis	Glossitis, Pericarditis, Alopecia, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, C...	ORPHA:397
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Splenomegaly, Thrombocytopenia, Cardiomyopathy, Neutropenia, ...	ORPHA:79312
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Gitelman Syndrome	Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Hypomagnesemia, Ventricul...	OMIM:263800
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla...	OMIM:259440
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Neutropenia, Oral ulcer, Gingi...	ORPHA:486
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,...	OMIM:618394
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis...	OMIM:618204
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth, Short stature	OMIM:616108
Chilblain Lupus 2	Chilblains	OMIM:614415
Shigellosis	Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, Conjunctivi...	ORPHA:810
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ...	ORPHA:533
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Systemic Sclerosis	Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux, Abnormal small intes...	ORPHA:90291
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Cataract, Reduced systolic function, Failure to thrive in infancy, Microcytic anemi...	OMIM:618805
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin...	OMIM:219080
Atkin-Flaitz Syndrome	Short stature, Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip v...	ORPHA:1193
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Abnormal r...	ORPHA:213
Syndromic Diarrhea	Villous atrophy, Brittle hair, Bicuspid aortic valve, Bloody diarrhea, Abnormality of the liver, ...	ORPHA:84064
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Telangiectasia of the skin, Abnormal pericardium...	ORPHA:679
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Patent foramen ova...	ORPHA:391487
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Splenomegaly, Jaund...	ORPHA:905
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:306400
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas...	OMIM:615954
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Corneal opacity, Cach...	ORPHA:2072
Familial Mediterranean Fever	Acute hepatic failure, Myocardial infarction, Osteoarthritis, Gastrointestinal infarctions, Pancr...	ORPHA:342
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco...	ORPHA:247806
Moyamoya Disease 5	Ascending tubular aorta aneurysm, Moyamoya phenomenon	OMIM:614042
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myeloid leukemia	ORPHA:48104
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hypothyroidi...	OMIM:615846
Drug-Induced Lupus Erythematosus	Pericarditis, Pericardial effusion, Thrombocytopenia, Dyspnea, Prolonged QTc interval, Malar rash...	ORPHA:231111
Congenital Pancreatic Cyst	Jaundice, Vomiting, Pancreatitis	ORPHA:313906
Juvenile Dermatomyositis	Bundle branch block, Myositis, Cough, Calcinosis, Alopecia, Vasculitis, Cardiomyopathy, Restricti...	ORPHA:93672
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count,...	ORPHA:3261
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Seckel Syndrome 5	Short stature, Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palate, Oligodontia,...	OMIM:613823
Cockayne Syndrome Type 2	Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Kyphosis, Hypoplasia of the p...	ORPHA:90322
Juvenile Temporal Arteritis	Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia	ORPHA:26137
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Dyspnea, Imbalanced hemoglo...	ORPHA:99867
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Type 1 Diabetes Mellitus	Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia, Polyphagia	OMIM:222100
Mucopolysaccharidosis Type 4	Short stature, Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Gr...	ORPHA:582
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Increased intraabdominal fat, Glucose intolerance, High palate, Sp...	ORPHA:2457
Immunodeficiency 22	Pericarditis, Abscess, Thrombocytopenia, Diarrhea, Recurrent upper respiratory tract infections, ...	OMIM:615758
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Vasculitis, Uveitis...	ORPHA:575
Kawasaki Disease	Abnormality of nail color, Conjunctivitis, Cholecystitis, Recurrent pharyngitis, Leukocytosis, Va...	ORPHA:2331
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi...	ORPHA:289390
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Short stature, Hypodontia, Nail dystrophy, Dysphagia, Enamel hypoplasia	OMIM:616029
Alopecia Antibody Deficiency	Abnormality of dental color, Short stature, Abnormal eyelash morphology, Sparse hair, Sparse body...	ORPHA:1006
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Dehydration, Increa...	ORPHA:168558
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Recurrent herpes, Herpes simplex encephalitis	OMIM:610551
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Osteopenia, Short stature, Postnatal growth retardation, Fasting hyper...	OMIM:619489
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Alopecia, Vasc...	ORPHA:50918
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border, Sparse lateral eyebrow	ORPHA:363523
Myositis	Myositis	OMIM:160750
Blepharophimosis-Impaired Intellectual Development Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Widely spaced teeth, Micro...	OMIM:619293
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Alopecia, Stomatitis, Short stature, Postnatal growth retardation, Osteoporosi...	OMIM:212750
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Severe short stature, Lipoatrophy, Micrognathia, Open bite, Carious teeth...	ORPHA:2617
Melioidosis	Shock, Foot osteomyelitis, Unusual skin infection, Liver abscess, Lung abscess, Pneumonia, Brain ...	ORPHA:31202
Granulomatosis With Polyangiitis	Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Vasculitis, Chronic pulmona...	ORPHA:900
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers...	ORPHA:358
Braddock-Carey Syndrome 1	Curly hair, Hyperlordosis, Pierre-Robin sequence, Cleft palate, Growth delay, Everted lower lip v...	OMIM:619980
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren...	OMIM:613493
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir...	OMIM:300971
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac...	OMIM:613849
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure	ORPHA:60
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Pseudo-Torch Syndrome 3	Apnea, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Respiratory insufficiency,...	OMIM:618886
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Conjun...	OMIM:612692
Griscelli Syndrome	Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog...	ORPHA:381
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Short neck, Synophrys, Low anterior hairline, Downturned corners of mouth, Oligodon...	ORPHA:391408
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	Herpes simplex encephalitis	OMIM:616532
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Villous atrophy, Skin rash, Failure to thrive, Diffuse alveolar hemorrhage, Feeding...	OMIM:616050
Central Diabetes Insipidus	Hyponatremia, Anorexia, Dehydration, Polydipsia, Diabetes insipidus, Nocturia	ORPHA:178029
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Abnormal renal tubular reso...	ORPHA:73224
Lymphoid Interstitial Pneumonia	Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia	OMIM:247610
Dietary Iron Overload Disease	Viral hepatitis, Hepatic steatosis, Hepatomegaly, Chronic infection, Congestive heart failure, Pe...	ORPHA:139507
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Unusual skin infection, Increased red blood cell count, Sinusitis, Pneumonia...	ORPHA:68
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Cleft soft palate, Pure red cell aplasia, Myel...	ORPHA:124
Liddle Syndrome	Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Recurrent viral infections, Secretory diarrhea, Elevated gam...	OMIM:619573
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Tricho-Dento-Osseous Syndrome	Abnormal hair quantity, Dental enamel pits, Increased bone mineral density, Periapical tooth absc...	ORPHA:3352
Mandibuloacral Dysplasia With Type B Lipodystrophy	Brittle hair, Dental crowding, Micrognathia, Flexion contracture, Glucose intolerance, High palat...	OMIM:608612
Oculoskeletodental Syndrome	Short stature, Abnormality of the dentition, Hyperlordosis, Abnormality of the frontal hairline, ...	ORPHA:557003
Familial Afibrinogenemia	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding	ORPHA:98880
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Decreased response to growth...	OMIM:216550
Schaaf-Yang Syndrome	Mandibular prognathia, Abnormality of the philtrum, Failure to thrive in infancy, Impulsivity, Sh...	OMIM:615547
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting	OMIM:613743
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthritis, Constrictive pericarditis	OMIM:208250
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Diarrhea,...	OMIM:209950
Visceral Myopathy 2	Necrotizing enterocolitis, Intestinal obstruction, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran...	ORPHA:464343
Immunodeficiency With Hyper-Igm, Type 1	Neutropenia, Meningitis, Hepatomegaly, Hemolytic anemia, Hepatitis, Chronic hepatitis, Chronic or...	OMIM:308230
Myopathy, Myofibrillar, 8	Tall stature, Micrognathia, Spinal rigidity, Distal joint laxity, Achilles tendon contracture, De...	OMIM:617258
Chylous Ascites	Abnormal intestine morphology, Pancreatitis	ORPHA:1160
Idiopathic Congenital Hypothyroidism	Hypothermia, Facial edema, Elevated circulating thyroid-stimulating hormone concentration, Increa...	ORPHA:95717
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy...	ORPHA:95716
Snijders Blok-Campeau Syndrome	Joint laxity, Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Attention deficit h...	OMIM:618205
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver, Infectious encephalitis	ORPHA:205
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ...	ORPHA:44890
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Knee osteoarthritis, Mitral valve prolapse, Mitral...	ORPHA:2848
Seckel Syndrome 1	Pancytopenia, Hyperactivity, Dental crowding, Selective tooth agenesis, Proportionate short statu...	OMIM:210600
Gm1 Gangliosidosis	Decreased beta-galactosidase activity, Gastroesophageal reflux, Aspiration pneumonia, Cherry red ...	ORPHA:354
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Short stature, Narrow mouth, Cryptorchidism, Cleft palate, Thin vermilion border, ...	OMIM:615502
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, C...	ORPHA:276
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Abnormal eyebrow morphology, Short stature, Decreased fertility, Hypod...	ORPHA:1816
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R...	OMIM:277440
Carcinoid Syndrome	Elevated hepatic transaminase, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Ri...	ORPHA:100093
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Splenomegaly, Jaundice, Thr...	OMIM:603553
Short Syndrome	Delayed eruption of teeth, Joint laxity, Inguinal hernia, Lipodystrophy, Lipoatrophy, Small for g...	OMIM:269880
Bone Marrow Failure Syndrome 3	Aplastic anemia, Micrognathia, Oral ulcer, Reduced bone mineral density, Downturned corners of mo...	OMIM:617052
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Limitation of joint mobility, Pathologic fracture, Abnormal cortical bone morpholo...	ORPHA:166277
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
Acrootoocular Syndrome	Delayed eruption of teeth, Small for gestational age, Decreased response to growth hormone stimul...	ORPHA:2980
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent skin infections, Malabsorption, Recurrent upper respiratory tract infecti...	OMIM:233600
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ...	ORPHA:254516
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Diarrhea,...	ORPHA:29207
Cerebral Arteriovenous Malformation	Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:46724
Relapsing Polychondritis	Large vessel vasculitis, Uveitis, Anteriorly placed anus, Conjunctivitis, Cough, Chondritis, Alop...	ORPHA:728
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Neoplasm of the skeletal system, Abdominal pain, Rectal prolapse, Neoplasm of the ...	ORPHA:424019
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,...	OMIM:619477
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Increased T ce...	ORPHA:263665
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Sparse hair, Microdontia, Short stature,...	OMIM:190350
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Skin rash, Failure to thrive in infancy, Hepatomegaly	OMIM:619175
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Alopecia, Cataract, Cachexia, Malabsorption, Splenomegaly, Di...	ORPHA:2930
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Facial edema, ...	ORPHA:319213
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair, Dental crowding, Joint hypermobility, Oral-pharyngeal dysphagia, Joint stiffness, P...	OMIM:619184
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Joint laxity, Inguinal hernia, Ovoid vertebral bodies, Grayish enamel, Car...	OMIM:253000
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Lymphopenia, Persistent CMV viremia, Autoimmune thr...	OMIM:617514
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Elevated cir...	OMIM:101800
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonar...	ORPHA:3260
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hemolytic anemia, Acute pancreatitis, Pericarditis, Hepatic steato...	OMIM:619487
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p...	OMIM:618131
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Mem...	OMIM:618999
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Coarse hair, Pa...	OMIM:613573
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Sacral dimple, Short stature, Camptodactyly of finger, Highly arched eyebr...	ORPHA:1327
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial pneumonitis, Vomitin...	ORPHA:454831
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Alopecia, Short stature, Recurrent fractures, Kyphoscoli...	OMIM:163200
Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga...	ORPHA:733
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal lung morphology, Tubulointerstitial nephritis, Cholecystitis, Sialadeniti...	ORPHA:449395
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Recurrent herpes, Pneumonia, Eczema, Decreased CD4:CD8 ratio,...	OMIM:607271
Familial Adenomatous Polyposis 1	Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis...	OMIM:175100
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Short stature, Accessory oral frenulum, Flexion contracture, Osteolysis involving bones...	ORPHA:88630
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619386
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Centrifugal Lipodystrophy	Alopecia, Lymphadenitis, Inflammatory abnormality of the skin	ORPHA:90156
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Xerostomia, Oliguria, ...	ORPHA:220393
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he...	ORPHA:98878
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial h...	OMIM:616299
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Poikiloderma With Neutropenia	Skin rash, Sparse eyebrow, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pneumon...	OMIM:604173
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Micrognathia, Hemivertebrae, Radioulnar synostosis, Hypodontia...	OMIM:212780
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increas...	OMIM:614450
Renal Hypoplasia	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ...	ORPHA:93101
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis, Respiratory insufficiency, Dysphagia	OMIM:618230
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Na...	OMIM:618806
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Mildly elevated creatine kinase, Dysphagia	OMIM:620265
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart fail...	ORPHA:1194
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph...	ORPHA:277
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Diar...	OMIM:249100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
L-2-Hydroxyglutaric Aciduria	Infectious encephalitis	ORPHA:79314
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Hepato...	OMIM:619126
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med...	ORPHA:572
Propionic Acidemia	Hepatomegaly, Pancytopenia, Apnea, Eczema, Thrombocytopenia, Cerebellar hemorrhage, Tachypnea, Ca...	OMIM:606054
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Carious teeth, Yellow nails, Conical incisor, Nail dystrophy, Enamel hypoplasia, Sparse...	OMIM:614564
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Herpes simplex encephalitis, Meningitis	OMIM:617900
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Cough, Dyspnea, Abnormal lung mor...	ORPHA:50251
Gaisböck Syndrome	Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Hypovolemia, Ele...	ORPHA:90041
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Three M Syndrome 2	Delayed eruption of teeth, Lumbar hyperlordosis, Small for gestational age, Short stature, Severe...	OMIM:612921
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter...	OMIM:114500
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Short stature, Hydrocele testis, Notched primary central incisor, High anterio...	OMIM:620062
Heimler Syndrome 1	Beau's lines, Enamel hypoplasia, Leukonychia, Amelogenesis imperfecta	OMIM:234580
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, C...	OMIM:613490
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ...	OMIM:243150
Congenital Gerbode Defect	Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog...	ORPHA:99095
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi...	OMIM:300853
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Hypotension, Cough, Infectious encephalitis	ORPHA:99825
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h...	OMIM:602483
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Conical tooth, Thrombocytopenia, Hirsutism, Neut...	OMIM:617475
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Short stature, Open bite, Dental malocclusion,...	ORPHA:3079
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Lymphadenitis, Abnormal lung morphology, Dyspnea, Dysphagia, Nephritis, ...	ORPHA:449427
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Short stature, Short neck, Diastema, Micrognathia, Dental malocclusion, Malar flattening	ORPHA:436245
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth ...	OMIM:264700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Lymphoid Interstitial Pneumonia	Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Raynaud phenomenon, Medi...	ORPHA:79128
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Short stature, Osteomalacia, Postnatal growth retardation, Delayed epi...	ORPHA:289157
Cranioectodermal Dysplasia	Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis, Abnormality of the dentition, Os...	ORPHA:1515
Familial Partial Lipodystrophy, Köbberling Type	Hypertension, Hepatic steatosis, Pancreatitis, Hepatomegaly	ORPHA:79084
Verrucous Hemangioma	Inflammatory abnormality of the skin	ORPHA:464318
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino...	ORPHA:293173
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Metaphyseal Chondrodysplasia, Spahr Type	Hyperlordosis, Carious teeth, Abnormality of the dentition, Disproportionate short stature, Reduc...	ORPHA:2501
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Chronic diarrhea, Diarrhea, H...	OMIM:260920
Fanconi Anemia, Complementation Group S	Macrodontia, Short stature, Dental malocclusion, Low anterior hairline, Narrow palate, Long eyela...	OMIM:617883
Momo Syndrome	Delayed eruption of teeth, Tall stature, Short stature, Large for gestational age, Abnormality of...	ORPHA:2563
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, S...	OMIM:613812
Muckle-Wells Syndrome	Maculopapular exanthema, Leukocytosis, Conjunctivitis, Recurrent aphthous stomatitis, Conjunctiva...	OMIM:191900
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Wolfram Syndrome	Gastrointestinal hemorrhage, Central apnea, Recurrent urinary tract infections, Malabsorption, Ab...	ORPHA:3463
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:49041
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Meningitis, Lymphadenopathy, Leukopenia, ...	OMIM:267700
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Recu...	ORPHA:1572
Ciliary Dyskinesia, Primary, 44	Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:618781
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima...	OMIM:615830
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Pancytopenia, Short stature, Malar flattening, Micrognathia, Abnormality of the dentition, Crypto...	ORPHA:85321
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Joint contracture, High palate, Scoliosis	OMIM:611225
Sjögren-Larsson Syndrome	Short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Scoliosis	ORPHA:816
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Flexion contracture, Gastroesophageal reflux, Muscle fiber atrophy, Aspiration, Hypoven...	ORPHA:258
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Esophagitis, Eosinophilic, 2	Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive	OMIM:610247
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Diarrhea, Chronic diarrhe...	OMIM:614602
Muscular Hypertonia, Lethal	Respiratory distress, Umbilical hernia, Pneumonia	OMIM:254120
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Growth delay, Atrophic scars, Na...	ORPHA:79410
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatic steatosis, Necrotizing enterocolitis, Hepatomegaly, Exercise-induced rhabdomyolysis, Sudd...	OMIM:201475
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Joint laxity, Slender build, Short stature, Aggressive behavior, Kyphosis,...	ORPHA:364028
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Osteoglosphonic Dysplasia	Inguinal hernia, Severe short stature, Failure to thrive in infancy, Rhizomelia, Craniosynostosis...	ORPHA:2645
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Leukocytosis, Weight loss,...	ORPHA:764
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Vasculitis, Weight loss, ...	ORPHA:324964
Hall-Riggs Syndrome	Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Thick hair, Joint st...	ORPHA:2107
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea,...	ORPHA:33355
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti...	ORPHA:2222
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Immunodeficiency 83, Susceptibility To Viral Infections	Herpes simplex encephalitis, Meningitis	OMIM:613002
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Hyperglycemia, Prema...	OMIM:248370
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Diarrhea, Intrah...	OMIM:607765
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f...	ORPHA:330021
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Oral mucosal blisters, Flexion contracture, Corneal scarring, Dysphagia, Growth delay, ...	OMIM:226600
48,Xxxy Syndrome	Mandibular prognathia, Short neck, Abnormal dental enamel morphology, Open bite, Cryptorchidism, ...	ORPHA:96263
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Small for gestational age, Hypoglycemia, Short stature, Precocious puberty...	OMIM:262190
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E...	ORPHA:228308
Trisomy 4P	Smooth philtrum, Thick eyebrow, Short stature, Camptodactyly of finger, Abnormal hair pattern, Ab...	ORPHA:1738
2Q23.1 Microdeletion Syndrome	Hyperactivity, Tented upper lip vermilion, Macrodontia, Short stature, Highly arched eyebrow, Cry...	ORPHA:228402
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, L...	OMIM:602450
Arterial Tortuosity Syndrome	Respiratory distress, Myocardial infarction, Gastroesophageal reflux, Hiatus hernia, Pulmonary ar...	ORPHA:3342
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Decreased urinar...	ORPHA:85138
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Decreased muscle mass, ...	ORPHA:298
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, ...	ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Congestive heart failure, Abnormality ...	ORPHA:79083
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Viral encephalitis	OMIM:619441
Cocaine Intoxication	Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:90068
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Cryptorchidism, Synophrys, Downturned corners of mouth, Wide mouth, Eve...	OMIM:618067
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr...	ORPHA:47159
Immunodeficiency 56	Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin...	OMIM:615207
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Vomiting, Hepatomegaly, Scapular winging, Cardiorespiratory arrest, Card...	ORPHA:26791
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia, Hypogonadotropic hypogonadism, Limb joint contract...	OMIM:612079
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp...	OMIM:611489
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Hypothermia,...	ORPHA:31826
Naegeli-Franceschetti-Jadassohn Syndrome	Decreased number of sweat glands, Abnormal dental morphology, Interphalangeal joint contracture o...	ORPHA:69087
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Acute Monoblastic/Monocytic Leukemia	Periorbital edema, Oliguria, Anorexia, Central hypothyroidism	ORPHA:514
Ck Syndrome	Hyperactivity, Dental crowding, Micrognathia, Aggressive behavior, Hyperlordosis, Kyphosis, High ...	OMIM:300831
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Diarrhea, Leukocytosis, BCGosis, Hepatosplenomegaly, Throm...	OMIM:618963
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ...	ORPHA:565612
Dermatomyositis	Abnormal hair quantity, Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morph...	ORPHA:221
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Growth delay, Atrophic scars, Nail dystrophy, Enamel hypopl...	ORPHA:79409
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp...	OMIM:618314
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Hyperactivity, Small for gestational age, Hypoglycemia, Short stature,...	ORPHA:73272
Poliomyelitis	Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Lower limb muscle we...	ORPHA:2912
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Feeding difficulties in infancy, Vomiting, Gastroesophageal reflux, Nausea, Eosinophilic infiltra...	ORPHA:411696
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Thick eyebrow, Abnormality of the dentition, Synophrys, Gingival fibro...	ORPHA:2026
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Joint laxity, Inguinal hernia, Ovoid vertebral bodies, Grayish enamel, Car...	OMIM:253010
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Thick eyebrow, Joint hypermobility, Carious teeth, Overweight, Widow's...	OMIM:619229
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatic steatosis, Pericarditis, Villous atrophy, Hepatomegaly, Pe...	OMIM:212065
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Low anter...	ORPHA:329178
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Cou...	ORPHA:228123
Odontochondrodysplasia	Delayed eruption of teeth, Short stature, Joint hyperflexibility, Platyspondyly, Scoliosis, Retro...	ORPHA:166272
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased urine succinate level, Congestive heart failure, Decreased plasma free carnitine, Brady...	OMIM:619048
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu...	ORPHA:1782
Obesity Due To Melanocortin 4 Receptor Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II diabetes mellitus, Child...	ORPHA:71529
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Diabetes mellitus, Edema, Myocarditis, Pancreatitis, Hyperkalemia, Oliguria...	ORPHA:544482
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Short stature, Recurrent fractures, Kyphoscoliosis, Osteoporosis,...	OMIM:614856
Scarf Syndrome	Inguinal hernia, Craniosynostosis, Short neck, Cryptorchidism, Abnormal form of the vertebral bod...	ORPHA:3134
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Camptoda...	OMIM:618761
Hamamy Syndrome	Osteopenia, Micrognathia, Microcytic anemia, High palate, Sparse hair, Abnormal number of hair wh...	OMIM:611174
Lassa Fever	Shock, Facial edema, Oliguria, Dysphagia	ORPHA:99824
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Respiratory insufficiency, Cardiomyopathy, Leu...	ORPHA:27
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ...	ORPHA:70578
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Meningitis, Hypereosinophilia...	OMIM:212050
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Scarring alopecia of scalp, Foll...	OMIM:612843
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Dehydration, Premature adrenarche, Hypo...	ORPHA:90794
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Rigid Spine Syndrome	Skeletal muscle atrophy, Hip contracture, Pneumonia, Cardiac conduction abnormality, Abnormality ...	ORPHA:97244
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Recurrent fractures, Kyphoscoliosis, Vertebral wedging, ...	OMIM:610968
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Folli...	OMIM:308800
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pruritus, Intermittent jaundice, P...	OMIM:243300
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ...	OMIM:202400
Lyme Disease	Meningitis, Atrioventricular block, Uveitis, Arthritis, Arrhythmia, Infectious encephalitis	ORPHA:91546
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Severe shor...	ORPHA:3163
Neuroleptic Malignant Syndrome	Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Deh...	ORPHA:94093
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ...	ORPHA:330001
Harrod Syndrome	Kyphosis, Cryptorchidism, Dental malocclusion, Joint hyperflexibility, High palate, Scoliosis, Na...	ORPHA:2115
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ...	OMIM:618729
Lipase Deficiency, Combined	Pancreatitis	OMIM:246650
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Increased ci...	OMIM:201810
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Xeros...	ORPHA:79078
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Short stature, Sparse eyelashes, Sparse eyebrow, Bilateral cleft lip an...	OMIM:618874
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Short stature, C...	OMIM:129400
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Feeding difficulties in infancy, Increased T cell count, Chronic diarrhea, Chronic mucocu...	ORPHA:98813
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Sacral dimple, Dental crowding, Cleft soft palate, Kyphoscoliosis, Micr...	OMIM:616331
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, H...	OMIM:269200
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Pancreatitis	OMIM:620137
Cach Syndrome	Cataract, Flexion contracture, Hepatosplenomegaly, Optic neuritis, Vomiting, Dysphagia, Arthrogry...	ORPHA:135
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Short stature, Joint hyperflexibility, Hypodontia, Hip osteoarthritis	ORPHA:63442
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi...	OMIM:601957
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali...	ORPHA:2889
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Short stature, Short neck, Osteoporosis, ...	OMIM:616033
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardation, Dental maloccl...	OMIM:608940
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal dental morphology, Premature loss of primary teeth, Abnormal hair morphology, ...	ORPHA:248
Trichodentoosseous Syndrome	Increased bone mineral density, Abnormal hair morphology, Taurodontia, Widely spaced teeth, Micro...	OMIM:190320
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Short stature, Highly arched eyebrow, Abnormality of the dentition, Short neck, Low anterior hair...	OMIM:615802
14Q11.2 Microduplication Syndrome	Exaggerated cupid's bow, Highly arched eyebrow, Aggressive behavior, Micrognathia, Polyphagia, Ob...	ORPHA:261229
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Sepsis In Premature Infants	Tachycardia, Elevated circulating C-reactive protein concentration, Edema, Oliguria, Bradycardia,...	ORPHA:90051
Cri-Du-Chat Syndrome	Short neck, Orofacial cleft, Downturned corners of mouth, Premature graying of hair, High palate,...	OMIM:123450
Stevens-Johnson Syndrome	Acute hepatic failure, Myocardial infarction, Abnormality of neutrophils, Conjunctivitis, Cough, ...	ORPHA:36426
Muenke Syndrome	Capitate-hamate fusion, Dental malocclusion, Low anterior hairline, High palate, Attention defici...	OMIM:602849
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Cleft palate, Intrauterine growth retardation	OMIM:600252
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Acute Lung Injury	Respiratory distress, Shock, Increased circulating interleukin 6 concentration, Acute pancreatiti...	ORPHA:178320
Biotinidase Deficiency	Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Splen...	OMIM:253260
Omenn Syndrome	Hepatomegaly, Alopecia, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Chronic di...	ORPHA:39041
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ...	ORPHA:69663
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r...	OMIM:612444
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia, Malar prominence, Micrognat...	ORPHA:48431
Young Syndrome	Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec...	OMIM:279000
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Respi...	ORPHA:2686
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h...	ORPHA:331
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chro...	OMIM:619858
Larsen-Like Syndrome	Joint laxity, Short stature, Kyphoscoliosis, Dental malocclusion, Cleft palate, Malar flattening	OMIM:608545
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, Conjunctiviti...	ORPHA:99827
Pachydermoperiostosis	Gastrointestinal hemorrhage, Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Acne, Peptic ul...	ORPHA:2796
Cystic Fibrosis	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H...	OMIM:219700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis, Anemia	ORPHA:289916
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Downslanted palpebral fissures, Aspiration pneumonia	OMIM:609528
Ochoa Syndrome	Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration ...	OMIM:243700
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Hyperhidrosis, Arthritis, Gastric ulcer, Ptosis	OMIM:161700
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ...	ORPHA:439232
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,...	OMIM:226990
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ...	ORPHA:3299
Panhypophysitis	Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Polydipsia, Reduced ...	ORPHA:95513
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Toxic Epidermal Necrolysis	Respiratory distress, Acute hepatic failure, Intestinal perforation, Conjunctivitis, Cough, Neutr...	ORPHA:537
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis...	ORPHA:494424
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Short neck, Generalized joint laxity, High palate, Sho...	ORPHA:251028
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Short stature, Sparse eyelashes, Micrognathia, Hypopl...	OMIM:257850
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Ragged-red ...	OMIM:613662
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv...	ORPHA:2025
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Hypertriglyce...	ORPHA:567548
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Micrognathia, High palate, Short philtrum, Abnormal repetitive mannerisms, Hyper...	OMIM:618342
Trichodental Dysplasia	Brittle hair, Odontodysplasia, Slow-growing hair, Conical tooth, Fine hair, Hypodontia, Sparse hair	OMIM:601453
Mccune-Albright Syndrome	Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Abnormal facial skeleton...	ORPHA:562
Cole-Carpenter Syndrome 1	Osteopenia, Short stature, Recurrent fractures, Micrognathia, Vertebral compression fracture, Red...	OMIM:112240
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Short stature, Abnormal dental enamel morpholog...	ORPHA:96264
Pseudohypoaldosteronism Type 2	Growth delay, Short stature, Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:613239
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Tubulointerstitial nephritis, Cardiomy...	OMIM:251000
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ...	ORPHA:157798
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Megacystis, Hypertonic dehydration, Polydipsia, Hypernatremia, Diabetes insipidus	OMIM:304800
Weismann-Netter Syndrome	Severe short stature, Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis...	OMIM:112350
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Xfe Progeroid Syndrome	Severe short stature, Premature ovarian insufficiency, Cachexia, Absence of subcutaneous fat, Cor...	OMIM:610965
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Recurrent pneumonia, Vasculitis, Decreased mean platelet volume, Bloody diarrhea, Hema...	OMIM:617718
Hypothyroidism Due To Tsh Receptor Mutations	Thyroid hypoplasia, Increased circulating thyroglobulin level, Edema, Hypothermia, Goiter, Elevat...	ORPHA:90673
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypertonic dehydration, Polydipsia, Hyperna...	OMIM:125800
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, ...	ORPHA:2238
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Diabetes mellitus...	ORPHA:3220
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor...	ORPHA:90321
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur...	OMIM:239500
Autism Spectrum Disorder Due To Auts2 Deficiency	Micrognathia, Congenital contracture, Short philtrum, Joint contracture of the 5th finger, Compul...	ORPHA:352490
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Proportionate short stature, Precocious puberty, Obesity, Growth delay, Platyspondyly...	OMIM:619269
Fibromuscular Dysplasia, Arterial	Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse...	OMIM:135580
Ovarian Hyperstimulation Syndrome	Increased circulating gonadotropin level, Hypovolemia, Increased serum testosterone level, Capill...	ORPHA:64739
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Pleural ...	ORPHA:542323
Spermatogenic Failure 81	Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R...	OMIM:620277
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Thin upper lip vermilion, Hyperthyroidism, Dental crowding, Short mandibular rami, ...	OMIM:170390
Hypotonia-Cystinuria Syndrome	Growth delay, Failure to thrive, Retrognathia, Polyphagia	ORPHA:163690
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the max...	ORPHA:2409
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Short stature, Decreased response to g...	ORPHA:94089
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Aggressive behavior, Short neck, Synophrys, Obesity, Narrow palate, Hypoplasia of t...	OMIM:620250
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder	OMIM:617182
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Elevated hepatic transaminase, Alopecia, Conjunctivitis, Elevated gamma-glutamyltran...	OMIM:242150
Idiopathic Camptocormia	Myositis, Fatty replacement of skeletal muscle, Osteoarthritis, Abnormal muscle fiber dysferlin, ...	ORPHA:1320
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Odontochondrodysplasia 1	Delayed eruption of teeth, Biconvex vertebral bodies, Short stature, Osteoporosis, Coronal cleft ...	OMIM:184260
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Leukocytosis, Lymphadeno...	ORPHA:98849
Immunodeficiency 31C	Skeletal muscle atrophy, Villous atrophy, Protein-losing enteropathy, Cough, Disseminated histopl...	OMIM:614162
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Brittle hair, Short stature, Hypoplasia of the maxilla, Carious teeth,...	ORPHA:50814
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, High palate, Premature l...	OMIM:102500
Hartnup Disease	Skin rash, Infectious encephalitis, Glossitis, Malabsorption	ORPHA:2116
Winchester Syndrome	Kyphosis, Hirsutism, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, G...	OMIM:277950
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Mediastinal lymphadenopathy, Splenome...	ORPHA:91138
Acrodermatitis Enteropathica	Glossitis, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Pustule, Malabsorpt...	ORPHA:37
Flynn-Aird Syndrome	Alopecia, Cachexia, Joint stiffness, Abnormality of the thyroid gland, Carious teeth, Kyphosis, B...	ORPHA:2047
Zimmermann-Laband Syndrome	Thick eyebrow, Micrognathia, Short neck, Splenomegaly, Supernumerary tooth, Gingival fibromatosis...	ORPHA:3473
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Colitis, Esophageal stenosis	OMIM:615190
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg...	OMIM:619220
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Dyspnea,...	OMIM:612387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea...	ORPHA:2137
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Short stature, Micr...	ORPHA:363417
Flynn-Aird Syndrome	Increased bone mineral density, Alopecia, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteopo...	OMIM:136300
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp...	ORPHA:2916
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ...	ORPHA:90790
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym...	ORPHA:83469
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Increased bone mineral density, Hypergonadotropic hypogonadism, Decrea...	ORPHA:79444
Lichen Planopilaris	Alopecia, Pruritus, Hepatitis, Abnormal intestine morphology, Pterygium	ORPHA:525
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ...	ORPHA:379
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Beaking of vertebral bodies, C...	ORPHA:137834
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia...	ORPHA:2688
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d...	ORPHA:324575
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Anoperinea...	OMIM:613960
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Neutropenia, Lympho...	OMIM:300988
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehy...	ORPHA:173
Dysostosis, Stanescu Type	Increased bone mineral density, Short stature, Abnormal dental enamel morphology, Abnormality of ...	ORPHA:1798
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetalis, Micropenis, Bradycardia, Hy...	OMIM:618815
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Alopecia, Erythrodontia, Short stature, Absent eyebrow, Splenomegal...	OMIM:263700
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Wolman Disease	Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Adrenal insuffici...	ORPHA:75233
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Neutrope...	OMIM:601495
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177901
Mahvash Disease	Recurrent pancreatitis, Palpitations, Pancreatic alpha-cell hyperplasia	OMIM:619290
Arteriosclerosis, Severe Juvenile	Central fundal arteriolar microaneurysms, Myocardial infarction, Central retinal vessel vascular ...	OMIM:208060
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Thin upper lip vermilion, Dental crowding, Short stature, Synophrys, Pierre-Robin seq...	OMIM:617877
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98793
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Cardiac arrest, Elevated circulating creatine kinase concentration, Ventri...	OMIM:212138
Senior-Loken Syndrome 4	Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98754
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Helix Syndrome	Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis,...	OMIM:617671
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Adrenal calcification, Renal salt wasti...	ORPHA:275761
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Cough, Dyspnea, Diarrhe...	ORPHA:319218
Maternal Uniparental Disomy Of Chromosome 9	Kyphoscoliosis, Micrognathia, Short neck, Hamstring contractures, Congenital hypothyroidism, Intr...	ORPHA:96183
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Obesity, T...	OMIM:157980
Holocarboxylase Synthetase Deficiency	Respiratory distress, Alopecia, Eczema, Tachypnea, Keratoconjunctivitis, Weight loss, Thrombocyto...	ORPHA:79242
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Hype...	ORPHA:391
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Timothy Syndrome	Prolonged QT interval, Hypothermia, Ventricular tachycardia, Atrioventricular block, Bradycardia,...	OMIM:601005
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Failure to thrive, Small for gestational age, Kyphoscoliosis, Microgna...	OMIM:214150
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Short stature, M...	ORPHA:2863
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract...	OMIM:613179
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177904
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl...	OMIM:106300
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia, Obesity, Polyphagia, Tall stature	OMIM:618406
Lymphatic Filariasis	Glomerulonephritis, Orchitis, Lymphadenitis, Abnormal lung morphology, Knee osteoarthritis, Epidi...	ORPHA:2035
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Primary hyperparathyroidism, Hypercalciur...	OMIM:239200
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ...	ORPHA:90363
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Mala...	ORPHA:793
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Marburg Hemorrhagic Fever	Nonproductive cough, Odynophagia, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lympho...	ORPHA:99826
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Diarrhea, Abnormal gastroin...	ORPHA:70475
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Macroorchidism, Hypothermia, Goi...	ORPHA:90674
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Failure to thrive in infancy, Porta...	OMIM:613385
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Chilblains, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Aggressive Systemic Mastocytosis	Neutropenia, Maculopapular exanthema, Portal hypertension, Leukocytosis, Hepatosplenomegaly, Lymp...	ORPHA:98850
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Downturned corners of mouth, H...	OMIM:176270
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Severe viral i...	ORPHA:319251
Luscan-Lumish Syndrome	Mandibular prognathia, Short stature, Aggressive behavior, Irregular menstruation, Advanced ossif...	OMIM:616831
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, M...	OMIM:607115
Noonan Syndrome 4	Curly hair, Short stature, Large for gestational age, Short neck, Cryptorchidism, Sparse eyebrow,...	OMIM:610733
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular functio...	OMIM:619991
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Mandibular prognathia, Hyperactivity, Hypopigmentation of hair, Obesity, Wide mouth, Inappropriat...	ORPHA:411515
Laron Syndrome	Delayed eruption of teeth, Severe short stature, Hypoglycemia, Micrognathia, Abnormality of the e...	ORPHA:633
Cln3 Disease	Aggressive behavior, Increased circulating androgen concentration, T-wave inversion, Bradycardia,...	ORPHA:228346
Hypercalcemia, Infantile, 1	Hypercalcemia, Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc...	OMIM:143880
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis, Lip...	OMIM:615947
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Scarring ...	ORPHA:59303
X-Linked Intellectual Disability, Stocco Dos Santos Type	Hyperactivity, Short stature, Small for gestational age, Kyphosis, Increased serum serotonin, Hir...	ORPHA:85288
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis...	OMIM:602562
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,...	ORPHA:181
Familial Cold Urticaria	Pruritus, Arthritis, Conjunctivitis, Hyperhidrosis	ORPHA:47045
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto...	OMIM:620133
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, ...	ORPHA:436252
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis,...	OMIM:617388
Kabuki Syndrome 2	Joint laxity, Natal tooth, Short stature, Highly arched eyebrow, Micrognathia, Postnatal growth r...	OMIM:300867
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ...	ORPHA:477
Plague	Respiratory distress, Chapped lip, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, In...	ORPHA:707
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre...	OMIM:619445
Senior-Boichis Syndrome	Polydipsia, Thickening of the tubular basement membrane, Portal hypertension, Aggressive behavior...	ORPHA:84081
Schimke Immuno-Osseous Dysplasia	Neutropenia, Minimal change glomerulonephritis, Decreased proportion of naive CD8 T cells, Ischem...	ORPHA:1830
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Anhidrosis, Acute kidney injury, Elevated circulating creatine kinase conc...	ORPHA:466650
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Hyperactivity, Small for gestational age, Short stature, Highly arched eyebrow, ...	OMIM:615834
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Generalized Eruptive Keratoacanthoma	Pruritus, Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectr...	ORPHA:411777
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Paternal Uniparental Disomy Of Chromosome 1	Short stature, Abnormal dental enamel morphology, Craniosynostosis, Recurrent fractures, Obesity,...	ORPHA:251004
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Thick hair, Kyphosis, Synophrys, Low posterior h...	ORPHA:2429
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Failure to thrive, Splenomegaly, Growth delay, Intrauterine growth retardation, Ena...	OMIM:614576
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Elevated circ...	OMIM:214900
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Skin rash, Eczema, Abnormal eyelid morphology, Pruritus, Splenomegaly, Ly...	ORPHA:2584
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, ...	OMIM:616294
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Short stature, Kyphosis, Obesity, Oligodontia, Everted lower lip vermilion, Scoliosis, Anodontia	ORPHA:276630
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hyponatremia, Renal insufficiency, Recurrent urinary tract infection...	ORPHA:731
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Pili torti, Hair shafts flattened at irregular intervals and...	OMIM:261900
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Eosinophilia, Craniosynostosis, Persistence of primary teeth, Recurrent fractures, Hi...	OMIM:147060
Osteogenesis Imperfecta, Type Iv	Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral...	OMIM:166220
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insuf...	OMIM:613680
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Aggressive behavior, Dental malocclusion, Attention deficit hyperactivi...	OMIM:619149
Clouston Syndrome	Alopecia, Cataract, Sparse eyelashes, Brittle hair, Alopecia totalis, Slow-growing hair, Sparse e...	OMIM:129500
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, A...	ORPHA:449563
Microlissencephaly	Pneumonia	ORPHA:1083
Takayasu Arteritis	Myocardial infarction, Hyperhidrosis, Gastrointestinal infarctions, Vasculitis, Ascending tubular...	ORPHA:3287
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Cachexia, Cardiomegaly, Dia...	ORPHA:42
Coffin-Siris Syndrome 3	Joint laxity, Sparse scalp hair, Inguinal hernia, Thick eyebrow, Short stature, Central diaphragm...	OMIM:614608
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Birth length greater than 97th percentile, Flexion contracture, Dental malocclusi...	OMIM:310400
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infect...	OMIM:603554
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Distichiasis, Delayed puberty, Anemia	ORPHA:2598
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ...	OMIM:171400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Pulp calcification, Taurodontia, Subperiosteal bone formation, Enamel hypoplasia	OMIM:211900
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, High, narrow palate, High palate, Increased bone mineral de...	OMIM:119600
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Tarsal synostosis, Highly arched eyebrow, Diastema, Deep philtrum, Talon cusp,...	OMIM:605282
6Q16 Microdeletion Syndrome	Micrognathia, Obesity, Abnormal temper tantrums, Retrognathia, Polyphagia, Thick eyebrow	ORPHA:171829
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Short stature, Kyphosis, Tongue fasciculations, Attention deficit hyperactivity disorder, Narrow ...	OMIM:620007
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter	OMIM:188580
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hyperammonemia, Pleural effusion, Bradycardia, Hyperalaninemia, Hypertrophi...	OMIM:614702
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli...	OMIM:618727
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Re...	ORPHA:93941
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:616726
Pediatric-Onset Graves Disease	Hyperactivity, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyr...	ORPHA:525731
Congenital Disorder Of Glycosylation, Type Iih	Epicanthus, Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concent...	OMIM:611182
Enamel-Renal Syndrome	Increased circulating osteocalcin level, Delayed eruption of teeth, Abnormality of dental color, ...	ORPHA:1031
Ane Syndrome	Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog...	ORPHA:157954
Cole-Carpenter Syndrome	Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Recurrent fractures,...	ORPHA:2050
Cerebellofaciodental Syndrome	Short stature, Short neck, Aggressive behavior, Cryptorchidism, Sparse eyebrow, Dental malocclusi...	OMIM:616202
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ...	ORPHA:90340
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Diabetes mellitus, Short stature, Abnormal dental enamel morphology, Kyphoscolios...	OMIM:601701
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	High palate, Atrial septal defect, Alopecia, Bronchiectasis, Methicillin-resistant Staphylococcus...	OMIM:618282
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Hemivertebrae, Obesity, Abnormal form o...	ORPHA:2180
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory...	OMIM:615451
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Recurrent herpes, Generalized lymphadenopathy, Skin ra...	ORPHA:33276
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Aggressive behavior, Wide mout...	OMIM:618825
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Meningococcal Meningitis	Shock, Neonatal respiratory distress, Projectile vomiting, Skin rash, Hypotension, Infectious enc...	ORPHA:33475
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Anhidrosis, Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, ...	ORPHA:169090
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Myelodysplasia, Autoimmune thrombocytopenia, Recurren...	OMIM:608184
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Respiratory ins...	ORPHA:157973
Pauci-Immune Glomerulonephritis	Abnormality of the gastrointestinal tract, Glomerulonephritis, Dyspnea, Crescentic glomerulonephr...	ORPHA:93126
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Dental malocclusion, Diaphysea...	OMIM:259730
Scarf Syndrome	Inguinal hernia, Short neck, Cryptorchidism, Low anterior hairline, Coronal craniosynostosis, Abn...	OMIM:312830
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Iris hypopigmentation, Facial palsy, Cachexia, Respiratory insufficiency...	ORPHA:97229
Heimler Syndrome 2	Beau's lines, Dental crowding, Leukonychia, Amelogenesis imperfecta	OMIM:616617
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Brittle Cornea Syndrome 1	Joint laxity, Atypical scarring of skin, Disproportionate tall stature, Scoliosis, Red hair, Dent...	OMIM:229200
Chromosome Xq26.3 Duplication Syndrome	Tall stature, Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Inc...	OMIM:300942
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Short s...	ORPHA:1458
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Micrognathia, Synophrys, Sparse hair, Dystrophic fingernails, Anodontia, Alopecia, Abnormal denta...	ORPHA:3253
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Short stature, Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia	ORPHA:329249
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Severe short stature, Foot joint contracture, Infancy onset short-trunk short st...	ORPHA:444072
Trichohepatoneurodevelopmental Syndrome	Synophrys, Coarse hair, High palate, Gastroesophageal reflux, Thoracic hypertrichosis, Hypothyroi...	OMIM:618268
Gastrointestinal Stromal Tumor	Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Constipation, Dysphagia	OMIM:606764
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Diabetes...	OMIM:608594
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia...	OMIM:606367
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Lymphedema And Cerebral Arteriovenous Anomaly	Pulmonary arterial hypertension, Abnormal cerebral vascular morphology	OMIM:152900
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Diarrhea, Chronic pulmonary obstru...	ORPHA:411703
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Myocardial infarction, Ectopia lentis, Mitral valve prolapse, High palate, Lens sub...	OMIM:236200
Hyperlysinemia, Type I	Hyperlysinemia, Hyperactivity, Hyperlysinuria	OMIM:238700
Ohdo Syndrome	Joint laxity, Short stature, Micrognathia, Sparse eyebrow, Cryptorchidism, Hypoplasia of teeth, T...	OMIM:249620
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Increased bone mineral density, Hypergonadotropic hypogonadism, Decrea...	ORPHA:79443
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Loss ...	OMIM:216400
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis...	OMIM:615482
Focal Segmental Glomerulosclerosis 1	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:603278
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Skeletal muscle atrophy, Acute hepatic failure, Microvesicular hepatic stea...	OMIM:256810
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Lipodystrophy, Congenital Generalized, Type 2	Mandibular prognathia, Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Lipodyst...	OMIM:269700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia...	ORPHA:276580
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Short stature, Highly arched eyebrow, M...	ORPHA:293967
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Short stature, Kyphoscoliosis, Joint stiffness, Trismus, Vertebral wedging, Platyspon...	OMIM:616583
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom...	OMIM:162000
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Hypertension, Coronary artery athe...	OMIM:608600
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA ...	OMIM:231530
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Renal Tubular Dysgenesis	Anuria, Abnormality of the urinary system, Hypotension, Renotubular dysgenesis, Oligohydramnios	OMIM:267430
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Sparse scalp hair, Distal symphalangism, Precocious puberty, Postnatal growth retardation, Dispro...	OMIM:210720
Qazi-Markouizos Syndrome	High, narrow palate, Cryptorchidism, Hypoplasia of teeth, Delayed ossification of carpal bones, O...	ORPHA:3010
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Congestive heart failure, Oliguria, Heart murmur	ORPHA:1054
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Chronic bronchitis	OMIM:613021
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Dental crowding, Lipodystrophy, ...	OMIM:615381
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion...	ORPHA:666
Schnitzler Syndrome	Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Arthr...	ORPHA:37748
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s...	ORPHA:2357
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Sparse hair, Hyperactiv...	OMIM:234100
Tenorio Syndrome	Mandibular prognathia, Osteopenia, Joint laxity, Hypoglycemia, Wide mouth, Macroglossia, Recurren...	OMIM:616260
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot...	ORPHA:2968
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Cataract, Recurrent skin infections, Ectropion, Corneal erosi...	ORPHA:33001
Leptospirosis	Respiratory distress, First degree atrioventricular block, Uveitis, Cough, Conjunctival hyperemia...	ORPHA:509
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting, Chronic l...	OMIM:616809
Neonatal Alloimmune Neutropenia	Pneumonia, Severe infection, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Meni...	ORPHA:464370
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Vomiting, Hepatic steatosis, Bifid uvula, Hepatomegaly, Elevated circulating aspart...	OMIM:614921
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Flexion contracture, Increased body weight, Downturned corners of mouth, Compulsive b...	ORPHA:398069
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Impulsivity, Micrognathia, Aggressive behavior, Hyperlordosis, Synophry...	ORPHA:73223
Acys Amyloidosis	Stroke, Cerebral hemorrhage	ORPHA:100008
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate...	OMIM:214950
Lysinuric Protein Intolerance	Hepatomegaly, Skeletal muscle atrophy, Nausea, Splenomegaly, Diarrhea, Thrombocytopenia, Intraalv...	OMIM:222700
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Downturned corners of mouth, Premature adrenarche, Hypothalamic luteinizing hormone-r...	ORPHA:398079
Martin-Probst Syndrome	Pancytopenia, Short stature, Malar flattening, Micrognathia, Cryptorchidism, Thick lower lip verm...	OMIM:300519
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Usher Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Decreased fertilit...	ORPHA:886
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Dysmenorrhea, Micrognathia, Premature graying of hair, Increased intraabdominal fat, Advanced eru...	ORPHA:280365
Fetal Akinesia Deformation Sequence 4	Micrognathia, Short neck, Kyphosis, Cryptorchidism, High palate, Camptodactyly, Arthrogryposis mu...	OMIM:618393
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Spina bifida o...	ORPHA:1452
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c...	ORPHA:275555
Spondyloenchondrodysplasia	Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Short stature, Decreased re...	ORPHA:1855
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis	OMIM:301220
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia	OMIM:247800
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Oral mucosal blisters, Atrophic scars, Nail dystrophy, Arthrogryposis multiplex congenita, Enamel...	OMIM:226730
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Parastremmatic Dwarfism	Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis	OMIM:168400
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Bradycardia, Hypothermia	OMIM:614654
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Failure to thrive, Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectas...	OMIM:242860
Raine Syndrome	Mandibular prognathia, Natal tooth, Increased bone mineral density, Short stature, Highly arched ...	OMIM:259775
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky...	OMIM:130060
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Flexion contracture, Leukopenia, Conjunctivitis, Atrial septal defect, Pate...	ORPHA:505248
Aarskog-Scott Syndrome	Delayed eruption of teeth, Inguinal hernia, Short stature, Camptodactyly of finger, Cleft upper l...	ORPHA:915
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Downturned corners of mouth, P...	ORPHA:739
Schwartz-Jampel Syndrome	Micrognathia, Short neck, Low anterior hairline, High palate, Decreased body weight, Wrist flexio...	ORPHA:800
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ...	OMIM:619705
Transketolase Deficiency	Hepatomegaly, Cataract, Ventricular septal defect, Seborrheic dermatitis, Patent ductus arteriosu...	ORPHA:488618
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Short neck, Abnorma...	ORPHA:884
Microvillus Inclusion Disease	Nephrocalcinosis, Hypovolemia, Abnormal renal physiology, Dehydration	ORPHA:2290
3M Syndrome	Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Short neck, Hyperlor...	ORPHA:2616
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ...	ORPHA:411629
Leigh Syndrome	Ptosis, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Failure to thriv...	OMIM:256000
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Upper limb muscle weaknes...	ORPHA:90117
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at...	ORPHA:1876
Indolent Systemic Mastocytosis	Hepatomegaly, Skin rash, Maculopapular exanthema, Pruritus, Splenomegaly, Lymphadenopathy, Increa...	ORPHA:98848
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent...	OMIM:150550
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Intercostal retractions, Abnormal lacrimal sac morphology, Dac...	ORPHA:141083
Immunodeficiency 15B	Monocytosis, Failure to thrive, Reduced natural killer cell count	OMIM:615592
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Hypercalcemia, Testi...	ORPHA:99880
Polyposis Syndrome, Hereditary Mixed, 2	Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol...	OMIM:610069
Renpenning Syndrome	Abnormal hairshaft morphology, Epicanthus, Cataract, Alopecia, Skeletal muscle atrophy, Cachexia,...	ORPHA:3242
Aminoacylase 1 Deficiency	Hyperactivity, Bradycardia	OMIM:609924
Sclerosteosis 1	Mandibular prognathia, Sclerotic scapulae, Dental malocclusion, Irregular menstruation, Facial pa...	OMIM:269500
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi...	ORPHA:465
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Conjunctival icterus, Jaundice, Increased mean corpu...	OMIM:194380
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Iridocyclitis, Distal amyotrophy, Dysphagia, Hypothyroidism, Pancreatitis	ORPHA:412057
Immunodeficiency 102	Severe varicella zoster infection, Leukopenia, Hypothyroidism, Hepatomegaly, Autoimmune thrombocy...	OMIM:301082
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Cataract, Sparse eyelashes, Skeletal muscle atrophy, Sparse eyebrow, Hypo...	OMIM:615704
Ciliary Dyskinesia, Primary, 39	Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp...	OMIM:618254
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased activity of NADPH oxidase, Failure to thrive, Pancreatitis, Aspiration pneumonia	ORPHA:431361
Trichothiodystrophy	Osteopenia, Multiple joint contractures, Brittle hair, High, narrow palate, Thoracic kyphosis, Ne...	ORPHA:33364
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Multiple joint contractures, Chilblains, Neonatal alloim...	ORPHA:51
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Endometriosis, Abnormality of the dentition, Carious teeth, Thin...	ORPHA:363444
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper...	ORPHA:136
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypophosphatemic rickets, Short stature, Hypoplasia of teeth	OMIM:613312
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout...	OMIM:232220
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia	OMIM:606893
Isolated Sedoheptulokinase Deficiency	Diastasis recti, Portal hypertension, Neonatal asphyxia, Flexion contracture, Hepatitis, Cholesta...	ORPHA:440713
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Short stature, Camptodactyly of finger, Carious teeth, Kyphosis, Coarse hair, Joint...	ORPHA:1883
Chikungunya	Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Pruritus, Diarrhea, Crusting ery...	ORPHA:324625
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R...	ORPHA:264675
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Kyphosis, Cryptorchidism, Thi...	OMIM:619797
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Ectropion, H...	ORPHA:101330
Seckel Syndrome	Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Cachexia, Craniosynostosis, ...	ORPHA:808
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Intestinal obstruction, ...	OMIM:600802
Pycnodysostosis	Increased bone mineral density, Short stature, Delayed eruption of primary teeth, Persistence of ...	OMIM:265800
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, High palate, Atrial septal defect, Patent ductus arter...	OMIM:135900
Sanjad-Sakati Syndrome	Hypoparathyroidism, Short stature, Abnormal dental enamel morphology, Patchy osteosclerosis, Micr...	ORPHA:2323
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density...	OMIM:618392
Familial Chylomicronemia Syndrome	Acute pancreatitis, Pulmonary embolism, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent...	ORPHA:444490
Immunodeficiency 7	Hepatomegaly, Recurrent respiratory infections, Autoimmune hemolytic anemia, Splenomegaly, Diarrh...	OMIM:615387
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Sparse scalp hair, Inguinal hernia, Hyperactivity, Short stature, Thic...	OMIM:614607
Obesity Due To Sim1 Deficiency	Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity di...	ORPHA:369873
Bronchial Neuroendocrine Tumor	Abnormal pulmonary valve cusp morphology, Nonproductive cough, Hepatomegaly, Tricuspid regurgitat...	ORPHA:97287
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Osteomyelitis, Cardiac shunt, Pulmonary embolism, Increased pulmonary vas...	ORPHA:70591
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Micropenis, Decreased circulating renin level, Hyponatremia...	OMIM:201750
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Hypercalcemia, Testi...	ORPHA:143
Localized Scleroderma	Fasciitis, Abnormality of the dentition, Flexion contracture, Dental malocclusion, Abnormal facia...	ORPHA:90289
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Dental malocclusion, Elbow ...	ORPHA:2920
4H Leukodystrophy	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decr...	ORPHA:289494
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Pedal edema, Hypertension,...	ORPHA:84090
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hepatic steatosis, Pancreatitis	ORPHA:435651
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c...	OMIM:265000
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Short stature, Micrognathia, Nephrogenic diabetes insipidus, Carious teeth, Supernumerary tooth, ...	ORPHA:3145
Agel Amyloidosis	Tongue atrophy, Cataract, Facial palsy, Pruritus, Bilateral ptosis, Respiratory tract infection, ...	ORPHA:85448
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Torticollis, Pruritus, Jaundice, Weight loss, Increased circulating lac...	ORPHA:370348
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia	OMIM:605899
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Persistent EBV viremia, ...	OMIM:620282
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Cough, Achalasia, Tracheobronchial leiom...	ORPHA:1018
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:300991
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Crypt...	OMIM:614736
Incontinentia Pigmenti	Alopecia, Cataract, Corneal opacity, Skin rash, Supernumerary nipple, Telangiectasia of the skin,...	ORPHA:464
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Episodic hyperhidrosis, Hyperinsulinemia, Decreased circulating free fatty acid leve...	ORPHA:276575
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,...	ORPHA:131
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Dehyd...	ORPHA:90038
Trisomy 18P	Short stature, Highly arched eyebrow, Micrognathia, Bilateral cryptorchidism, High, narrow palate...	ORPHA:1715
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoacidu...	ORPHA:534
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Hepatomegaly, Recurrent urinary tract infections, Recurrent ski...	OMIM:620210
Obesity And Hypopigmentation	Hyperinsulinemia, Obesity, Overgrowth, Red hair, Polyphagia	OMIM:620195
Congenital Generalized Lipodystrophy	Mandibular prognathia, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose t...	ORPHA:528
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Dehydration, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis	OMIM:602722
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal circulating enzyme concentration or activity, Lower limb muscle weakness, Respiratory in...	ORPHA:2590
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ...	ORPHA:99885
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Hyperactivity, Mild postnatal growth retardation, Thyroid lymphangiect...	OMIM:235510
Scorpion Envenomation	Bundle branch block, Tachypnea, Hyperhidrosis, Vomiting, Prominent U wave, Elevated circulating a...	ORPHA:466677
Coffin-Siris Syndrome 8	Ptosis, Sparse scalp hair, Eczema, Long eyelashes, Failure to thrive, Thick eyebrow, Hypertrichosis	OMIM:618362
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Joint laxity, Abnormal dental enamel morphology,...	ORPHA:439822
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivertebrae,...	ORPHA:96121
Cdkl5-Deficiency Disorder	Kyphosis, Deep philtrum, Synophrys, Growth delay, Everted lower lip vermilion, Thick vermilion bo...	ORPHA:505652
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hy...	OMIM:612541
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Ventricular septal defect, Supernumerary nipple, Absent eyelashes, Patent ductu...	OMIM:106260
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Alopeci...	OMIM:215100
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Patchy ...	ORPHA:346
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Short stature, Micrognathia, Short neck, Kyphosis, Obesity, Type II diabetes mel...	ORPHA:3191
Prolidase Deficiency	Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Splenomegaly...	OMIM:170100
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Pruritus, Splenomegaly, Hyperhidrosis, Lymphadenopathy, Weight loss	ORPHA:86893
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Sacral dimple, Tented upper lip vermilion, Joint laxity, Microgn...	OMIM:601390
Brain Small Vessel Disease 2	Intracranial hemorrhage	OMIM:614483
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Neutropenia, Microdontia, Sparse hair, Hypothyroidism, Premature ova...	ORPHA:221008
Wiskott-Aldrich Syndrome	Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Absent micr...	OMIM:301000
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polyposis, P...	OMIM:175500
Postinfectious Vasculitis	Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, U...	ORPHA:48435
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Microcytic anemia, Cardiomegaly, Flexion contracture, Premature graying ...	OMIM:256040
Hypokalemic Periodic Paralysis	Impaired myocardial contractility, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated ...	ORPHA:681
Codas Syndrome	Delayed eruption of teeth, Omphalocele, Short stature, Hypoplasia of the odontoid process, Genera...	OMIM:600373
Sheehan Syndrome	Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating ...	ORPHA:91355
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Secundum atri...	OMIM:614868
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Inguinal hernia, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis,...	OMIM:272460
Nail-Patella Syndrome	Back pain, Lumbar hyperlordosis, Contracture of the distal interphalangeal joint of the fingers, ...	ORPHA:2614
Sarcoidosis	Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Uveitis, ...	ORPHA:797
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Short stature, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone mine...	OMIM:616507
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Widow's peak, Bronchiolitis, Periodontitis, Reduction of neutrophil moti...	OMIM:266265
Phelan-Mcdermid Syndrome	Sacral dimple, Tall stature, Thick eyebrow, Micrognathia, Aggressive behavior, Tongue thrusting, ...	OMIM:606232
Immunodeficiency 92	Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased proportion of cl...	OMIM:619652
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Hypophosphatemic Rickets, X-Linked Dominant	Short stature, Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Spinal canal ste...	OMIM:307800
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Short stature, Abnormal dental enamel morphology, Abn...	ORPHA:96169
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Kyphoscoliosis, Splenomegaly, Hypertrichosis, Macrogl...	OMIM:616354
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells, Lymphoma, Bronchiectasis, Decreased body weight	ORPHA:477814
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Fl...	ORPHA:87503
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Malabsorption, Diarrh...	ORPHA:2070
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Inguinal hernia, Tented upper lip vermilion, Sacral dimple, Join...	OMIM:615546
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, BCGosis, Hepatomegaly, Membranoproliferative glomerulonephritis, Maculopap...	OMIM:619644
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Inguinal hernia, Recurrent fractures, Multiple prenatal fractures, Kyph...	OMIM:610915
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi...	ORPHA:79124
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia, Dysphagia	OMIM:616276
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Diarrhea, Weight loss, Vomiting, Failure to thrive	OMIM:612075
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia	OMIM:614493
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Ventricular septal defect, Eczema, E...	OMIM:616651
Man1B1-Cdg	Thin upper lip vermilion, Joint hypermobility, Long eyebrows, Short neck, Sparse eyebrow, Abnorma...	ORPHA:397941
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:608644
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Neurocutaneous Melanocytosis	Intracranial hemorrhage, Infectious encephalitis, Generalized hirsutism	ORPHA:2481
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Rhizomelia, Kyphoscoliosis, Highly arched eyebrow, Sparse eyebrow, Fle...	ORPHA:263463
Hypercalcemia, Infantile, 2	Hypercalcemia, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Lacrimal Duct Defect	Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele	OMIM:149700
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C...	ORPHA:1164
Perlman Syndrome	Inguinal hernia, Tall stature, Femoral hernia, Micrognathia, High, narrow palate, Cryptorchidism,...	ORPHA:2849
New-Onset Refractory Status Epilepticus	Infectious encephalitis	ORPHA:363558
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Hig...	OMIM:115150
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Fibrocystic lung disease, Pneumonia, Eosinophilia, Recurrent pneumonia, Chron...	OMIM:158310
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Inguinal hernia, Increased mean platelet volume, Highly arched eyebrow,...	OMIM:616737
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pru...	OMIM:613404
Christianson Syndrome	Decreased muscle mass, Cachexia, Gastroesophageal reflux, Dysphagia, Arthrogryposis multiplex con...	ORPHA:85278
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Loss ...	OMIM:133540
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Absent eyelashes, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu...	OMIM:604278
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Oligodontia, Hypodontia, Sp...	OMIM:607626
Acrofacial Dysostosis, Catania Type	Short stature, Carious teeth, Cryptorchidism, Widow's peak, Intrauterine growth retardation, Spin...	OMIM:101805
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bron...	OMIM:242700
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig...	OMIM:219800
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Epicanthus, Telecanthus, Aganglionic megacolon, Abnormal hemoglobin, Recurrent urinary tract infe...	ORPHA:847
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Raynaud phenomenon, Asthma, ...	ORPHA:90280
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Mod...	ORPHA:1005
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven...	OMIM:253700
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Polyphagia, Decreased testicul...	OMIM:614962
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Obesity, Wide mouth, Polyphagia, Self-mutilation	OMIM:616521
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy, Recurrent infections, Gastroesophageal reflux, Decreased body weight, Mal...	OMIM:618097
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Elevated total serum trypt...	ORPHA:157991
Hypotonia-Cystinuria Syndrome	Tented upper lip vermilion, Hypergonadotropic hypogonadism, Decreased response to growth hormone ...	OMIM:606407
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,...	OMIM:618278
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Short st...	ORPHA:97360
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Short stature, Bri...	OMIM:607812
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Short stature, Delayed eruption of primary teeth, Micrognath...	OMIM:619322
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Ventricular septa...	OMIM:208085
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditis, Thrombocyto...	ORPHA:83601
Ichthyosis Hystrix Of Curth-Macklin	Flexion contracture, Recurrent skin infections, Nail dystrophy	ORPHA:79503
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia, Short stature	OMIM:613382
Immunodeficiency 9	Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to thrive, Amelogene...	OMIM:612782
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Cataract, Brittle hair, Trichoschisis, Small for gestational age, Malabso...	OMIM:601675
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Sacral dimple, Short stature, Micrognathia, Short neck, Cleft lip, Kyphosis, Cryptor...	OMIM:616894
Cerebral Visual Impairment	Unusual CNS infection, Intracranial hemorrhage, Ischemic stroke, Meningitis, Infectious encephalitis	ORPHA:447788
Cogan Syndrome	Episcleritis, Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel va...	ORPHA:1467
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract...	OMIM:259710
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Multiple pulmonary cysts, Cutaneous leiomyosarcoma, Spontaneous pneumothorax, Tri...	OMIM:135150
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft pala...	OMIM:164200
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury	ORPHA:54057
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Bronchiectas...	OMIM:618523
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact...	OMIM:613500
Bloom Syndrome	Poor appetite, Bronchitis, Uveitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Ot...	ORPHA:125
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, High p...	ORPHA:98905
Hypophosphatasia, Childhood	Carious teeth, Craniosynostosis, Short stature, Premature loss of primary teeth	OMIM:241510
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,...	ORPHA:892
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla...	ORPHA:2198
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Spina bifida occulta, Bi...	OMIM:300373
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Scarring, Craniosynostosis, Oral mucosal blisters, Growth delay, Atrophic scars, Smooth...	ORPHA:79396
Idiopathic Pulmonary Fibrosis	Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Gastroesoph...	ORPHA:2032
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Hypertensio...	OMIM:186580
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,...	ORPHA:2298
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci...	OMIM:602400
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Episodic hyperhidrosis, Decreased circulating free fatty acid level, Syncope, Agitat...	ORPHA:276556
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Lipemia retinalis, Hepatomegaly	OMIM:207750
Hyperlipoproteinemia, Type I	Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis, Lipemia retinalis	OMIM:238600
Hermansky-Pudlak Syndrome 1	Epistaxis, Abdominal pain, Hematochezia, Restrictive ventilatory defect, Inflammation of the larg...	OMIM:203300
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Telecanthus, Eczema, Obesity	ORPHA:3055
Erosive Pustular Dermatosis Of The Scalp	Pustule, Scarring alopecia of scalp, Abnormal hair morphology	ORPHA:222
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Xerostomia, H...	ORPHA:238468
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Craniosynostosis, Micrognathia, Hypoplasia of the maxi...	OMIM:182212
Zimmermann-Laband Syndrome 3	Thick hair, Kyphosis, Synophrys, Thick lower lip vermilion, Flexion contracture, Gingival overgro...	OMIM:618658
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Diarrhea, Flexion contracture, Arthritis	ORPHA:231
Neonatal Lupus Erythematosus	Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hepa...	ORPHA:398124
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ...	ORPHA:93346
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract...	ORPHA:361
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Herpes simplex encephalitis, Recurrent aphthous stomatitis	OMIM:614850
Cystic Echinococcosis	Abnormal peritoneum morphology, Elevated gamma-glutamyltransferase level, Peritoneal abscess, Bil...	ORPHA:400
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Low anterior hairline, Prematur...	ORPHA:769
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut...	ORPHA:443811
Nelson Syndrome	Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre...	ORPHA:199244
Diencephalic Syndrome	Decreased body weight, Cachexia, Hyperhidrosis	ORPHA:1672
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita...	ORPHA:89936
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer	OMIM:246470
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Short stature, Agenesis of maxillary lateral incisor	OMIM:616390
Lichen Planus Pemphigoides	Pruritus, Conjunctivitis, Blepharitis	ORPHA:254478
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Caroli Disease	Liver abscess, Cholangitis, Vomiting, Hepatic fibrosis, Elevated gamma-glutamyltransferase level,...	ORPHA:53035
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno...	ORPHA:79644
Crouzon Syndrome	Respiratory insufficiency, Narrow palate, Conjunctivitis, Iris coloboma, Ptosis	ORPHA:207
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Inguinal hernia, Thoracic scoliosis, Short stature, Rhizomelia, Microgn...	OMIM:613848
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal hair quantity, Abnormal oral mucosa morphology, Abnormality o...	ORPHA:289
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula...	OMIM:619708
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo...	ORPHA:53719
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L...	OMIM:612840
Neuropathy, Congenital Hypomyelinating, 3	Epicanthus, Limb joint contracture, Cachexia, Flexion contracture, Narrow palate, Respiratory ins...	OMIM:618186
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Alexander Disease	Facial palsy, Bowel incontinence, Sudden cardiac death, Hypothyroidism, Respiratory insufficiency...	ORPHA:58
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Hemivertebrae, Downturned corners of mouth, Widely spaced te...	OMIM:156200
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin, Eczema, Kera...	ORPHA:330058
Immunodeficiency 66	Pustule, Meningitis, Recurrent skin infections	OMIM:618847
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Abnormal ...	ORPHA:2635
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas...	OMIM:613845
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Inflammatory abnormality of the skin, Villous a...	ORPHA:398063
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor	OMIM:302350
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyro...	ORPHA:226313
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In...	ORPHA:99147
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Cryptor...	OMIM:619326
Sézary Syndrome	Hepatomegaly, Alopecia, Skeletal muscle atrophy, Abnormal pleura morphology, Pruritus, Splenomega...	ORPHA:3162
Urban-Rogers-Meyer Syndrome	Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Micrognathia, Short ne...	ORPHA:3409
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Neuromuscular dys...	ORPHA:449285
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Short stature, Camptodactyly of finger, Osteomalacia, Aggressive behavior, Pos...	OMIM:309000
Moynahan Syndrome	Sparse hair, Alopecia, Cachexia	ORPHA:2574
Variegate Porphyria	Increased urinary porphobilinogen, Tachycardia, Elevated urinary delta-aminolevulinic acid, Porph...	OMIM:176200
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Bronchiectasis	OMIM:608957
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczema, Hypertrichosis	OMIM:176090
Cherubism	Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod...	OMIM:118400
Leprechaunism	Enlarged ovaries, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocal...	ORPHA:508
Hypophosphatasia, Adult	Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Recurrent fract...	OMIM:146300
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Crackles, Nonproductive cough, Atelectasis, Dyspnea, W...	ORPHA:2902
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Epicanthus, Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tr...	OMIM:614069
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Trichothiodystrophy 3, Photosensitive	Natal tooth, Failure to thrive, Brittle hair, Short stature, Carious teeth, Bilateral cryptorchid...	OMIM:616395
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Sparse scalp hair, Short stature, Sparse eyelashes, Sparse eyebrow, Cranial hyperost...	OMIM:601345
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Recurrent viral infections, Dec...	ORPHA:169154
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Micrognathia, Premature graying of hair, High palate, Sparse hair, Microdo...	OMIM:268400
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Temporal Arteritis	Retinal arteritis	OMIM:187360
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Leukopenia, Monocytosis, Bone marrow h...	OMIM:616871
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology, Fine hair	ORPHA:3236
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Elevated circulating creatine kinase concentration, Hypothermia, Pe...	OMIM:618775
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Situs...	OMIM:613807
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Epicanthus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hep...	OMIM:610199
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Ruvalcaba Syndrome	Inguinal hernia, Dental crowding, Short stature, Kyphosis, Cryptorchidism, Scoliosis, Delayed pub...	OMIM:180870
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Erythermalgia, Primary	Pruritus, Diarrhea, Xerostomia, Hyperhidrosis, Keratoconjunctivitis sicca, Constipation, Palpitat...	OMIM:133020
Costello Syndrome	Failure to thrive in infancy, Abnormal dental enamel morphology, Short stature, Abnormality of th...	ORPHA:3071
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Cleft palate, Nail dystrophy, T...	ORPHA:2890
Chronic Mucocutaneous Candidiasis	Abnormal endocardium morphology, Recurrent respiratory infections, Recurrent urinary tract infect...	ORPHA:1334
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Elevated hepatic transaminase, Skin rash, Abnormal pattern of...	ORPHA:90062
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect...	OMIM:611884
Japanese Encephalitis	Respiratory distress, Skeletal muscle atrophy, Pulmonary edema, Neutrophilia, Facial palsy, Menin...	ORPHA:79139
Glycogen Storage Disease Ic	Cyclic neutropenia, Hepatoblastoma, Chronic pancreatitis, Spider hemangioma, Recurrent upper resp...	OMIM:232240
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo...	OMIM:102700
Pancreatitis, Hereditary	Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo...	OMIM:167800
Biotinidase Deficiency	Respiratory distress, Alopecia, Skin rash, Apnea, Recurrent viral infections, Recurrent candida i...	ORPHA:79241
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Diarrhea,...	ORPHA:20
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, High, narrow palat...	OMIM:180849
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H...	ORPHA:280356
Kleine-Levin Syndrome	Parageusia, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuali...	ORPHA:33543
Infant Botulism	Ptosis, Cardiac arrest, Bowel incontinence, Respiratory insufficiency due to muscle weakness, Dys...	ORPHA:178478
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Abnormal eyelid morphology, Anorectal anomaly, Low anterior hairline, He...	ORPHA:647
Autoimmune Hypoparathyroidism	Prolonged QT interval, Cataract, Autoimmune hypoparathyroidism, Dyspnea, Chronic mucocutaneous ca...	ORPHA:36913
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Dental crowding, Short stature, Carious teeth, Ab...	OMIM:269300
Lead Poisoning	Delayed eruption of teeth, Decreased female libido, Small for gestational age, Anorexia, Abnormal...	ORPHA:330015
Carney Triad	Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin...	ORPHA:139411
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Eosinophilia, Craniosynostosis, Abnormality...	ORPHA:2314
Congenital Arthrogryposis With Anterior Horn Cell Disease	Short neck, Micrognathia, Kyphosis, Cryptorchidism, High palate, Scoliosis, Arthrogryposis multip...	OMIM:611890
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the...	ORPHA:99889
Takayasu Arteritis	Arteritis	OMIM:207600
Trimethylaminuria	Hypertension, Tachycardia, Trimethylaminuria	OMIM:602079
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Gastroesophageal reflux, Vomiting, Cough, Hilar lymph node enlargement, Hepatomegaly, T...	OMIM:620233
Mannosidosis, Beta A, Lysosomal	Increased urinary disaccharide excretion, Hyperactivity, Aggressive behavior	OMIM:248510
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Tachypnea, Ventricular tachycardia, Atrioventricular bl...	ORPHA:26793
C1Q Deficiency 2	Chilblains, Pneumocystis carinii pneumonia, Discoid lupus rash, Atelectasis, Bronchiectasis, Arth...	OMIM:620321
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa...	OMIM:619752
Mirage Syndrome	Recurrent urinary tract infections, Thrombocytopenia, Esophageal stricture, Chronic diarrhea, Pat...	OMIM:617053
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointest...	ORPHA:95455
Whim Syndrome 1	Verrucae, Recurrent upper respiratory tract infections, Bronchiectasis, Neutropenia	OMIM:193670
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Amyloidosis, Familial Visceral	Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension	OMIM:105200
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent skin infections, Recurrent upper respiratory tract infections, Atopic dermatitis, Decre...	OMIM:618944
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Short stature...	ORPHA:420561
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Diarrhea, Hepatic fibrosi...	ORPHA:247585
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Calf muscle pseudohypertrophy, Abnormal cardiovascular system p...	ORPHA:79086
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Gout, Xanthelasma, Hypertensi...	OMIM:232200
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Thoracolumbar kyphosis, Bilateral ca...	OMIM:619777
Immunoglobulin A Vasculitis	Episcleritis, Gastrointestinal hemorrhage, Skin rash, Orchitis, Pustule, Vasculitis, Arthritis, G...	ORPHA:761
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Decreased liver function, Acute hepatitis, Failure to thrive, Episodic vomiting	OMIM:238970
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Joint hypermobility, Diastema, Agenesis of molar, Supe...	OMIM:619718
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sacral dimple, Dental crowding, Micrognathia, Hyperlordosis, Kyphosis, ...	OMIM:615761
Acute Disseminated Encephalomyelitis	Viral hepatitis, Respiratory failure requiring assisted ventilation, Disseminated viral infection...	ORPHA:83597
Classic Pantothenate Kinase-Associated Neurodegeneration	Dysphagia, Weight loss, Aspiration pneumonia, Cough, Abnormal posturing	ORPHA:216866
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Retinal arteriolar constriction, Skin rash	OMIM:124950
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Increased level of hippuric acid in urine, Elevate...	OMIM:261600
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Pelger-Huet Anomaly	Mild short stature, Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hyposegme...	OMIM:169400
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma...	ORPHA:562639
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Sneddon Syndrome	Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Retrobulbar optic neuritis, Leukocytosis,...	ORPHA:1451
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidis...	OMIM:618183
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Diabetes mellitus, Abnormality of the thyroid gland, Cardiomyopathy, Hypogonadism, Bradycardia, D...	OMIM:609286
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Peutz-Jeghers Syndrome	Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop...	ORPHA:2869
Netherton Syndrome	Sparse scalp hair, Villous atrophy, Brittle hair, Recurrent skin infections, Eczema, Allergic rhi...	OMIM:256500
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Anorexia, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis	OMIM:611590
Plasminogen Deficiency, Type I	Duodenal ulcer, Recurrent upper respiratory tract infections, Conjunctivitis, Periodontitis, Neph...	OMIM:217090
Autosomal Recessive Spastic Paraplegia Type 77	Kyphoscoliosis, Bilateral cryptorchidism, Neuromuscular dysphagia, Macrodontia of permanent maxil...	ORPHA:466722
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Epicanthus, Facial hypotonia, Failure to thrive in infancy, Cachexia, Constipati...	OMIM:616801
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Elb...	OMIM:148210
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc...	OMIM:615481
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Tachycardia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentrat...	ORPHA:368
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath...	OMIM:617237
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Joint stiffness, Abnormality of the dentition, Kyphosis, Scoliosis, Abnormal testis morphology	ORPHA:1548
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic ...	OMIM:619510
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Conjugated hyperbi...	ORPHA:186
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta	OMIM:612783
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr...	ORPHA:57777
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Pustule, Ulcerative colitis, Cutaneous abscess	ORPHA:555905
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Eczema, Eosinophilia, Recurrent pneumonia, Promine...	ORPHA:353298
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Lipodystrophy, Sparse eyelashes,...	OMIM:209885
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Kyphosis, Cryptorchidism, Hyperinsu...	ORPHA:3085
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Abnormal dental morphology, Selective tooth agenesis, Carious ...	ORPHA:1897
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Decreased fertility, Hypoplasia of t...	OMIM:234050
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Large for gestational age, Cuboid-shaped vertebral bodies, Dental maloc...	OMIM:612731
Maple Syrup Urine Disease	Vomiting, Pancreatitis	OMIM:248600
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Abnormality of the lymphatic system, Septic arthritis	ORPHA:36237
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Dysphagia, Joint hypermobility	OMIM:618323
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Leukocytosis, Jaundice, Recurrent pancreat...	ORPHA:676
15Q24 Microdeletion Syndrome	Joint laxity, Broad eyebrow, Small for gestational age, Decreased response to growth hormone stim...	ORPHA:94065
Tuberculosis	Cough, Abnormal lung morphology, Weight loss	ORPHA:3389
Methylmalonic Acidemia With Homocystinuria	Failure to thrive, Skin rash	ORPHA:26
Vici Syndrome	Albinism, Recurrent viral infections, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, ...	OMIM:242840
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Abnormality of ...	ORPHA:53
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Nausea, Fulminant hepatitis, Jaundice, Hepatic failu...	OMIM:618549
Atelis Syndrome 1	Cataract, Ventricular septal defect, Eczema, Hypothyroidism, Thrombocytopenia, Bronchiectasis, Re...	OMIM:620184
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, High palate, Neutropenia, Microdontia, Sparse hair, Short stature, A...	ORPHA:221016
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp...	OMIM:619971
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension, Increased circulating cortisol level, Truncal obesity, Primary hypercortisolism, Pa...	OMIM:610475
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l...	ORPHA:91387
Sandifer Syndrome	Torticollis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Abnormal posturing...	ORPHA:71272
Systemic Lupus Erythematosus 17	Lymphopenia, Alopecia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukope...	OMIM:301080
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Small for gestational age, Aspiration pneumonia	OMIM:619057
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Severe short stature, Recurrent fractures, Carious teeth, Osteoporosis, Platyspondyly...	OMIM:126550
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper...	ORPHA:682
Temtamy Syndrome	Dental crowding, Highly arched eyebrow, Micrognathia, Hypoplasia of teeth, Long philtrum, Self-mu...	OMIM:218340
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:145260
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B...	OMIM:615745
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria	OMIM:234500
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Kyphosis, Synophrys, Cleft palate, Short philtrum, Scoliosis, Hypertrichosis	ORPHA:85317
African Trypanosomiasis	Conjunctivitis, Vomiting, Iritis, Nausea, Abnormal EKG, Alopecia, Hepatomegaly, Hepatosplenomegal...	ORPHA:3385
Camurati-Engelmann Disease	Delayed eruption of teeth, Cachexia, Anorexia, Carious teeth, Splenomegaly, Abnormal subcutaneous...	ORPHA:1328
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Skin rash, Ventricular septal defect, Splenomegaly, Jaun...	ORPHA:290
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L...	OMIM:618213
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Normocytic anemia, Orthostatic hypotension, Decreased circulating cortisol le...	ORPHA:199299
Hypocalciuric Hypercalcemia, Familial, Type Ii	Peptic ulcer, Primary hyperparathyroidism, Pancreatitis	OMIM:145981
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, Obesity, Polyphagia	ORPHA:177910
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Alopecia, Chronic active hepatitis, Hepatomegal...	OMIM:203800
Yellow Nail Syndrome	Renal neoplasm, Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bro...	ORPHA:662
Myopathic Ehlers-Danlos Syndrome	Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract...	ORPHA:536516
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Dental malocclus...	OMIM:618975
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia, Diabetes insipidus	ORPHA:95626
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis, Slender build...	OMIM:300676
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis	OMIM:175510
Congenital Muscular Dystrophy, Ullrich Type	Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Elbow flexion contractu...	ORPHA:75840
Staphylococcal Necrotizing Pneumonia	Shock, Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pn...	ORPHA:36238
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Joint laxity, Hyperactivity, Short stature, Aggressive behavior, Kyphosis,...	OMIM:300354
Vipoma	Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevate...	ORPHA:97282
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Premature ovarian insufficiency, Short stature, Kyphoscoliosis, Abnormality of the...	ORPHA:391307
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, Hypoplasia of the t...	ORPHA:861
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re...	OMIM:615139
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Inguinal hernia, Proportionate short stature, Trismus, Deep philtrum, Cryptorch...	OMIM:227330
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Highly arched eyebrow, Tongue thrusting, Pica, Downturned corners of mouth, Stereo...	OMIM:617865
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:612649
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Primary Angiitis Of The Central Nervous System	Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis	ORPHA:140989
Muir-Torre Syndrome	Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla...	ORPHA:587
D-Glyceric Aciduria	Tongue thrusting, Nonketotic hyperglycinemia, Aminoaciduria, Bradycardia, Micropenis	OMIM:220120
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto...	ORPHA:79102
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail d...	OMIM:619016
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr...	ORPHA:97339
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Hypotension, Prolonged neonatal jaundice	ORPHA:199296
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Eczema, Small for gestational age, Decreased proportion of CD8-posi...	OMIM:617241
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H...	OMIM:619736
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension	OMIM:263400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hypothyroidism, Hepatomega...	ORPHA:79259
Frank-Ter Haar Syndrome	Osteopenia, Thin upper lip vermilion, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, M...	OMIM:249420
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone...	ORPHA:79474
Fibrosis Of Extraocular Muscles, Congenital, 3C	Thin upper lip vermilion, Kyphosis, Highly arched eyebrow	OMIM:609384
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh...	ORPHA:545
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin	ORPHA:90160
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Increased mean platelet vo...	ORPHA:487796
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Short stature, Micrognathia, O...	ORPHA:2484
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Gastrointestinal stro...	OMIM:115310
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,...	ORPHA:40
Au-Kline Syndrome	Failure to thrive, Sacral dimple, Thoracolumbar scoliosis, Sagittal craniosynostosis, Craniosynos...	OMIM:616580
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Recurrent pneumonia, Secretory diarrhea, Hypertension, Long eyelashes, Vomiting, Failure...	OMIM:616069
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Short stature, Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Scoliosis	OMIM:617404
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom...	ORPHA:97289
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, High, narrow palate, Abnormal form of the vertebral bodies, Ra...	ORPHA:3258
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Pericardial effusion, Congestive heart failure, ST se...	OMIM:261740
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Weight loss, Adrenocorticotropi...	ORPHA:100083
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Cheilitis, Neoplasm of the urethra, Squamous cel...	ORPHA:2908
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Anorexia, Splenomegaly, Iridocyclitis, Emphysema, Dyspnea, Bronchiectasis, Uveitis,...	OMIM:181000
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Melas	Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Ragg...	ORPHA:550
Gamma-Heavy Chain Disease	Hepatomegaly, Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmun...	ORPHA:100026
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Facial hypertrichosis, Erythrodontia, Scarring, Scarring alopecia o...	ORPHA:95159
Orofaciodigital Syndrome Viii	High palate, Hamartoma, Recurrent aspiration pneumonia, Cleft palate	OMIM:300484
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pyloric stenosis, Asthma, Atopic dermatitis, Pulmonic stenosis, Campto...	OMIM:614262
Angelman Syndrome	Mandibular prognathia, Hyperactivity, Fair hair, Precocious puberty in females, Protruding tongue...	ORPHA:72
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Pancreatic calcification, Weight loss, Chronic calcifying pa...	ORPHA:103918
Trichinellosis	Skin rash, Facial palsy, Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjun...	ORPHA:863
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Alopecia, Diabetes mellitus, Short stature, Abnormal hair pattern, Abn...	ORPHA:2315
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-...	OMIM:271530
Ulerythema Ophryogenesis	Acne, Contact dermatitis, Sparse lateral eyebrow	ORPHA:3406
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Abnormal curvature of the vertebral column, Compulsive behaviors, Abnormality of...	ORPHA:353281
Alexander Disease Type I	Failure to thrive, Vomiting, Cachexia, Dysphagia	ORPHA:363717
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, D...	OMIM:617092
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d...	OMIM:616733
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Hand muscle weakness, Congesti...	ORPHA:98908
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Synophrys, Joint hyperflexibility, Scoliosis, Malar flattening, Retrognathia, Abno...	ORPHA:1390
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Elevated circulating th...	OMIM:218700
Erythrokeratodermia Variabilis	Alopecia, Cataract, Skin rash, Corneal opacity, Abnormal hair morphology, Weight loss, Generalize...	ORPHA:317
Camurati-Engelmann Disease	Mandibular prognathia, Reduced subcutaneous adipose tissue, Increased bone mineral density, Cario...	OMIM:131300
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Stroke, Cerebral hemorrhage	OMIM:300049
Cardiospondylocarpofacial Syndrome	Severe short stature, High, narrow palate, Abnormal form of the vertebral bodies, Failure of erup...	ORPHA:3238
Boutonneuse Fever	Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Diarrhea, Cervical lymphadenop...	ORPHA:83313
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Facial hypertrichosis, Scarring, An...	ORPHA:79277
Stuve-Wiedemann Syndrome 2	Respiratory distress, Eczema, Congestive heart failure, Thrombocytopenia, Dysphagia, Pulmonary ar...	OMIM:619751
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections...	ORPHA:70593
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis	OMIM:145001
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, M...	OMIM:224300
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis	OMIM:615994
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,...	ORPHA:79408
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Hypo...	ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Hypo...	ORPHA:453504
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather...	ORPHA:280679
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Short stature, Dysmenorrhea, Sparse e...	ORPHA:2067
Primary Fanconi Renotubular Syndrome	Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Kleefstra Syndrome 2	Kyphosis, Growth delay, Self-injurious behavior, Everted lower lip vermilion, Scoliosis, Bifid uv...	OMIM:617768
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Elbow ankylosis, Bifid uvula, Increased bone mineral ...	ORPHA:2658
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Emanuel Syndrome	Multiple joint contractures, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High...	ORPHA:96170
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Open ...	ORPHA:950
Pituitary Adenoma 4, Acth-Secreting	Edema, Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level, Hypertension, Hypoka...	OMIM:219090
Lynch Syndrome 8	Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer, Endome...	OMIM:613244
Cockayne Syndrome	Dry hair, Congenital contracture, Abnormal dental morphology, Cryptorchidism, Agenesis of permane...	ORPHA:191
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Atrioventricular block, Cardiorespiratory arrest, Respiratory insufficiency, Arrhythmia	ORPHA:93317
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow	OMIM:618506
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Short stature, Camptodactyly	OMIM:618453
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:470
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Nail dystrophy, Amelogenesis imperfecta	OMIM:245660
Zimmermann-Laband Syndrome 2	Thick eyebrow, Short stature, Short neck, Kyphosis, Deep philtrum, Synophrys, Widow's peak, Gingi...	OMIM:616455
Orofaciodigital Syndrome I	Microretrognathia, Dry hair, Median cleft lip, Short stature, Alopecia, Hamartoma of tongue, Clef...	OMIM:311200
Immunodeficiency 13	Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:615518
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Short stature, Malar prominence, Short neck, Micrognathia, Hyperlordo...	ORPHA:2522
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Neonatal death, Elevated circulating glutaric acid concentration, Hepatic...	OMIM:231680
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Neutropenia, Reduced na...	OMIM:615214
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Pancytopenia, Cataract, Corneal opacity, Pneumonia, Hepatosplenomegaly, Rec...	ORPHA:309288
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Sparse pubic...	OMIM:258360
Dysbetalipoproteinemia	Accelerated atherosclerosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Angina pectoris...	ORPHA:412
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Precocious puberty, Head-banging, Delayed eruption of permanent teeth, Narrow mouth...	OMIM:619356
Wolfram Syndrome 2	Gastric ulcer	OMIM:604928
Mirizzi Syndrome	Elevated hepatic transaminase, Tachycardia, Nausea, Jaundice, Gallbladder perforation, Elevated c...	ORPHA:521219
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Chronic otitis media, Neonatal respiratory distress, Abnormal a...	ORPHA:244
Marshall Syndrome	Short stature, Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion,...	OMIM:154780
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Abnormality of the pan...	ORPHA:54251
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu...	ORPHA:79332
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Necrotizing Enterocolitis	Shock, Hyponatremia, Edema, Bradycardia, Hypotension, Ascites	ORPHA:391673
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Dyskeratosis Congenita, X-Linked	Hyperhidrosis, Premature graying of hair, Leukopenia, Conjunctivitis, Pterygium, Alopecia, Restri...	OMIM:305000
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Oslam Syndrome	Short stature, Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean c...	ORPHA:2760
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage	OMIM:263300
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of...	OMIM:113000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczema, Lymphadenopathy	OMIM:254400
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Short stature, Rhizomelia, Short neck, Micrognathia, Kyphosis, Limitation...	ORPHA:3098
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Sagittal craniosynostosis, Craniosynostosis, Li...	OMIM:101200
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture, Kyphoscoliosis	OMIM:617105
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss	ORPHA:79238
Slc35A1-Cdg	Respiratory distress, Prolonged bleeding time, Pneumonia, Giant platelets, Hypoxemia, Neutropenia...	ORPHA:238459
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nasolacrimal duct obst...	OMIM:103285
Juvenile Arthritis	Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, Sparse hair	ORPHA:2266
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D...	ORPHA:93111
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia...	ORPHA:453533
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Abnormal form of the ...	ORPHA:819
Aymé-Gripp Syndrome	Sparse scalp hair, Pericarditis, Pericardial effusion, Patent ductus arteriosus, Cleft palate, Lo...	ORPHA:1272
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t...	ORPHA:811
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati...	OMIM:613327
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia, Arrhythmia, Myoglobinuria, Acute kidney in...	ORPHA:57
Bangstad Syndrome	Short stature, Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinem...	ORPHA:1227
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin...	OMIM:614017
Mucolipidosis Type Iii	Abnormal heart valve morphology, Acne, Corneal opacity, Cleft palate, Abnormal aortic valve morph...	ORPHA:577
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Micrognathia, Hy...	ORPHA:2780
Chronic Graft Versus Host Disease	Fasciitis, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Alopecia, Bro...	ORPHA:99921
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Thick eyebrow, Short stature, Highly arched eyebrow, Velopharyngeal ins...	OMIM:614701
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Short stature, Dysphagia, Oligodontia, ...	ORPHA:447896
Hereditary Central Diabetes Insipidus	Polydipsia, Diabetes insipidus	ORPHA:30925
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Corneal opacity, Abnormal pleura morphology, Splenomegaly, Hepa...	ORPHA:584
Tetrasomy 9P	Absent gallbladder, Epicanthus, Myositis, Pericarditis, Dextrocardia, Recurrent urinary tract inf...	ORPHA:3310
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun...	ORPHA:309031
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Downturned corners of mouth, High palate, Widely spaced t...	OMIM:618371
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Eczema, Thrombocytopenia, Leukopenia, Bone marrow hypocellulari...	OMIM:618116
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ...	ORPHA:99772
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Sparse scalp hair, Lipodystrophy, Short stature, Kyphoscoliosis, Sparse eyelashes, Sp...	ORPHA:75496
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage	ORPHA:100006
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Recurrent viral infect...	OMIM:618048
Bardet-Biedl Syndrome 9	Renal insufficiency, Polydipsia, Polyphagia	OMIM:615986
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Noonan Syndrome 8	Curly hair, Epicanthus, Atrial septal defect, Ventricular septal defect, Eczema, Large for gestat...	OMIM:615355
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, High, narrow palate, Right ventricular dilatation, High p...	OMIM:619472
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Short stature, Growth dela...	OMIM:614381
Yellow Fever	Shock, Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase conc...	ORPHA:99829
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Pruritus, Abnormality of the spleen, Diarrhea, Wheezin...	ORPHA:79456
Wagro Syndrome	Mandibular prognathia, Dental crowding, Micrognathia, Aggressive behavior, Obesity, Agitation, Co...	OMIM:612469
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Hyperactivity, Short stature, Camptodactyly of finger, Cachexia, Aggressive beha...	ORPHA:85293
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs...	ORPHA:35078
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613736
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Esophageal stricture, Cheilitis, Bronchiectasis, Recurrent ...	OMIM:615468
Cebalid Syndrome	Highly arched eyebrow, Congenital diaphragmatic hernia, High palate, Polyphagia, Thick eyebrow	OMIM:618774
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp...	ORPHA:480536
Pseudohypoaldosteronism, Type Iib	Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia	OMIM:614495
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Abnormal form of the vertebral bodies, Sparse ...	ORPHA:2710
Illum Syndrome	Calcinosis, Bradycardia	OMIM:208155
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Xeroderma Pigmentosum, Variant Type	Entropion, Keratitis, Cutaneous telangiectasia, Conjunctivitis, Ectropion	OMIM:278750
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Immunodeficiency 77	Gastroparesis, Nontuberculous mycobacterial pulmonary infection, Chronic pulmonary obstruction, R...	OMIM:619223
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Pancreatitis, Diarrhea, Vomi...	OMIM:155310
Mevalonic Aciduria	Vomiting, Morbilliform rash, Attenuation of retinal blood vessels, Normocytic hypoplastic anemia,...	OMIM:610377
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Chromomycosis	Keratitis, Pruritus, Abnormal lung morphology, Recurrent bacterial infections, Keratoconjunctivit...	ORPHA:182
Alveolar Echinococcosis	Liver abscess, Cholangitis, Vomiting, Cough, Abnormal pericardium morphology, Portal hypertension...	ORPHA:284
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Sacral dimple, Large for gestational age, Micrognathia, Kyphosis, Overgrowth, Um...	OMIM:618272
Cysticercosis	Calcification of muscles, Iridocyclitis, Abnormal skeletal muscle morphology, Abnormal myocardium...	ORPHA:1560
Congenital Tufting Enteropathy	Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality...	ORPHA:92050
Glutamine Deficiency, Congenital	Hypoglutaminemia, Bradycardia, Hyperammonemia	OMIM:610015
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Bradycardia, Partial devel...	OMIM:608800
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Abnormal intervertebral disk morphology, Short stature, Carious teeth, Cryptor...	ORPHA:2701
Myofibrillar Myopathy 10	Mandibular prognathia, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexi...	OMIM:619040
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced te...	ORPHA:2728
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Vasculitis in the skin	ORPHA:90159
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract...	OMIM:166200
Familial Multiple Lipomatosis	Odontogenic keratocysts of the jaw, Lipodystrophy, Increased adipose tissue, Insulin resistance, ...	ORPHA:199276
Eiken Syndrome	Short stature, Persistence of primary teeth, Delayed epiphyseal ossification, Thick lower lip ver...	OMIM:600002
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Increased circulating lactate dehydrogenase concentration, Epista...	OMIM:614034
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir...	OMIM:618459
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ...	OMIM:163950
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Hyperactivity, Short stature, Kyphosis, Scoliosis, Bruxism, Hirsutism	OMIM:300434
Igg4-Related Aortitis	Increased inflammatory response, Intestinal obstruction, Thoracic aortic aneurysm, Asthma, Hypere...	ORPHA:449400
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:609152
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Inguinal hernia, Severe short stature, Short stature, Short neck, Sple...	OMIM:309900
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corne...	OMIM:278730
Coproporphyria, Hereditary	Hypertension, Tachycardia, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulin...	OMIM:121300
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Inguinal hernia, Short stature, H...	OMIM:303600
Diastrophic Dysplasia	Increased bone mineral density, Camptodactyly of finger, Micrognathia, Joint stiffness, Kyphosis,...	ORPHA:628
Lymphedema-Distichiasis Syndrome	Ectropion, Ventricular septal defect, Yellow nails, Patent ductus arteriosus, Tetralogy of Fallot...	OMIM:153400
Immunodeficiency 43	Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,...	OMIM:241600
Cranioectodermal Dysplasia 1	Joint laxity, Inguinal hernia, Rhizomelia, Short nail, Sagittal craniosynostosis, Slow-growing ha...	OMIM:218330
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,...	OMIM:259600
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Short stature, Thick hair, Hamartoma of tongue, Micrognathia, Unil...	ORPHA:2751
Crisponi Syndrome	Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitation of joint mobilit...	ORPHA:1545
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Short stature, High, narrow palate, Kyphosis, Obesity, Scoliosis	OMIM:618124
Huntington Disease	Abnormal libido, Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol u...	ORPHA:399
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Hypothermia, Elevated urinary dopamine level, Elevated cir...	ORPHA:230
Tumoral Calcinosis, Normophosphatemic, Familial	Calcinosis, Conjunctivitis	OMIM:610455
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Short stature, Abnormality of the dentition, Precocious puberty, La...	ORPHA:261652
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar...	ORPHA:624
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Cleft lip, Cryptorchi...	OMIM:603457
4Q21 Microdeletion Syndrome	Abnormality of the dentition, Short neck, Kyphosis, Synophrys, Downturned corners of mouth, Self-...	ORPHA:238750
Odontoonychodermal Dysplasia	Sparse scalp hair, Dry hair, Short nail, Sparse eyebrow, Abnormality of primary teeth, Agenesis o...	OMIM:257980
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperp...	ORPHA:247691
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Agitation, Fine hair	OMIM:272300
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiectasis, Immotile cilia, Abnorma...	OMIM:244400
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614376
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Patent ductus arteriosus, Tachypnea, Normochromic anemia,...	OMIM:614857
Chilblain Lupus 1	Raynaud phenomenon, Chilblains	OMIM:610448
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Increased circulating lacta...	ORPHA:232
Xeroderma Pigmentosum, Complementation Group E	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion	OMIM:278740
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis	OMIM:614328
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Highly arched eyebrow, Abnormality of the dentition, Submucous cleft h...	ORPHA:2712
Cranioectodermal Dysplasia 3	Joint laxity, Short stature, Rhizomelia, Sagittal craniosynostosis, Micrognathia, Short nail, Hyp...	OMIM:614099
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level	ORPHA:96181
Carpenter Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Short neck, High palate, Spina bifida occulta, Short sta...	OMIM:201000
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Hypoglycemia, Short stature, Kyphoscoliosis, High palate, Neutrope...	OMIM:618005
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Bethlem Myopathy 2	Kyphosis, Distal joint laxity, Flexion contracture, Atrophic scars, Scoliosis	OMIM:616471
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Recurre...	OMIM:616005
Cortisone Reductase Deficiency 1	Alopecia, Acne, Obesity, Hirsutism	OMIM:604931
Bent Bone Dysplasia Syndrome 1	Natal tooth, Micrognathia, Gingival overgrowth, Hepatosplenomegaly, Decreased calvarial ossificat...	OMIM:614592
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Sotos Syndrome	Mandibular prognathia, Joint laxity, Tall stature, Aggressive behavior, Sparse eyebrow, High, nar...	OMIM:117550
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:612650
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Colorectal Cancer, Susceptibility To, 10	Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis, Endometrial carcinoma	OMIM:612591
Anti-Glomerular Basement Membrane Disease	Arthritis, Anemia, Persistence of primary teeth	ORPHA:375
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri...	OMIM:227810
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, High palate, Microdontia, Osteoporosis, Sc...	ORPHA:536467
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ...	ORPHA:699
Bardet-Biedl Syndrome 22	Polyphagia, Hypogonadism, Obesity, Large for gestational age	OMIM:617119
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes...	OMIM:603041
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Recurrent skin infections, Blepharophimosis, Overweight, Hypothyroidism, Recurrent upper respirat...	ORPHA:391372
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Primary hyperparathyroidism, Pancreatitis	OMIM:600740
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Cleft p...	ORPHA:1812
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Raynaud phenomenon, Leukocy...	OMIM:615688
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Holoprosencephaly 9	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:610829
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Increased level of gamma-aminobutyric acid...	OMIM:271980
13Q12.3 Microdeletion Syndrome	Recurrent respiratory infections, Congenital diaphragmatic hernia, Atopic dermatitis, Obesity, Up...	ORPHA:412035
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Wieacker-Wolff Syndrome	Short stature, Micrognathia, Short neck, Hyperlordosis, Kyphosis, High anterior hairline, Congeni...	OMIM:314580
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Thick eyebrow, Kyphoscoliosis, Aggressive behavior, Proportionate short st...	ORPHA:404443
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit...	OMIM:617091
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui...	ORPHA:99828
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435660
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Pancreatic islet cell adenoma, Diarrhea, Pituitary adenoma, Insulinoma, Parathyroid...	OMIM:131100
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Short stature, Slow-growing hair, Short neck, Micrognathia, Kyphosis, Cryp...	ORPHA:3082
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon...	OMIM:615873
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Short stature, Highly arched eyebrow, Carious teeth, Thick lower lip vermilion, Narrow palate, Na...	ORPHA:457365
Crouzon Syndrome	Keratitis, High palate, Conjunctivitis, Shallow orbits	OMIM:123500
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Dental crowding, Joint hypermobility, Congenital diaphragmatic her...	OMIM:617602
Kleefstra Syndrome	Mandibular prognathia, Tented upper lip vermilion, Synophrys, Downturned corners of mouth, Hernia...	ORPHA:261494
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia	OMIM:617885
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Short stature, Sagittal cran...	OMIM:145420
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Elevated circulating aspartate aminotransferase conc...	OMIM:617253
Infantile Krabbe Disease	Respiratory distress, Abnormal circulating enzyme concentration or activity, Cachexia, Recurrent ...	ORPHA:206436
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Facial palsy, Cheilitis, Lymphadenopathy, Furrowed tongue, ...	ORPHA:2483
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion	OMIM:615560
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Chronic diarrh...	ORPHA:2221
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Microphthalmia, Syndromic 2	Flexion contracture, Oligodontia, Fused teeth, Laterally curved eyebrow, Contracture of the proxi...	OMIM:300166
Pseudohypoaldosteronism, Type Iie	Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia	OMIM:614496
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Branchioskeletogenital Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Synophrys, Downturned corners of mo...	ORPHA:1299
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypothermia	OMIM:615026
Ige Responsiveness, Atopic	Asthma, Eczema, Allergic rhinitis	OMIM:147050
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Atrial septal defect, Asthma, Obesity, Astigmatism, Retinal vascul...	OMIM:619471
Malignant Peritoneal Mesothelioma	Dyspnea, Peritonitis, Ileus, Weight loss	ORPHA:168811
Erythema Nodosum, Familial	Erythema nodosum	OMIM:132990
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Conjunctivitis, Sparse hair, Absent eyebrow, Alopecia, Abnor...	ORPHA:2273
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ...	ORPHA:913
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Sparse scalp hair, Short stature, Sparse eyelashes, Sagittal craniosynostosis, Micro...	OMIM:616901
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Short philtr...	ORPHA:193
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:614679
Intellectual Developmental Disorder, Autosomal Recessive 5	Telecanthus, Small for gestational age, Eczema, Synophrys, Achilles tendon contracture, Sparse ha...	OMIM:611091
Coach Syndrome 2	Hyperechogenic kidneys, Elevated circulating creatinine concentration	OMIM:619111
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron...	OMIM:604571
Complement Component 8 Deficiency, Type I	Meningitis	OMIM:613790
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Achondrogenesis, Type Ib	Polyhydramnios, Edema, Hydrops fetalis, Stillbirth, Umbilical hernia, Neonatal short-limb short s...	OMIM:600972
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Hypoka...	OMIM:617913
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Constipation, Sev...	ORPHA:371364
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Skeletal muscle atrophy, Angina pectoris, Abnormal large intestine morpholo...	ORPHA:109
Wilson Disease	Acute hepatic failure, Osteoarthritis, Vomiting, Hepatic steatosis, Hypoparathyroidism, Hepatomeg...	OMIM:277900
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Dystonia 31	Abnormal posturing, Dysphagia	OMIM:619565
Odontomicronychial Dysplasia	Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Prematu...	ORPHA:1811
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re...	OMIM:613808
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis,...	ORPHA:85199
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Micrognathia, Precocious puberty, High, narrow palate, Short neck, Cryptorchidism, A...	ORPHA:96092
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst...	OMIM:614227
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco...	OMIM:313420
Rhabdoid Tumor	Respiratory insufficiency, Weight loss, Anemia, Hypertension, Neoplasm of the liver, Lymphadenopa...	ORPHA:69077
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Hypoventilation, Decreased response to growth hormone stimulation ...	ORPHA:293987
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ...	ORPHA:411593
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e...	ORPHA:652
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Pustule, Congestive heart failure, Overweight, Leukocytosis, Cheil...	ORPHA:247353
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	High, narrow palate, Kyphosis, Joint hyperflexibility, Disproportionate tall stature, Scoliosis, ...	ORPHA:2181
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars...	OMIM:616788
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor	ORPHA:2375
Esophageal Atresia	Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ...	ORPHA:1199
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Splen...	ORPHA:465508
Weaver Syndrome	Mandibular prognathia, Inguinal hernia, Kyphosis, Cryptorchidism, Limited elbow extension, Fine h...	OMIM:277590
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc...	OMIM:600175
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Cryptorchidism, Flexion contracture, High palate, Scoliosis, Arthrogryposis...	ORPHA:178148
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Adnp Syndrome	Joint laxity, Thin upper lip vermilion, Inguinal hernia, Sparse scalp hair, Short stature, Oral-p...	ORPHA:404448
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Recurrent skin infections, Atrial septal defect, Recurrent lower respirato...	OMIM:617744
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Short stature, Ab...	ORPHA:568
Kenny-Caffey Syndrome, Type 1	Proportionate short stature, Carious teeth, Decreased skull ossification, Birth length less than ...	OMIM:244460
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Thick eyebrow, Hypopl...	OMIM:211380
Ectodermal Dysplasia With Adrenal Cyst	Abnormality of the endocrine system, Hypoplastic nipples, Breast hypoplasia, Delayed eruption of ...	OMIM:129550
Monosomy 18P	Alopecia, Short stature, Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Cleft palate, L...	ORPHA:1598
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Mandibular prognathia, Kyphosis, Synophrys, Scoliosis, Hirsutism	OMIM:300861
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Failure to thrive in infancy, Cachexia, Bowel incontinence, Res...	ORPHA:702
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Abnormality of the dentition, Micrognathia, Aggressive behavior, Kyphosis, Synop...	ORPHA:476126
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Bronchitis, Recurrent viral ...	ORPHA:420741
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Sparse ha...	OMIM:618535
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ...	OMIM:274150
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Osteoporosis, Scolio...	ORPHA:284984
Blue Rubber Bleb Nevus	Skin rash, Microcytic anemia, Intestinal bleeding, Gastrointestinal infarctions, Volvulus	ORPHA:1059
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Persistence of primary teeth, Carious teeth, Postnatal growth retardation, Decreas...	ORPHA:93325
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Ventricular septal defect, Supernumerary nipple, Cachexia, Fine...	ORPHA:217346
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Cachexia, Head titubation, Upper-limb joint contracture, Distal amyotrop...	ORPHA:300605
Al Amyloidosis	Howell-Jolly bodies, Nonproductive cough, Xerostomia, Abnormality of the liver, Abnormal salivary...	ORPHA:85443
Arboleda-Tham Syndrome	Respiratory distress, Secundum atrial septal defect, Conjunctivitis, Gastroesophageal reflux, Chr...	OMIM:616268
Xeroderma Pigmentosum, Complementation Group C	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion	OMIM:278720
Erdheim-Chester Disease	Renal insufficiency, Polydipsia, Hypogonadotropic hypogonadism, Dysuria, Congestive heart failure...	ORPHA:35687
Absence Of Fingerprints-Congenital Milia Syndrome	Skin rash, Camptodactyly of finger, Hypohidrosis	ORPHA:1658
Immunodeficiency 23	Recurrent staphylococcal infections, Severe varicella zoster infection, High palate, Neutropenia,...	OMIM:615816
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:604367
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Hiatus hernia, Overweight, Persistence of hemoglob...	OMIM:619769
Abetalipoproteinemia	Cardiomegaly, Vomiting, Hepatic fibrosis, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Reticu...	ORPHA:14
Malt Lymphoma	Recurrent respiratory infections, Abnormal nasolacrimal system morphology, Mediastinal lymphadeno...	ORPHA:52417
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Generalized hirsutism, Cachexia, Ptosis	ORPHA:1933
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Short stature, Short neck, Kyphosis, Achilles tendon contract...	OMIM:301041
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Crypt...	ORPHA:2063
Xeroderma Pigmentosum, Complementation Group A	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion	OMIM:278700
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Short stature, ...	ORPHA:192
Difference Of Sex Development-Intellectual Disability Syndrome	Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Reduced bone mineral density, Downturned ...	ORPHA:2983
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form of the vertebral bodies, R...	ORPHA:828
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Sparse facial hair, Decreased serum estradiol, Alopecia, Streak ovary, Lumbar hyperlo...	ORPHA:2232
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Celiac disease, Eczema, Thyroiditis, Recurrent infections	OMIM:618985
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Abnormal dental enamel morphology	ORPHA:257
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Pancytopenia, Osteomyeli...	OMIM:259700
Rett Syndrome	Apnea, Intermittent hyperventilation, Cachexia, Constipation, Gastroesophageal reflux, Abnormal T...	OMIM:312750
Bazex-Dupre-Christol Syndrome	Eczema, Trichorrhexis nodosa, Atopic dermatitis, Furrowed tongue, Hypohidrosis, Coarse hair, Spar...	OMIM:301845
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, Diarrhea, Sever...	OMIM:619313
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Recurrent sinusitis, Absent circulating ...	OMIM:619707
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thrombocytopenia, Leukocy...	ORPHA:520
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon...	OMIM:619503
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Akt2-Related Familial Partial Lipodystrophy	Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me...	ORPHA:79085
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Flexion contracture, Synovitis, Uveitis, Enth...	ORPHA:85408
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Desbuquois Dysplasia 1	Microretrognathia, Joint laxity, Severe short stature, Short neck, Hyperlordosis, Narrow mouth, K...	OMIM:251450
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Anemia	ORPHA:100024
Trisomy 9P	Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Down...	ORPHA:236
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Synophrys, Short philtrum, Joint contracture of the 5th finger, Microdontia, Highly a...	ORPHA:363611
Emanuel Syndrome	Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Atrial septal defect, Join...	OMIM:609029
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive b...	OMIM:610253
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Van Den Bosch Syndrome	Recurrent respiratory infections, Scapular winging, Recurrent skin infections	ORPHA:3417
Gaucher Disease	Osteoarthritis, Cherry red spot of the macula, Hepatomegaly, Abnormal pericardium morphology, Hep...	ORPHA:355
Keratolytic Winter Erythema	Pustule, Hyperhidrosis	ORPHA:50943
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta...	OMIM:619351
Distal Duplication 18Q	Abnormal dental morphology, Camptodactyly of finger, Abnormal hair pattern, Micrognathia, Carious...	ORPHA:1716
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Brittle hair, Lipodystrophy, Abnormality of hair texture, Carious teeth, Coarse ...	OMIM:219200
Hurler-Scheie Syndrome	Inguinal hernia, Short stature, Camptodactyly of finger, Micrognathia, Joint stiffness, Contractu...	OMIM:607015
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Sparse scalp hair, Recurrent respiratory infections, Scapular winging, Bicuspi...	OMIM:150230
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Abnormal renal corticomedullary differentiation, Bradycardia, Pleural effusi...	OMIM:617397
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Gastroesophageal reflux, Esophagitis, Feeding difficulties	ORPHA:79350
Ectodermal Dysplasia-Blindness Syndrome	Recurrent respiratory infections, Cataract, Corneal dystrophy, Sclerocornea, Fine hair, Microcorn...	ORPHA:1806
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Corneal opacity, Pneumonia, Congenital abnormal hair pattern, Heart murmur, A...	ORPHA:1867
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Hepatomegaly, Patent ductus arteriosus, Diarrhea, Respiratory i...	ORPHA:1842
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Conjunctival hamartoma, Erythroderma	ORPHA:312
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S...	ORPHA:289176
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Neutropenia, Severe Congenital, X-Linked	Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio	OMIM:300299
Keppen-Lubinsky Syndrome	Tented upper lip vermilion, Lack of facial subcutaneous fat, Decreased serum leptin, Micrognathia...	OMIM:614098
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Pericar...	ORPHA:79126
Netherton Syndrome	Sparse scalp hair, Recurrent respiratory infections, Skin rash, Sparse eyelashes, Eczema, Malabso...	ORPHA:634
Hypomelanosis Of Ito	Alopecia, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Scoliosis	OMIM:300337
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Autosomal Erythropoietic Protoporphyria	Eczema, Microcytic anemia, Pruritus, Decreased liver function, Cirrhosis, Cholelithiasis	ORPHA:79278
Lymphatic Malformation 3	Recurrent skin infections	OMIM:613480
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Small for gestational age, Neutropenia, Bronchiectasis, Respiratory insufficiency, Aspirat...	OMIM:618253
15Q14 Microdeletion Syndrome	Inguinal hernia, Short stature, Abnormality of the dentition, Kyphosis, Cleft palate, Short philt...	ORPHA:261190
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Postnatal growth retardation, Thick lower lip vermilion,...	OMIM:246200
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis	OMIM:300718
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Failure to thrive in infancy, Diarrhea, Chronic diarrhea, Vasculitis, Le...	OMIM:617099
Cryptococcosis	Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis	OMIM:270150
Incontinentia Pigmenti	Delayed eruption of teeth, Alopecia, Short stature, Scarring, Eosinophilia, Conical tooth, Kyphos...	OMIM:308300
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Flexion contracture of finger, Failure to thrive, Lipoatrophy, Recurre...	OMIM:601812
Borjeson-Forssman-Lehmann Syndrome	Short stature, Kyphosis, Cryptorchidism, Obesity, Scoliosis, Delayed puberty, Scheuermann-like ve...	OMIM:301900
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Micrognathia, Synophrys, Low anterior hairline, Oligodontia, High palate, Short ...	OMIM:617061
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Compulsiv...	ORPHA:353284
Nephroblastoma	Weight loss, Neoplasm of the lung, Hypertension, Lymphadenopathy, Neoplasm of the liver	ORPHA:654
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Compulsiv...	ORPHA:353277
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Ruvalcaba Syndrome	Inguinal hernia, Dental crowding, Kyphosis, Cryptorchidism, Generalized hirsutism, Thin vermilion...	ORPHA:3121
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis	OMIM:200400
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce...	ORPHA:90186
19P13.12 Microdeletion Syndrome	Hyperactivity, Craniosynostosis, Short neck, Precocious puberty, Kyphosis, Cryptorchidism, Synoph...	ORPHA:254346
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, Cachexia, High, narrow palate, Rectal prolapse, P...	ORPHA:79076
Chops Syndrome	Curly hair, Chronic lung disease, Cataract, Gastroparesis, Thick hair, Ventricular septal defect,...	OMIM:616368
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Postnatal growth retardation, Decreased skull ossification, Cortical thickening of...	ORPHA:93324
Taurodontism	Taurodontia	OMIM:272700
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia	OMIM:620192
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia, Hypothermia	OMIM:614498
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Sparse scalp hair, Short stature, Decreased response to growth hormone...	OMIM:615866
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100080
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Short Stature, Developmental Delay, And Congenital Heart Defects	Ventricular septal defect, Patent ductus arteriosus, Uveitis, Developmental cataract, Atrial sept...	OMIM:617044
Ppoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth...	ORPHA:97278
Hereditary Hyperekplexia	Gastroesophageal reflux, Esophagitis, Hiatus hernia	ORPHA:3197
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Inguinal hernia, Failure to thrive, Short stature, Sparse ey...	OMIM:613026
Spastic Paraplegia 84, Autosomal Recessive	Crohn's disease	OMIM:619621
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Minimal change glomerulonephritis, Pulmonary embolism, Facial edema, Hype...	ORPHA:567546
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary nip...	ORPHA:1071
Limb-Mammary Syndrome	Absent lacrimal punctum, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Ab...	ORPHA:69085
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Chronic diarrhea, Bronchiectasis, Recurrent upper r...	OMIM:619446
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD...	OMIM:615607
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Anorexia, Hypersplenism, Thrombocytopen...	ORPHA:77259
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Postnatal gro...	OMIM:210900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short stature, Thrombocytopenia, Gingival overgrowth, Reticulocytopeni...	ORPHA:508542
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Limited elbow movement, Kyphosis, Synophrys, Retrognathia, Thick vermilion border...	OMIM:300280
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric...	OMIM:616812
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im...	OMIM:618063
Corneodermatoosseous Syndrome	Carious teeth, Severe short stature, Abnormal dental enamel morphology, Gingivitis	ORPHA:3194
Progeroid Short Stature With Pigmented Nevi	Cataract, Small for gestational age, Allergic rhinitis, Bicuspid aortic valve, Recurrent viral in...	OMIM:176690
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Furrow...	OMIM:614204
Congenital Myopathy 22A, Classic	Polyhydramnios, Tricuspid regurgitation, Bradycardia, Mildly elevated creatine kinase	OMIM:620351
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Patchy scleros...	OMIM:218400
Mohr Syndrome	Median cleft lip, Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla...	OMIM:252100
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Dental crowding, Short stature, Thrombocytopenia, Hir...	OMIM:620370
Lynch Syndrome 5	Neoplasm of the pancreas, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endomet...	OMIM:614350
Cockayne Syndrome Type 3	Dry hair, Mild postnatal growth retardation, Carious teeth, Splenomegaly, Kyphosis, Flexion contr...	ORPHA:90324
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Ankle flexion contracture, Micrognathia, Long eyelashes, Dysphagia, Abnormal repetit...	OMIM:617802
Hereditary Coproporphyria	Hyponatremia, Dark urine, Tachycardia, Abnormal circulating porphyrin concentration, Porphyrinuri...	ORPHA:79273
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutro...	OMIM:301078
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,...	ORPHA:95430
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu...	OMIM:243910
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Aicardi-Goutieres Syndrome 5	Flexion contracture, Chilblains, Thrombocytopenia	OMIM:612952
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too...	OMIM:150400
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Downslanted palpebral fissures, Cachexia	ORPHA:1438
Bullous Pemphigoid	Psoriasiform dermatitis, Recurrent infections, Eczema, Weight loss	ORPHA:703
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, High, narrow pal...	ORPHA:3051
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi...	OMIM:616037
Crisponi/Cold-Induced Sweating Syndrome 1	Kyphoscoliosis, Micrognathia, Carious teeth, Trismus, Short neck, Elbow flexion contracture, High...	OMIM:272430
Usmani-Riazuddin Syndrome, Autosomal Recessive	Epicanthus, High palate, Conjunctival hyperemia	OMIM:619548
Multiple Pterygium-Malignant Hyperthermia Syndrome	Inguinal hernia, Severe short stature, Exaggerated cupid's bow, Camptodactyly of finger, Narrow m...	ORPHA:2215
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Granuloma, Telangiectasia of the skin, Abnormality of neutr...	ORPHA:542592
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Thin upper lip vermilion, Elbow hypertrichosis, Joint hypermobility, Aggressive behavior, Carious...	OMIM:620191
Mucopolysaccharidosis Type 6	Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Splenomegaly, Kyphosis, Thick low...	ORPHA:583
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia, Lymphadenopathy, Stridor, Up...	ORPHA:142
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Hypohidros...	ORPHA:3157
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Failure to thrive in infancy, Neutr...	OMIM:612852
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Carious teeth...	ORPHA:2769
Elastosis Perforans Serpiginosa	Crusting erythematous dermatitis	ORPHA:79148
De Barsy Syndrome	Delayed eruption of teeth, Osteopenia, Inguinal hernia, Lipodystrophy, Short stature, Kyphoscolio...	ORPHA:2962
Hyperchlorhidrosis, Isolated	Hyponatremia, Hypernatremic dehydration, Hyperkalemia	OMIM:143860
Gm1-Gangliosidosis, Type I	Inguinal hernia, Severe short stature, Short neck, Joint stiffness, Splenomegaly, Kyphosis, Vacuo...	OMIM:230500
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Osteoporosis, Platyspondyly	ORPHA:2786
Ayme-Gripp Syndrome	Sparse scalp hair, Pericarditis, Nail dystrophy, Broad eyebrow	OMIM:601088
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis	ORPHA:66661
Hyperuricemia, Hprt-Related	Nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria	OMIM:300323
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Hyperlord...	ORPHA:3353
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Pruritus, Corneal erosion, Hypohidrosis, Erythroderma, Failure to thrive, Ec...	ORPHA:79394
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Vasculitis, Re...	OMIM:610984
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Synophrys, Pierre-Rob...	ORPHA:364577
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Eczema, Recurrent infections	OMIM:619157
Char Syndrome	Supernumerary nipple, Persistence of primary teeth, No permanent dentition, Symphalangism of the ...	ORPHA:46627
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ...	OMIM:613193
Paroxysmal Hemicrania	Palpebral edema, Rhinorrhea, Hypertension, Rhinitis, Conjunctival hyperemia, Ptosis	ORPHA:157835
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Proteinuria, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Hyperh...	ORPHA:263455
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Abnormal hair morphology, Weight loss, Premature graying of hair, Atherosclerosis	ORPHA:1979
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici...	OMIM:614935
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage	ORPHA:398189
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi...	ORPHA:226316
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Failure to thrive, Flexion contracture, Intrauterine growth retardation	OMIM:618237
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Dysphagia, Atrial septal defect, Hypoplastic spleen, Patent foramen ovale	ORPHA:89844
Cystinuria	Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia	ORPHA:214
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia	OMIM:141000
Acrofacial Dysostosis, Catania Type	Microretrognathia, Smooth philtrum, Inguinal hernia, Short stature, Abnormal hair pattern, Abnorm...	ORPHA:1786
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchi...	ORPHA:377
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Micrognat...	ORPHA:94068
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters	ORPHA:79403
Somatostatinoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated...	ORPHA:97283
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Short stature, Kyphosis, Obesity, Scoliosis	OMIM:616756
Mandibulofacial Dysostosis With Alopecia	Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hyp...	OMIM:616367
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100082
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Epicanthus, Pancytopenia, Skin rash, Small for gestational age, Atrial septal defec...	OMIM:277380
Lynch Syndrome 4	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm	OMIM:614337
Sialidosis Type 2	Inguinal hernia, Short stature, Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis, Umbili...	ORPHA:87876
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck...	ORPHA:93284
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Hyperactivity, Tented upper lip vermilion, Small ...	OMIM:619148
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Hatipoglu Immunodeficiency Syndrome	Anhidrosis, Failure to thrive, Pancytopenia, Recurrent herpes, Eczema, Asthma, Atopic dermatitis,...	OMIM:620331
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Hypospadias, Abnorma...	ORPHA:209905
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Intermittent hypothermia, Reduced circulating prola...	OMIM:223360
Relapsing Fever	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91547
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Eczema, Camptodactyly of f...	ORPHA:2907
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Micrognathia, Hirsutism, Gingival overgrow...	ORPHA:313855
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Chilblains, Splenomegaly, Vasculitis, Multiple gastr...	OMIM:225750
Elastoderma	Erysipelas, Eczema	ORPHA:228240
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Alopecia, Abnormal dental morphology, Abnormal dental enamel morpho...	ORPHA:2092
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short stature, Short neck, Hypoplasia of the odontoid pro...	OMIM:607326
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili...	OMIM:615508
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Osteoporosis, ...	OMIM:259450
Metatropic Dysplasia	Relatively short spine, Severe short stature, Kyphoscoliosis, Abnormal enchondral ossification, H...	OMIM:156530
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Vasculitis, Skin rash	ORPHA:889
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Cataract, Eczema, Microcytic anemia, Dysphagia, Failure to thrive,...	OMIM:612379
Idiopathic Localized Lipodystrophy	Pruritus, Inflammatory abnormality of the skin	ORPHA:90158
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Short stature, Absent pubertal growth spurt, Puberty and gonadal disorders, Kyphosis, Obesity, Do...	ORPHA:464282
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Myopathy, Centronuclear, 2	Hyperlordosis, Kyphosis, Flexion contracture, High palate, Scoliosis, Intrauterine growth retarda...	OMIM:255200
Glutathionuria	Reduced gamma-glutamyltransferase level, Asthma, Constipation, Eczema	OMIM:231950
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi...	ORPHA:199302
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Pancreatitis	OMIM:145980
Acquired Ichthyosis	Pruritus, Recurrent skin infections	ORPHA:454
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Osteoarthritis, Bronchiectasis, Small thenar eminence, Distal lower limb muscle...	OMIM:620080
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Skeletal muscle hypertrophy, Hypertension, Increased intramuscu...	OMIM:151660
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena...	ORPHA:2363
Lipodystrophy, Familial Partial, Type 5	Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Irregular menstruation, Diabe...	OMIM:615238
Primary Hepatic Neuroendocrine Carcinoma	Intrahepatic cholestasis with episodic jaundice, Elevated gamma-glutamyltransferase level, Elevat...	ORPHA:100085
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat...	ORPHA:2045
Grfoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth...	ORPHA:97261
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Pellagra-Like Syndrome	Cataract, Skin rash	OMIM:260650
Trisomy 20P	Micrognathia, Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced b...	ORPHA:261318
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Myoglobinuria, Ventricular tachycardia, Hyperkalemia, Prema...	ORPHA:423
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Carious teeth, Absent eyelashes, Cleft palate, Ev...	ORPHA:2316
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Acne, Hirsutism	OMIM:612847
Intellectual Disability-Strabismus Syndrome	Atrial septal defect, Epicanthus, Telecanthus, Failure to thrive, Decreased response to growth ho...	ORPHA:363528
Monosomy 22Q13.3	Hyperactivity, Sacral dimple, Dental crowding, Hair-pulling, Dental malocclusion, Obesity, Long e...	ORPHA:48652
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Exercise-induced rha...	ORPHA:284426
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Short stature, Micrognathia, Hype...	OMIM:618443
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Cachexia, Obesity, Hyperhidrosis, Constipati...	ORPHA:813
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Trichothiodystrophy 8, Nonphotosensitive	Eczema, Sparse eyebrow, Head titubation, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Atrioventricular block	OMIM:614407
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Thick eyebrow, Exaggerated cupid's bow, Fused teeth, High palate, Short ph...	OMIM:300896
Say-Barber-Miller Syndrome	Thoracic kyphoscoliosis, Short stature, Abnormality of the hairline, Craniosynostosis, Micrognath...	ORPHA:3132
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Intestinal Dysmotility Syndrome	Projectile vomiting, Diarrhea, Weight loss, Decreased intestinal transit time, High palate, Failu...	OMIM:620045
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor...	ORPHA:464321
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands	OMIM:300291
Estrogen Resistance Syndrome	Osteopenia, Abnormality of the pubic hair, Increased circulating gonadotropin level, Absence of s...	ORPHA:785
Blepharo-Cheilo-Odontic Syndrome	Abnormal hair quantity, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Distichiasis	ORPHA:1997
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Thrombocytopenia, Patent ductus...	OMIM:603467
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Premature graying of hair, Early onset of sexual maturation, Glu...	OMIM:194050
Osteogenesis Imperfecta, Type Vii	Osteopenia, Short stature, Recurrent fractures, Rhizomelia, Multiple prenatal fractures, Decrease...	OMIM:610682
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Intrinsic hand muscle atrophy, Dysphagia	OMIM:304700
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Hypohidrosis, Eczema, Sparse body hair	ORPHA:1810
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Focal Dermal Hypoplasia	Brittle hair, Congenital diaphragmatic hernia, Oligodontia, Sparse hair, Spina bifida occulta, Jo...	OMIM:305600
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension...	OMIM:300845
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Micrognathia, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft of the upper lip	ORPHA:77300
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615444
Panbronchiolitis, Diffuse	Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough	OMIM:604809
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Hyperactivity, Large for gestation...	ORPHA:77301
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh...	OMIM:619827
Williams Syndrome	Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C...	ORPHA:904
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short stature, Micrognathia, Abnormal repetitive mannerisms, Kyphosis, Joint hyperfle...	ORPHA:2479
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida	ORPHA:2476
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Otitis media, Shallow orbits, Patent foramen oval...	ORPHA:576
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Allergic rhinitis, Absent facial hair, Abnormalit...	ORPHA:90368
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Eczema, Pruritus, Cholelithiasis, Hepatic failure	OMIM:177000
Glucocorticoid Resistance, Generalized	Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s...	OMIM:615962
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Low anterior hairline, D...	ORPHA:955
Gastrocutaneous Syndrome	Upslanted palpebral fissure, Synophrys, Peptic ulcer, Hiatus hernia	ORPHA:2069
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Rubinstein-Taybi Syndrome	Failure to thrive in infancy, Short stature, Highly arched eyebrow, Abnormality of the dentition,...	ORPHA:783
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Tachycardia, Apnea, Episodic tachypnea, Hy...	ORPHA:79264
Srd5A3-Cdg	Decreased response to growth hormone stimulation test, Microcytic anemia, Abnormal hair morpholog...	ORPHA:324737
Stickler Syndrome, Type I	Micrognathia, Joint stiffness, Kyphosis, Osteoarthritis, Submucous cleft hard palate, Pierre-Robi...	OMIM:108300
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Eczema, Highly arched eyebrow, Ventricular septal defect, Synophrys, Recur...	OMIM:617751
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Abnormality of the spleen, Anorectal anomaly, Tracheoesophageal ...	ORPHA:1834
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua...	ORPHA:70
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida, Mitral valve prolapse	OMIM:211960
Pachyonychia Congenita	Natal tooth, Alopecia, Angular cheilitis, Nail dystrophy, Advanced eruption of teeth, Failure to ...	ORPHA:2309
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate, Short philtrum, ...	OMIM:617337
Lateral Meningocele Syndrome	Vertebral fusion, Inguinal hernia, Dental crowding, Joint hypermobility, Short stature, Micrognat...	OMIM:130720
Shashi-Pena Syndrome	Thin upper lip vermilion, Hypoglycemia, Highly arched eyebrow, Kyphosis, Synophrys, Osteoporosis,...	OMIM:617190
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Apla...	ORPHA:129
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog...	OMIM:606612
Central Precocious Puberty In Male	Acne, Abnormality of secondary sexual hair	ORPHA:649929
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis, Recurrent gastroenteritis	OMIM:618648
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Menometrorrhagia, Abnormal dental enamel morphology, Anorexia, Weight l...	ORPHA:79430
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Osteopenia, Rhizomelia, Campto...	OMIM:166250
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Osteomyelitis, Cerebral hemorrhage, Hepatosplenomegaly, Panuveitis, Panniculiti...	OMIM:301081
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Vasculitis, Diarr...	ORPHA:343
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Psoriasiform dermatitis, Blepharitis, Developmental cataract	OMIM:616834
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Neonatal respiratory distress, Skin rash, Small for gestational ag...	ORPHA:69665
Pseudoleprechaunism Syndrome, Patterson Type	Diabetes mellitus, Abnormal odontoid process morphology, Kyphoscoliosis, Abnormal ethmoid bone mo...	ORPHA:2976
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Otopalatodigital Syndrome, Type I	Omphalocele, Short stature, Selective tooth agenesis, Absent frontal sinuses, Capitate-hamate fus...	OMIM:311300
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hyperextensibi...	OMIM:254090
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level	OMIM:610768
Eec Syndrome	Short stature, Decreased response to growth hormone stimulation test, Abnormal dental enamel morp...	ORPHA:1896
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Abnormal...	ORPHA:70588
Geroderma Osteodysplasticum	Mandibular prognathia, Osteopenia, Beaking of vertebral bodies, Hyperextensibility of the finger ...	OMIM:231070
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypothermia, Lacticaciduria, Methylmalonic aciduria, Hyperhidrosis, Hyperglycinemia, Hypertaurinemia	OMIM:245400
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Carious teeth, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Premature ...	OMIM:616353
Solitary Fibrous Tumor	Low back pain, Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoi...	ORPHA:2126
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype...	OMIM:620211
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Elevated hepatic transaminase, Erythema no...	OMIM:613471
Ramon Syndrome	Delayed eruption of teeth, Short stature, Kyphosis, Gingival fibromatosis, Narrow palate, Scolios...	OMIM:266270
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ...	ORPHA:276608
Alström Syndrome	Abnormality of dental color, Thoracic scoliosis, Decreased response to growth hormone stimulation...	ORPHA:64
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per...	ORPHA:1775
Spontaneous Periodic Hypothermia	Skin rash, Diarrhea, Hyperhidrosis, Arrhythmia, Abnormal pattern of respiration	ORPHA:29822
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Inguinal hernia, Dental crowding, Micrognathia, Short neck, High, narr...	ORPHA:2789
Gorham-Stout Disease	Torticollis, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Lymphangioma, Pleural e...	ORPHA:73
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Hypospadias, Bradycardia	OMIM:619272
Dubowitz Syndrome	Abnormality of neutrophils, Micrognathia, Low anterior hairline, High palate, Spina bifida occult...	ORPHA:235
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis...	ORPHA:659
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Skin rash, Low posterior hairline, Astigmatism, Long eyelashes, High palate, Downslanted palpebra...	OMIM:617523
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
Acrocraniofacial Dysostosis	Short stature, Craniosynostosis, Micrognathia, Cleft palate, Abnormal form of the vertebral bodie...	ORPHA:949
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypoplasia of penis, Cardiac arrest, Hypothermia, Cryptorchidism, Arrhythmia	ORPHA:168593
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Everted upper lip vermilion, Camptodactyly of finger, Joint hypermobility, Micrognathia, Highly a...	OMIM:619951
Peritoneal Cystic Mesothelioma	Peritonitis, Constipation, Weight loss	ORPHA:168816
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Fountain Syndrome	Craniofacial hyperostosis, Thick eyebrow, Short stature, Kyphosis, Synophrys, Thick lower lip ver...	ORPHA:3219
Coffin-Siris Syndrome	Low anterior hairline, Papillary thyroid carcinoma, Hernia, Intrauterine growth retardation, Join...	ORPHA:1465
Isovaleric Acidemia	Cerebellar hemorrhage	OMIM:243500
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100075
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Bile duct prol...	OMIM:611134
Cleidocranial Dysplasia 2	Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De...	OMIM:620099
Attrv30M Amyloidosis	Cardiomegaly, Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Arrhyt...	ORPHA:85447
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal size of the palpebral fissures, Eczema, Highly arched eyebrow, Bicuspid aortic valve, Ve...	ORPHA:500159
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Function...	ORPHA:1333
Adiposis Dolorosa	Recurrent skin infections, Telangiectasia of the skin, Sparse axillary hair, Sparse pubic hair, D...	ORPHA:36397
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Cough, Splenomegaly, Thrombocytopenia, Stridor, Gastroesophageal reflux, Dys...	OMIM:230900
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Cachexia, Ileus, Constipation, Ptosis	ORPHA:52503
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab...	ORPHA:791
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Hypertension...	OMIM:617595
Chediak-Higashi Syndrome	Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Foot dorsiflexor weakness, Iri...	OMIM:214500
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Inguinal hernia, Lumbar hyperlordosis, Short stature, Ovoid vertebral ...	OMIM:253200
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Short stature, Micrognathia, Crypt...	ORPHA:85201
Pulmonary Arteriovenous Malformation	Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough,...	ORPHA:2038
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea, Ptosis	ORPHA:3217
Mucopolysaccharidosis, Type Vii	Short neck, Flexion contracture, Coarse hair, Widely spaced teeth, Anterior beaking of lumbar ver...	OMIM:253220
Cowden Syndrome 5	Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Furrowed tongue,...	OMIM:615108
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Marden-Walker Syndrome	Inguinal hernia, Micrognathia, Short neck, High, narrow palate, Kyphosis, Postnatal growth retard...	OMIM:248700
Baralle-Macken Syndrome	High, narrow palate, Kyphosis, Obesity, Hirsutism	OMIM:619255
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Short stature, Recurrent fractures, Macular scar, Kyp...	OMIM:239000
W Syndrome	Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormality of the scalp hair...	ORPHA:2804
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Decreased liver function, Hepa...	ORPHA:415
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Adrenal...	ORPHA:43
Autosomal Recessive Spondylocostal Dysostosis	Inguinal hernia, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger,...	ORPHA:2311
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Pericardial effusion, Chro...	ORPHA:90362
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Short stature, Splenomegaly, Flexion contractu...	OMIM:301072
Cowden Syndrome 1	Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Furrowed tongue,...	OMIM:158350
Pityriasis Rubra Pilaris	Pustule, Pruritus, Eczema, Erythroderma	ORPHA:2897
Tempi Syndrome	Intracranial hemorrhage, Telangiectasia	ORPHA:284227
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis, Arrhythmia	OMIM:250220
Microphthalmia, Syndromic 9	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic her...	OMIM:601186
Medullary Thyroid Carcinoma	Diarrhea, Primary hyperparathyroidism, Hyperhidrosis, Neoplasm of the lung, Abnormal liver parenc...	ORPHA:1332
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Reduced bone mineral density, Lobulated tongue, Coarse hair, High pal...	ORPHA:2750
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
2P15P16.1 Microdeletion Syndrome	High palate, Sparse eyebrow, Scoliosis, Narrow mouth, Retrognathia, Smooth philtrum, Inguinal her...	ORPHA:261349
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
H Syndrome	Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Histiocytosis, Malabsorption, Mic...	ORPHA:168569
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intest...	ORPHA:100078
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric...	OMIM:619167
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Facial telangiectasia, Attent...	OMIM:620141
De Sanctis-Cacchione Syndrome	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion	OMIM:278800
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Recurrent viral infect...	OMIM:617443
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Telecanthus, Camptodactyly of finger, Cachexia	ORPHA:2774
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Reduced bone mineral density, Glossoptosis, Sparse hair, Hypot...	ORPHA:2108
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Duplication Of The Pituitary Gland	Thoracic scoliosis, Abnormal odontoid process morphology, Abnormality of joint mobility, Short st...	ORPHA:314621
Hip Dysplasia, Beukes Type	Abnormal ossification involving the femoral head and neck, Kyphosis, Osteoarthritis, Abnormality ...	ORPHA:2114
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Candidiasis, Familial, 8	Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Onychomycosis, Blepharitis	OMIM:615527
Peters-Plus Syndrome	Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Short ne...	OMIM:261540
Sandhoff Disease	Splenomegaly, Failure to thrive, Kyphosis	ORPHA:796
Kilquist Syndrome	Mandibular prognathia, Wide mouth, Hypoplasia of teeth	OMIM:619080
2Q37 Microdeletion Syndrome	Sparse scalp hair, Eczema, Highly arched eyebrow, Supernumerary nipple, Sparse eyebrow, Pyloric s...	ORPHA:1001
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Kyphosis, Deep philtrum, Cryptorch...	ORPHA:404440
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Thrombocytopenia, Leukocytosis, Dyspnea, Incr...	ORPHA:90060
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Short stature, Sagittal cranio...	OMIM:614188
Lipoid Proteinosis	Recurrent respiratory infections, Acne, Pustule, Alopecia of scalp, High palate, Dysphagia, Micro...	ORPHA:530
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Large clumps of pigment irregularly distributed along hair s...	ORPHA:167
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Brachydactyly, Type E1	Moderately short stature, Multiple impacted teeth	OMIM:113300
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Grubben-De Cock-Borghgraef Syndrome	Eczema	ORPHA:2101
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ...	OMIM:615290
Carpenter Syndrome 2	Craniosynostosis, Short neck, Carious teeth, High, narrow palate, Bilateral cryptorchidism, Crypt...	OMIM:614976
Familial Peripheral Male-Limited Precocious Puberty	Abnormal hair morphology, Acne	ORPHA:3000
Dubowitz Syndrome	Delayed eruption of teeth, Sparse scalp hair, Inguinal hernia, Hyperactivity, Aplastic anemia, Sa...	OMIM:223370
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ...	OMIM:608836
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ...	OMIM:619975
Hurler Syndrome	Inguinal hernia, Short stature, Short neck, Joint stiffness, Splenomegaly, Hypoplasia of the odon...	OMIM:607014
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Proximal tubulopathy, Polyuria, Dehydration	OMIM:560000
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Hemivertebrae, Low anterior hairline, Downturned cor...	ORPHA:79500
Arthrogryposis, Distal, Type 5	Short stature, Limited wrist extension, Kyphosis, Distal arthrogryposis, High palate, Scoliosis, ...	OMIM:108145
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Kyphosis, Growth delay, Macroglossia, Everted ...	ORPHA:261144
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Polyphagia, Decreased body weight	OMIM:620085
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M...	ORPHA:1908
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Osteopenia, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Abnormality ...	OMIM:271510
Leukocyte Adhesion Deficiency Type Ii	Severe periodontitis, Microcytic anemia, Low anterior hairline, Hepatomegaly, Chronic lymphocytic...	ORPHA:99843
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Triploidy	Hepatomegaly, Polyhydramnios, Abnormality of the pancreas, Hydrocephalus, Meningocele, Abnormalit...	ORPHA:3376
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t...	OMIM:606763
Thymic Carcinoma	Palpebral edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Hyperhidrosis, Wei...	ORPHA:99868
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,...	ORPHA:294023
Fumarase Deficiency	Necrotizing enterocolitis, Failure to thrive, Cutaneous leiomyoma, High palate, Hepatic failure, ...	OMIM:606812
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Ptosis, Telecanthus, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal ...	ORPHA:314655
Orofaciodigital Syndrome Iii	Kyphosis, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Cystic Fibrosis	Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Abnormality of the li...	ORPHA:586
Chromosome 2Q37 Deletion Syndrome	Eczema, Highly arched eyebrow, Obesity, Upslanted palpebral fissure, Narrow palpebral fissure, Su...	OMIM:600430
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Isaacs Syndrome	Calf muscle hypertrophy, Weight loss, Hyperhidrosis	ORPHA:84142
Distal Triplication 15Q	Craniosynostosis, Micrognathia, Large for gestational age, Kyphosis, Birth length greater than 97...	ORPHA:314588
Hydroxykynureninuria	Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ...	ORPHA:79155
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Peeling Skin Syndrome 1	Brittle hair, Eosinophilia, Pruritus, Asthma, Palmoplantar hyperhidrosis, Nail dystrophy, Erythro...	OMIM:270300
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Flexion contracture, Scolios...	OMIM:618484
Familial Mediterranean Fever, Autosomal Dominant	Peritonitis, Pleuritis, Erysipelas	OMIM:134610
Cirrhosis, Familial	Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Increased level of prop...	OMIM:215600
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperactivity, Reduced intraabdominal adipose tissue, Insuli...	ORPHA:363400
Castleman Disease	Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, F...	ORPHA:160
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Widened atrophic scar, Micrognathia, High palate, Periodontitis, ...	ORPHA:536532
O'Donnell-Luria-Rodan Syndrome	Aggressive behavior, Cryptorchidism, Kyphosis, Self-injurious behavior, Skin-picking	OMIM:618512
Dermatitis Herpetiformis	Pruritus, Microcytic anemia, Eczema, Malabsorption	ORPHA:1656
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Micrognathia, Abnormal hair pattern, Thrombocytopenia, Kyphosis, Cryptorch...	ORPHA:261250
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Dental malocclusion, High palate, Malar flattening, Retrognathia, Bifid uvula	OMIM:601552
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Omphalocele, Inguinal hernia, Thin upper lip vermilion, Failure to thr...	OMIM:247200
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux, Dehydration, Hypokalemia, Increased serum bile acid ...	OMIM:619377
Glucagonoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated...	ORPHA:97280
Cowden Syndrome 6	Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Furrowed tongue,...	OMIM:615109
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Lymphadenopathy, Recurr...	OMIM:617827
Fucosidosis	Lipoatrophy, Abnormality of the dentition, Kyphosis, Anterior beaking of lumbar vertebrae, Failur...	ORPHA:349
Marfan Syndrome	Pulmonary artery dilatation, Skeletal muscle atrophy, Mitral valve calcification, Arthralgia/arth...	ORPHA:558
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, T lymphocytopenia, Abnormal...	ORPHA:508533
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Myopathy, In...	OMIM:185070
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Severe pe...	ORPHA:678
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Cutaneous mastocytosis, Cardiorespiratory arrest, Erythroderma	ORPHA:280785
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia, Increased total bilirubin, Abnormal urinary color	ORPHA:90037
17Q23.1Q23.2 Microdeletion Syndrome	Atrial septal defect, Epicanthus, Highly arched eyebrow, Dyspnea, Patent ductus arteriosus, Conge...	ORPHA:261279
Wrinkly Skin Syndrome	Delayed eruption of teeth, Osteopenia, Inguinal hernia, Lipodystrophy, Short stature, Kyphoscolio...	ORPHA:2834
Colonic Atresia	Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic...	ORPHA:1198
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Hyp...	OMIM:607944
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit...	ORPHA:234
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Micrognathia, Short neck, Abnormal form of the vertebral bodies,...	ORPHA:818
Trisomy 18	Atrial septal defect, Epicanthus, Cataract, Ventricular septal defect, Camptodactyly of finger, C...	ORPHA:3380
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia	ORPHA:40366
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop...	ORPHA:54595
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Multiple joint contractures, Micrognathia, Kyphosis, Flexion contracture, Scoliosi...	OMIM:618291
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Lipodystrophy, Short stature, Thick hair, Carious teeth, Postnatal growth retard...	ORPHA:357074
Tuberous Sclerosis 1	Dental enamel pits, Precocious puberty, Gingival fibromatosis, Attention deficit hyperactivity di...	OMIM:191100
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Tachycardia, Renal insufficiency, Restlessness, Urinary incontinence, D...	ORPHA:79276
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde...	ORPHA:556
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate	ORPHA:90283
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphrag...	ORPHA:2847
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Hypogonadism, Decreased testicular size, Joint hyperflexibility	ORPHA:1875
Lig4 Syndrome	Hepatomegaly, Epicanthus, Telecanthus, Telangiectasia of the skin, Pancytopenia, Malabsorption, L...	ORPHA:99812
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Orthostatic hypotension, Cataract, Spontaneous pneumothorax, Small for gestati...	OMIM:606721
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Sialidosis Type 1	Short stature, Splenomegaly, Kyphosis, Thick lower lip vermilion, Abnormal form of the vertebral ...	ORPHA:812
Familial Benign Copper Deficiency	Early balding, Acne, Anemia	ORPHA:1551
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi...	ORPHA:324636
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Dental crowding, Highly arched eyebrow, Micrognathia, Kyphosi...	OMIM:619005
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Prolidase Deficiency	Hepatomegaly, Recurrent respiratory infections, Recurrent cystitis, Pruritus, Splenomegaly, Crust...	ORPHA:742
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re...	OMIM:620197
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypothermia, 2-ethylhydracylic aciduria	OMIM:610006
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Pruritus, Respiratory insufficien...	ORPHA:2135
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Cryptorchidism, High palate, Short philtrum, Attention deficit hyperactivity disorder, ...	OMIM:615433
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Primary Erythromelalgia	Recurrent respiratory infections, Leukemia, Vasculitis	ORPHA:90026
Developmental Malformations-Deafness-Dystonia Syndrome	Short stature, Kyphosis, Orofacial cleft, Macroglossia, Scoliosis, Dysphagia	ORPHA:79107
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Micrognathia, Spinal ri...	ORPHA:2062
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l...	OMIM:615524
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Micrognathia, Short neck, High, narrow palate, Synophrys, Downtu...	OMIM:122470
Complement Component 4A Deficiency	Vasculitis, Glomerulonephritis	OMIM:614380
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Abnormal heart morpho...	ORPHA:79284
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Small for gestational age, Ventricular septal defect, Flexion cont...	ORPHA:79243
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Du...	ORPHA:2470
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi...	ORPHA:93357
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Short neck, Flexion contracture, Irregular vertebral endplates, High palat...	OMIM:143095
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Bicuspid aortic valve, Eczema, Chronic constipation, Gastroesophageal reflu...	OMIM:619721
Mgat2-Cdg	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Dental crowding, Abnormal...	ORPHA:79329
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Taurodonti...	ORPHA:3214
Porphyria Variegata	Hyponatremia, Tachycardia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chro...	ORPHA:79473
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Failure to thrive, Short stature, Recurrent fractures, Persistence of primary teeth...	ORPHA:2785
Congenital Fiber-Type Disproportion Myopathy	Flexion contracture, Knee flexion contracture, High palate, Aspiration pneumonia, Foot dorsiflexo...	ORPHA:2020
Distal Duplication 5Q	Short stature, Craniosynostosis, Micrognathia, Carious teeth, Cryptorchidism, Thin vermilion bord...	ORPHA:96097
Glycerol Kinase Deficiency	Small for gestational age, Chronic pancreatitis, Myopathy, Adrenal insufficiency, Muscular dystro...	OMIM:307030
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy...	ORPHA:388
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Pancreatitis	ORPHA:405
Atelis Syndrome 2	Sacral dimple, Micrognathia, Diastema, Thrombocytopenia, Kyphosis, Elevated circulating thyroid-s...	OMIM:620185
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpitu...	ORPHA:91351
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Esophageal stricture, Crusting erythematous dermatitis, Telangiectasia, Dystrophic fingernails, D...	ORPHA:158673
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Lipoatrophy, Cranio...	OMIM:616914
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Vertebral segmentation defect, Exaggerate...	OMIM:312870
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis	OMIM:608189
Pitt-Hopkins Syndrome	Supernumerary nipple, Hiatus hernia, Aggressive behavior, Short neck, Postnatal growth retardatio...	ORPHA:2896
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure...	OMIM:154230
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Bruck Syndrome	Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoli...	ORPHA:2771
Trisomy 13	Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, High, narrow palate,...	ORPHA:3378
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti...	OMIM:613673
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cataract, Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Flex...	OMIM:616007
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Acne, Frontal balding, Synophrys, Obesity, Cleft palate, Facial hirsutism, High an...	ORPHA:247768
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Inguinal hernia, Osteopenia, Short stature, Joint h...	OMIM:278250
Degcags Syndrome	Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Premature graying of hair, Leukopeni...	OMIM:619488
Koolen-De Vries Syndrome	High palate, Widely spaced teeth, Vertebral fusion, Hyperactivity, Short stature, Cleft upper lip...	OMIM:610443
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Hyperextensibility of the finger joints, Kyphosis, Disproportionate tall s...	OMIM:609008
Adenohypophysitis	Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating ...	ORPHA:95512
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,...	OMIM:135500
Acral Peeling Skin Syndrome	Eczema	ORPHA:263534
22Q11.2 Deletion Syndrome	Micrognathia, Short neck, Hypoplasia of the thymus, Short philtrum, Hypothyroidism, Hypoparathyro...	ORPHA:567
Micro Syndrome	Short stature, Micrognathia, Joint stiffness, Kyphosis, Cryptorchidism, High palate, Short philtr...	ORPHA:2510
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v...	ORPHA:99104
Gastrocutaneous Syndrome	Peptic ulcer, Hiatus hernia	OMIM:137270
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Typical Nemaline Myopathy	Short neck, Micrognathia, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, High pal...	ORPHA:171436
Microgastria-Limb Reduction Defect Syndrome	Failure to thrive, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal a...	ORPHA:2538
Mucopolysaccharidosis Type 3	Adenoiditis, Cardiomegaly, Synophrys, Flexion contracture, Atrioventricular block, Coarse hair, O...	ORPHA:581
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Recurrent bacterial infections, Eczematoid dermatitis, Absent circulating ...	OMIM:619693
Diamond-Blackfan Anemia 7	Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Esophagitis, Neutropenia, Rec...	OMIM:612562
Hermansky-Pudlak Syndrome 9	Leukopenia, Recurrent skin infections, Thrombocytopenia, Ocular albinism	OMIM:614171
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir...	ORPHA:60025
Estrogen Resistance	Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia...	OMIM:615363
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Micrognathia, Kyphosis, Non-midline cleft lip, Cryptorchidism, C...	ORPHA:2075
Pachyonychia Congenita 2	Natal tooth, Sparse scalp hair, Dry hair, Angular cheilitis, Sparse eyebrow, Nail dystrophy, Oral...	OMIM:167210
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased serum testosterone concentration, Hypospadias, Hypergonadotropic hypogonadism, Elevated...	ORPHA:90796
Immunodeficiency 96	Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Recurrent infec...	OMIM:619774
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc...	ORPHA:1302
Orofaciodigital Syndrome Ix	High palate, Hamartoma, Recurrent aspiration pneumonia, Cleft palate	OMIM:258865
Masa Syndrome	Kyphosis, Short stature, Hyperlordosis	OMIM:303350
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Obesi...	OMIM:618493
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Severe short stature, Abnor...	ORPHA:93314
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Anal stenosis, Glioma, Rhabd...	OMIM:251260
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidism,...	OMIM:617577
Odontomicronychial Dysplasia	Premature eruption of permanent teeth, Short nail	OMIM:601319
Familial Tumoral Calcinosis	Calcification of muscles, Hepatomegaly, Skin rash, Splenomegaly, Hyperhidrosis	ORPHA:53715
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Short stature, Craniosynostosis, Kyphosis, Contracture of the proximal ...	OMIM:618050
Loeys-Dietz Syndrome 3	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Scoliosis, Uterine p...	OMIM:613795
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo...	OMIM:605373
Hennekam Syndrome	Delayed eruption of teeth, Lymphopenia, Abnormal dental morphology, Abnormal oral mucosa morpholo...	ORPHA:2136
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Failure to thrive, Esophageal stenosis, Recurrent skin infections, Anal ...	ORPHA:89842
Occipital Horn Syndrome	Recurrent urinary tract infections, Gastroparesis, Thick hair, Hiatus hernia, High, narrow palate...	ORPHA:198
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,...	ORPHA:1120
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia, Oral-pharyngeal dysphagia	ORPHA:221098
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Roifman-Chitayat Syndrome	Arthritis, Lacrimal duct stenosis, Pneumonia	OMIM:613328
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Kyphosis, Low anterior hairline, Dysphagia, Intrauterine growth retardation	OMIM:619909
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Beaking of vertebral bodies, Lumbar hyperlordosis, Short neck, Multicentri...	OMIM:223800
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Moyamoya phenomenon	ORPHA:401986
Erythema Elevatum Diutinum	Skin rash, Vasculitis in the skin	ORPHA:90000
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Morgagni-Stewart-Morel Syndrome	Acne, Osteoarthritis, Obesity, Hypertension, Hypothyroidism, Hirsutism	ORPHA:77296
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Failure to thrive, Abnormal dental morphology, Micrognathia, Aggressiv...	ORPHA:369950
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Neonatal res...	ORPHA:221139
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm...	ORPHA:293978
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Joint hypermobility, Short ...	OMIM:300990
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ...	OMIM:168000
Lelis Syndrome	Mandibular prognathia, Yellow nails, Carious teeth, Absent lower eyelashes, Furrowed tongue, Hypo...	ORPHA:140936
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Recurrent infections, Weight loss	ORPHA:704
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contractur...	ORPHA:3042
Gapo Syndrome	Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, High, narrow palate, Thick lower lip ve...	OMIM:230740
Fetal Gaucher Disease	Intracranial hemorrhage	ORPHA:85212
Congenital Disorder Of Glycosylation, Type Il	Short neck, Kyphosis, Hepatosplenomegaly, Wide mouth, Long philtrum, Failure to thrive	OMIM:608776
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Carious teeth, Osteoporosis, ...	OMIM:224230
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Failure to thrive in infancy, Hyperlordosis, High, narrow palate, Kyphosis, Thick l...	OMIM:162300
Lethal Acantholytic Erosive Disorder	Natal tooth, Absent eyebrow, Absent eyelashes, Cleft palate, Congenital alopecia totalis, Camptod...	ORPHA:158687
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Joint laxity, Small for gestational age, Short stature, Kyphoscoliosis, Kyphosis, Delayed epiphys...	ORPHA:93360
Encephalitis Lethargica	Urinary incontinence, Bradycardia	ORPHA:83600
Primrose Syndrome	Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion...	OMIM:259050
Noonan Syndrome 14	Curly hair, Short stature, Short neck, Sparse eyebrow, High, narrow palate, Kyphosis, Cryptorchid...	OMIM:619745
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Pruritus, Splenomegaly, Hyperh...	ORPHA:71493
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, F...	ORPHA:85410
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Failure to thrive, Osteoporosis, Scoliosis	OMIM:618234
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Diarrhea, Vasculitis, Skin rash	OMIM:601979
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Congenital Disorder Of Glycosylation, Type Ih	Patent ductus arteriosus, Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Vitreous hemorrhage, Uveitis, Posterior retinal neovascula...	OMIM:193235
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Opitz Gbbb Syndrome	Omphalocele, Natal tooth, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Microg...	ORPHA:2745
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Dental crowding, Delayed eruption of primary teeth, Aggressive behavio...	OMIM:617799
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Hypertension, Chronic pancreatitis	OMIM:613159
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Intrauterine growth retardation	OMIM:603194
Menkes Disease	Intracranial hemorrhage	OMIM:309400
Singleton-Merten Syndrome 1	Osteopenia, Thin upper lip vermilion, Short stature, Hypoplasia of the maxilla, Carious teeth, Os...	OMIM:182250
Heart Defects-Limb Shortening Syndrome	Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom...	ORPHA:1354
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth, Sparse or absent eyelashes, Breast aplasia, Hypoplastic ni...	ORPHA:1231
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Thoracic he...	OMIM:268310
Gjc2-Related Late-Onset Primary Lymphedema	Abnormal lymphatic vessel morphology, Hypoplasia of lymphatic vessels, Recurrent skin infections,...	ORPHA:568051
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I...	OMIM:223900
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi...	ORPHA:177907
Multiple Myeloma	Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Nephrot...	ORPHA:29073
Weismann-Netter Syndrome	Severe short stature, Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral ...	ORPHA:3344
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Bilate...	OMIM:602535
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Broad eyebrow, Tented upper lip vermilion, Highly arched eyebrow, Aggre...	OMIM:619244
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity, Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubine...	OMIM:609727
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Anterior pituitary hypoplasia, Micrognathia, Synophrys, Low anterior hairl...	OMIM:619841
1P36 Deletion Syndrome	Abnormality of the spleen, Abnormal repetitive mannerisms, Hypothyroidism, Generalized hirsutism,...	ORPHA:1606
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Omphalocele, Anterior concavity of thoracic ...	OMIM:309350
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Hypospadias, Adrenal gland agenesis, Oligohydramnios	OMIM:611812
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophi...	ORPHA:33226
3C Syndrome	Inguinal hernia, Short stature, Adrenal hypoplasia, Micrognathia, Short neck, High, narrow palate...	ORPHA:7
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout...	ORPHA:1507
Solitary Rectal Ulcer Syndrome	Anal fissure, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipation, Bloody mucoid...	ORPHA:209964
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Recurrent inf...	ORPHA:204
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Macroglossia, Cardiomyopathy, Decreased beta-galactosidase activity, Aspirati...	ORPHA:79255
Proteus Syndrome	Neoplasm of the thymus, Abnormal form of the vertebral bodies, Generalized hirsutism, Abnormal de...	ORPHA:744
Buerger Disease	Vasculitis, Hyperhidrosis	ORPHA:36258
Combined Oxidative Phosphorylation Deficiency 37	Hypothermia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Bile duct proliferation, Hyperalaninem...	OMIM:618329
Tick-Borne Encephalitis	Elevated hepatic transaminase, Skeletal muscle atrophy, Facial palsy, Thrombocytopenia, Leukocyto...	ORPHA:297
Marinesco-Sjogren Syndrome	Hypergonadotropic hypogonadism, Short stature, Kyphosis, Flexion contracture, Scoliosis, Failure ...	OMIM:248800
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Velopharyngeal insufficiency, Blue irides, Fine hair, Abnormal h...	OMIM:300978
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Pmm2-Cdg	Elevated hepatic transaminase, Respiratory distress, Pericarditis, Angina pectoris, Elevated circ...	ORPHA:79318
Cutaneous Collagenous Vasculopathy	Pruritus, Skin rash, Diffuse telangiectasia	ORPHA:280779
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Sporadic Infantile Bilateral Striatal Necrosis	Recurrent streptococcus pneumoniae infections, Recurrent upper respiratory tract infections, Titu...	ORPHA:225147
Gillessen-Kaesbach-Nishimura Syndrome	Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Frontotemporal hypertrichosis, Flexion ...	OMIM:263210
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Impulsivity, Aggressive behavior, Overweight, Kyphosis, Cryptorchidism, Flexion co...	ORPHA:500055
Woodhouse-Sakati Syndrome	Osteopenia, Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth...	ORPHA:3464
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Abnormal circulating enzyme concentration or activity, Pancytopenia, Catara...	ORPHA:309282
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee...	ORPHA:3208
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia, Increased total bilirubin	ORPHA:90036
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co...	OMIM:180700
Rheumatoid Arthritis	Digital flexor tenosynovitis, Vasculitis, Rheumatoid arthritis, Weight loss	OMIM:180300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Micrognathia, Kyphosis, Hirsutism, Dysphagia, Congenital hypothyroidi...	OMIM:617527
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:603373
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Micrognathia, Short neck, Kyph...	ORPHA:958
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Congenital diaphragmatic hernia, Highly arched eyebrow, Nail dystrophy, ...	OMIM:300887
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr...	ORPHA:99901
Chronic Hiccup	Abnormality of the diaphragm, Weight loss	ORPHA:396
Parkes Weber Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac...	ORPHA:90307
Blomstrand Lethal Chondrodysplasia	Natal tooth, Increased bone mineral density, Rhizomelia, Protruding tongue, Micrognathia, Platysp...	ORPHA:50945
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat...	ORPHA:980
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate...	ORPHA:90003
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Shallow orbits, Gastroesophag...	ORPHA:73230
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Eczema	ORPHA:1525
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Increased skull ossification, Cra...	OMIM:618476
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Low anterior hairline, Obesity, Attention deficit hyperactivity disorder, Narrow mouth	ORPHA:261222
2Q31.1 Microdeletion Syndrome	Inguinal hernia, Short stature, Camptodactyly of finger, Micrognathia, Short neck, Kyphosis, Deep...	ORPHA:251014
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Pyloric ste...	OMIM:613177
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Truncal obesity, H...	ORPHA:284180
Xq12-Q13.3 Duplication Syndrome	Epicanthus, Eczema, Recurrent upper respiratory tract infections, Low alkaline phosphatase, Gener...	ORPHA:314389
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Megaloblastic anemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis, Failu...	ORPHA:79351
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thy...	OMIM:264090
Xylt1-Cdg	Hepatomegaly, Acne, Synophrys, Cleft palate, Truncal obesity, Hirsutism	ORPHA:370930
Ataxia-Telangiectasia	Conjunctival telangiectasia, Failure to thrive, Sinusitis, Chronic diarrhea, Lymphoma, Bronchiect...	OMIM:208900
Poems Syndrome	Thrombocytosis, Polycythemia, Respiratory insufficiency due to muscle weakness, Pericardial effus...	ORPHA:2905
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Failure to thrive, Joint hyperflexibility	ORPHA:319199
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Bradycardia	ORPHA:565624
Herpes Simplex Virus Encephalitis	Hyponatremia, Addictive alcohol use, Cerebral edema, Elevated circulating C-reactive protein conc...	ORPHA:1930
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Polyhydramnios, Spina bifida, Asplenia, Abnormal heart v...	ORPHA:99776
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Omphalocele, Natal tooth, Rhizomelia, Hamartoma of tongue, Sparse eyebrow, Cle...	OMIM:616300
Leprosy	Absent eyebrow, Alopecia, Skeletal muscle atrophy, Epistaxis, Abnormality of the spleen, Loss of ...	ORPHA:548
Schinzel-Giedion Syndrome	Micrognathia, Short neck, Abnormality of the gingiva, Short philtrum, High palate, Myeloid leukem...	ORPHA:798
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Bradycardia, Dysphagia	OMIM:617248
Huntington Disease-Like 1	Abnormal posturing, Weight loss	ORPHA:157941
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, Synophrys, High palate, Short philtrum, Short stature, Sp...	ORPHA:3063
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Hypertens...	ORPHA:449291
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo...	ORPHA:1110
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Epicanthus, Macrocytic anemia, Congenital diaphragmatic hernia, Sparse eyeb...	OMIM:606164
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Widely spaced teeth, Short philtrum, Sparse hair, Highly arched eyebro...	OMIM:280000
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Alopecia totalis, Alopecia universalis	OMIM:609638
Classic Homocystinuria	Sparse scalp hair, Dental crowding, Recurrent fractures, Anorexia, Joint stiffness, Kyphosis, Ost...	ORPHA:394
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures	ORPHA:3454
Gracile Bone Dysplasia	Asplenia, Aniridia, Hypoplastic spleen, Failure to thrive, Ankyloglossia	OMIM:602361
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, ...	OMIM:617988
Tay-Sachs Disease	Skeletal muscle atrophy, Abnormal circulating enzyme concentration or activity, Hip flexor weakne...	ORPHA:845
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Microretrognathia, Thin upper lip vermilion, Osteopenia, Sacral dimple, Oral-pharyngeal dysphagia...	OMIM:300966
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Hyperactivity, Aggressive behavior, Asymmetric septal hypertr...	OMIM:252920
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Scoliosis	OMIM:607155
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma, Xerostomia, Abnormality of the orbital region, Hypohidrosis, Keratocon...	ORPHA:43393
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Eczema, Elbow contracture, Asthma, Patent ductus arteriosus, Knee flexion cont...	OMIM:618162
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida	ORPHA:2345
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hypoth...	ORPHA:79282
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue	ORPHA:53351
Gm1-Gangliosidosis, Type Iii	Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Intellectual Developmental Disorder, Autosomal Dominant 45	Slender build, Heart murmur, Skin rash, Pulmonic stenosis	OMIM:617600
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Productive cough, Situs inversus totalis, Posterior subcapsular cataract, Decreased nasal nitric ...	OMIM:615434
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Asplenia, Cleft lip, Kyphosis, Cryptorchidism, Cleft palate, Camptodactyly	OMIM:619123
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Blepharospasm, Dysphagia, Abnormal posturing	OMIM:128100
Classic Phenylketonuria	Hypopigmentation of hair, Cataract, Eczema	ORPHA:79254
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Tetralogy of Fallot, Respiratory insu...	ORPHA:1166
Schisis Association	Encephalocele, Anencephaly, Spina bifida	ORPHA:63862
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ...	ORPHA:98855
Fraser Syndrome	Omphalocele, Dental crowding, Abnormal hair pattern, Cleft upper lip, Cryptorchidism, Dental malo...	ORPHA:2052
Gardner Syndrome	Abnormality of the dentition, Adrenocortical carcinoma, Supernumerary tooth, Odontoma, Multiple u...	ORPHA:79665
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Downturned corners ...	ORPHA:3455
Lopes-Maciel-Rodan Syndrome	Kyphosis, Bruxism, Agitation, Scoliosis, Dysphagia, Abnormal repetitive mannerisms	OMIM:617435
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Tented upper lip vermilion, Kyphosis, Cleft palate, Furrowed tongue, High palate...	OMIM:616449
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Micrognathia, Kyphosis, Hirs...	ORPHA:521426
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Gastrointestinal dysmotility, Neutropenia, ...	ORPHA:506
Mosaic Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Glucose ...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Glucose ...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Glucose ...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Glucose ...	ORPHA:99413
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, Chronic constipation, B...	OMIM:300472
Craniofrontonasal Dysplasia	Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Widow's pe...	ORPHA:1520
8P23.1 Microdeletion Syndrome	Epicanthus, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arteriosus,...	ORPHA:251071
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Nail-biting, Joint laxity, Aggressive behavior, ...	OMIM:620330
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Lipodystrophy, Short neck, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spina...	ORPHA:98863
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Reduced left ventricular ejection fra...	OMIM:616501
Hypophosphatasia, Infantile	Intracranial hemorrhage	OMIM:241500
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Hermansky-Pudlak Syndrome 2	Thin upper lip vermilion, Absent platelet dense granules, Fair hair, Albinism, Carious teeth, Thr...	OMIM:608233
Bickerstaff Brainstem Encephalitis	Ptosis, Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy,...	ORPHA:79138
Sunct Syndrome	Palpebral edema, Rhinorrhea, Episodic hyperhidrosis, Hyperhidrosis, Vomiting, Conjunctival hypere...	ORPHA:57145
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Reduced forced vital capacity, High palate,...	OMIM:164310
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Severe B lymphocytopenia, Biliary hyperplasia, Coarse hair, Pancreatic hypo...	ORPHA:83617
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Retinal hemorrhage, Hyperhidrosis, Hypertension, Bradycardia	OMIM:614653
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hypogonadism, Failure...	ORPHA:2250
Epidermodysplasia Verruciformis	Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Fraser Syndrome 1	Absent eyebrow, Dental crowding, Cleft upper lip, Absent eyelashes, Cryptorchidism, Dental malocc...	OMIM:219000
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic failure, Feeding difficulties, Esophagitis, Hepatosplenomegaly	ORPHA:541423
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Galactokinase Deficiency	Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypogonadism, Hypog...	ORPHA:79237
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Small intestinal dysmotility, Apnea, Feeding difficulties, Hypopnea, Chronic con...	OMIM:619482
Infantile Neuroaxonal Dystrophy	Flexion contracture, Apneic episodes in infancy, Constipation, Aspiration pneumonia, Increased ci...	ORPHA:35069
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv...	ORPHA:85436
Subcorneal Pustular Dermatosis	Hyperthyroidism, Pustule, Pruritus, Rheumatoid arthritis, Hypothyroidism	ORPHA:48377
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Donnai-Barrow Syndrome	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Widow's peak,...	ORPHA:2143
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion co...	OMIM:601803
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Raynaud phenomenon, Cheilitis, L...	ORPHA:536
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he...	DECIPHER:39
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Frontometaphyseal Dysplasia 2	Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Stridor, Gas...	OMIM:617137
Congenital Diaphragmatic Hernia	Respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia...	ORPHA:2140
Dermatosparaxis Ehlers-Danlos Syndrome	Gastroesophageal reflux, Esophagitis, Hiatus hernia	ORPHA:1901
Olmsted Syndrome, X-Linked	Posterior blepharitis, Blepharitis, Alopecia totalis	OMIM:300918
Wildervanck Syndrome	Meningocele	ORPHA:3456
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte...	ORPHA:87
Arthrogryposis, Distal, Type 4	Osteopenia, Kyphosis, Low anterior hairline, Low posterior hairline, Camptodactyly of 2nd-5th fin...	OMIM:609128
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Somatomammotropinoma	Mandibular prognathia, Dysmenorrhea, Osteoarthritis, Synophrys, Widely spaced teeth, Pituitary pr...	ORPHA:314769
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension	OMIM:614424
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Cataract, Gastroparesis, Intestinal pseudo-obstruction...	OMIM:607459
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Aspartylglucosaminuria	Joint laxity, Macroorchidism, Short stature, Kyphosis, Hypoplastic frontal sinuses, Thick lower l...	OMIM:208400
Marden-Walker Syndrome	Failure to thrive, Severe short stature, Camptodactyly of finger, Micrognathia, Joint stiffness, ...	ORPHA:2461
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal telangiectasia	ORPHA:438134
Aspartylglucosaminuria	Mandibular prognathia, Inguinal hernia, Abnormality of the dentition, Carious teeth, Splenomegaly...	ORPHA:93
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation	OMIM:261990
Jacobsen Syndrome	Microcornea, Eyelid coloboma, Iris coloboma, Abnormality of the anus, Constipation, Annular pancr...	ORPHA:2308
Emery-Dreifuss Muscular Dystrophy	Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ...	ORPHA:98853
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Inguinal hernia, Trichiasis, Micrognathia, Sparse eyebrow, Kyphosis, High palate, Short philtrum,...	OMIM:609944
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Poor appetite, Feeding difficulties in infancy, High, narrow palate, C...	ORPHA:96182
Mosaic Trisomy 20	Vertebral fusion, Micrognathia, Cleft lip, Kyphosis, Cryptorchidism, Spinal canal stenosis, Cleft...	ORPHA:1724
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short stature, Recurrent fractures, Short neck, Micrognathia,...	ORPHA:140
Antiphospholipid Syndrome, Familial	Autoimmune thrombocytopenia, Keratitis, Central retinal artery occlusion, Scleritis, Retinal vasc...	OMIM:107320
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Cachexia, Abnormal mitral valve morphology, Short hard palate, Ptosis	ORPHA:1969
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Dental crowding, Impulsivity, Aggressive behavior, Kyphoscoliosis, High, narrow pal...	OMIM:300967
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del...	OMIM:176000
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary...	OMIM:618885
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Abnormal lymphatic vessel morphology, Subconju...	ORPHA:464329
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Mandibular prognathia, Joint laxity, Broad eyebrow, Lumbar hyperlordosis, Kyphoscoliosis, Large f...	ORPHA:457359
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vertebral bodies, Downturned ...	ORPHA:280
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Diarrhea, Protein-losing enteropathy, Weight loss	ORPHA:103910
Ring Chromosome 12 Syndrome	Acne, Small for gestational age, Secundum atrial septal defect, High, narrow palate, Hirsutism, H...	ORPHA:1439
Lynch Syndrome	Gastrointestinal hemorrhage, Intestinal polyposis, Pancreatic adenocarcinoma, Neoplasm of the pan...	ORPHA:144
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent fractures, Craniosynostosis, Premature loss of primary teeth...	ORPHA:667
Galloway-Mowat Syndrome 7	Ventricular septal defect, Eczema, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cle...	OMIM:618348
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Carcinoid tumor, Internal hemorrhage, H...	ORPHA:805
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Abnormality of the diaphragm, Pulmonary hypoplasia, Intestinal malrotation, Congenital diaphragma...	OMIM:601163
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Skin rash, Acne, Sudden cardiac dea...	ORPHA:758
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath...	ORPHA:363618
Mohr-Tranebjaerg Syndrome	Aspiration pneumonia, Dysphagia	ORPHA:52368
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Thin upper lip vermilion, Short stature, Kyphosis, Bilateral camptodactyly, Synophrys, Downturned...	OMIM:619557
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Recurrent skin infections, Gastrointestinal dysmotility, Corneal scarring, Hypohidrosis, Corneal ...	OMIM:616488
Perry Syndrome	Central hypoventilation, Hypotension, Weight loss	ORPHA:178509
Spondyloperipheral Dysplasia	Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular...	OMIM:271700
Atypical Rett Syndrome	Restrictive behavior, Kyphosis, Tongue thrusting, Growth delay, Agitation, Inappropriate laughter...	ORPHA:3095
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Fixed Drug Eruption	Stomatitis, Crusting erythematous dermatitis	ORPHA:293812
Rett Syndrome	Agitation, Increased serum leptin, Scoliosis, Failure to thrive, Abnormal repetitive mannerisms, ...	ORPHA:778
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Cardiac diverti...	ORPHA:440437
Mucolipidosis Iii Gamma	Short stature, Joint stiffness, Hyperlordosis, Kyphosis, Short neck, Scoliosis	OMIM:252605
Acromegaly	Mandibular prognathia, Dysmenorrhea, Osteoarthritis, Synophrys, Widely spaced teeth, Pituitary pr...	ORPHA:963
Mitochondrial Dna-Associated Leigh Syndrome	Multiple glomerular cysts, Cardiac conduction abnormality, Hypothermia, Low plasma citrulline, Di...	ORPHA:255210
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye...	OMIM:167730
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Arthritis, Patchy alopecia, Ir...	OMIM:109650
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Sparse scalp hair, Inguinal hernia, Tented upper lip vermilion, Exaggerate...	ORPHA:464738
Intermediate Uveitis	Anterior uveitis, Cataract, Psoriasiform dermatitis, Band keratopathy, Chronic infection, Vasculi...	ORPHA:279914
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hyperhidrosis, Acne, Secretory diarrhea, Seborrheic dermatitis	OMIM:614441
Microphthalmia With Linear Skin Defects Syndrome	Failure to thrive, Sacral dimple, Severe short stature, Abnormal dental enamel morphology, Congen...	ORPHA:2556
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Thin upper lip vermilion, Supernumerary nipple, Short neck, Kyphosis, Deep philt...	OMIM:619194
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, Joint laxity, Hyperlordosis, Large for gestational age, Kyphosis, Sparse e...	OMIM:617011
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Hepatomegaly, Re...	ORPHA:365
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Micrognathia, Short neck, Synophrys, Low anterior hairline, Down...	ORPHA:199
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Sparse hair, Hypot...	OMIM:620186
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Abnormal lung morphology, Pheochromocytoma, Myelodyspl...	ORPHA:97685
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Eales Disease	Peripheral retinal neovascularization, Anterior uveitis, Transient ischemic attack, Epistaxis, Ir...	ORPHA:40923
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, De...	OMIM:177170
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Curly hair, Epicanthus, Sparse scalp hair, Atrial septal defect, Eczema, Ve...	OMIM:607721
Bohring-Opitz Syndrome	Annular pancreas, Urinary retention, Bradycardia, Cholelithiasis, Nephroblastoma	ORPHA:97297
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Glossoptosis, High palate, Gast...	ORPHA:444077
8Q21.11 Microdeletion Syndrome	Epicanthus, Cataract, Corneal opacity, Eczema, Sclerocornea, Iris hypopigmentation, Camptodactyly...	ORPHA:284160
Geleophysic Dysplasia 3	Hepatomegaly, Pneumonia, Dyspnea, Mitral regurgitation, Respiratory failure	OMIM:617809
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Scarring, Short stature, Abnormality of the dentition, C...	ORPHA:158668
Serotonin Syndrome	Restlessness, Tachycardia, Hyperhidrosis, Hypertension, Agitation, Hypotension, Acute kidney injury	ORPHA:43116
Distal 7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Congenital diaphragmatic hernia	ORPHA:261102
47,Xyy Syndrome	Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating gonadotropin level...	ORPHA:8
Juvenile Xanthogranuloma	Hyphema, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Blepharitis	ORPHA:158000
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis, Secretory diarrhea, Hyperhidrosis, Ptosis	OMIM:167100
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon...	ORPHA:249
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Widely spaced teeth, ...	ORPHA:268261
Pallister-Hall Syndrome	Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Short stature, Decreased r...	OMIM:146510
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Short stature, Micrognathia, Agenesis of mandibular central incisor, Pierre-Ro...	OMIM:268305
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Sparse eyebrow, Synophrys, Low anterior hairline, Hirsutism, ...	ORPHA:495875
Angiostrongyliasis	Projectile vomiting, Pruritus, Hypereosinophilia, Unusual CNS infection, Gastrointestinal eosinop...	ORPHA:74
Wolf-Hirschhorn Syndrome	Micrognathia, Orofacial cleft, Abnormal form of the vertebral bodies, Downturned corners of mouth...	OMIM:194190
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Cataract, Skin rash, Pancytopenia, Diarrhea, Dilated cardiomyopathy, Vomiting, Left ...	OMIM:618321
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o...	OMIM:313400
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition...	OMIM:306955
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia	OMIM:226735
Proximal 16P11.2 Microduplication Syndrome	Sparse eyelashes, Congenital diaphragmatic hernia, Sparse eyebrow, Failure to thrive, Decreased b...	ORPHA:370079
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash, Tachypnea, Vomiting, Thrombocytopenia, Hyperventilation	OMIM:253270
White-Sutton Syndrome	Atrial septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Patent foramen ovale, Pa...	OMIM:616364
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Chronic constipation, Failure to thrive, Aspiration pneumonia	OMIM:616430
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Recurrent skin infections, Abnormal heart valve morphology, Abnormal mesen...	ORPHA:2953
Chromosome 1P36 Deletion Syndrome, Distal	Synophrys, Orofacial cleft, High palate, Hypothyroidism, Self-mutilation, Bifid uvula, Opposition...	OMIM:607872
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Epicanthus, Hyperthyroidism, Corneal opacity, Eczema, Decreased response...	ORPHA:488632
Floating-Harbor Syndrome	Restlessness, Small for gestational age, Short stature, Impulsivity, Persistence of primary teeth...	ORPHA:2044
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Chand Syndrome	Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi...	ORPHA:1401
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin...	ORPHA:542643
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the...	ORPHA:2255
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Epicanthus, Apnea, Malabsorption, Osteoarthritis, Gastrointestinal dysmotility, Anor...	ORPHA:285
Holoprosencephaly	Congenital diaphragmatic hernia, Abnormality of the spleen, Synophrys, Gastroesophageal reflux, I...	ORPHA:2162
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Congenital hypothyroidism, Delayed eruption of...	ORPHA:521445
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Breast aplasia, Sparse hair, Type I diab...	ORPHA:2036
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Pedal edema, Sinus bradycardia	OMIM:126320
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Orthostatic hypotension, Tachycardia, Renal insufficiency, Abnormal...	ORPHA:1764
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Craniosynostosis, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Mal...	OMIM:123790
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Laterally extended eyebrow, Synophrys, Low anterior hairline, Keratoconjunctivitis sicca, Long ey...	OMIM:618479
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Sparse eyelashes, Adrenal hypoplasia, Micrognathia, Kyphosco...	OMIM:275210
Digeorge Syndrome	Sclerocornea, High, narrow palate, Abnormal thymus morphology, High palate, Gastroesophageal refl...	OMIM:188400
Uremic Pruritus	Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections, Elevated total serum t...	ORPHA:94059
Charge Syndrome	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Short stature, Highly arched eyebrow, C...	ORPHA:138
Short-Rib Thoracic Dysplasia 12	Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Hamartoma of tongue, Short neck, Spl...	OMIM:269860
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Punctate opacif...	ORPHA:67043
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Polyhydramnios, Spina bifida, Edema	OMIM:616038
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy...	OMIM:603903
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Hyposegmentation of neutrophil nuclei, Submucous cleft hard pala...	ORPHA:250999
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Infertility, Scoliosis	OMIM:614409
Isolated Osteopoikilosis	Abnormality of the endocrine system, Addictive alcohol use, Abnormality of the kidney	ORPHA:166119
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Argininemia	Hyperactivity, Anorexia, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Oroticaciduria	OMIM:207800
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Disproportionate short statu...	ORPHA:15
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:2141
Pemphigus Foliaceus	Psoriasiform dermatitis, Pustule, Pruritus, Crusting erythematous dermatitis, Erythroderma	ORPHA:79481
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ...	OMIM:617140
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Failure to thrive, Thyroid C cell hyperplasia	OMIM:300952
Cdags Syndrome	Sparse scalp hair, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Kyphosis, Cleft p...	OMIM:603116
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta	ORPHA:2437
Familial Pseudohyperkalemia	Hypertension, Hyperkalemia	ORPHA:90044
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Short nail, Short neck, Deep philtrum, High palate, Long eyelashes, Op...	ORPHA:1675
Marchiafava-Bignami Disease	Addictive alcohol use, Urinary incontinence, Aggressive behavior	ORPHA:221074
Cutis Laxa-Marfanoid Syndrome	Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia	ORPHA:171719
Thanatophoric Dysplasia	Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibility, Platyspo...	ORPHA:2655
Becker Nevus Syndrome	Lipoatrophy, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta	ORPHA:64755
Isolated Posterior Meningocele	Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia, Occipital meni...	ORPHA:268810
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hypospadias, Abnormal renal collecting system morphology, Hypothermia, Ag...	ORPHA:17
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopath...	OMIM:619121
Greig Cephalopolysyndactyly Syndrome	Telecanthus, Congenital diaphragmatic hernia	ORPHA:380
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Cleft palate, Abnormal ...	ORPHA:261197
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia, Short stature	ORPHA:66518
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Diarrhea, Tachypnea, Weight loss, Hypertension, Vomiting, Hypotension...	ORPHA:134
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Abn...	ORPHA:97214
Mend Syndrome	Hyperactivity, Sacral dimple, Short stature, Asymmetry of the mouth, Micrognathia, Aggressive beh...	ORPHA:401973
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o...	ORPHA:3097
9Q33.3Q34.11 Microdeletion Syndrome	Epistaxis, Asthma, Telangiectasia, Constipation, Esophagitis, Dysphagia	ORPHA:495818
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Peripheral pulmonary artery stenosis, Epicanthus, Anal stenosis, Atrial septal defect, Patent for...	ORPHA:280633
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis, Meningocele, Short stature	ORPHA:2031
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Dysphagia	ORPHA:352447
Hernia, Anterior Diaphragmatic	Congenital diaphragmatic hernia	OMIM:306950
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:29072
Cowden Syndrome	Short stature, Follicular thyroid carcinoma, Abnormality of the thyroid gland, Kyphosis, Bone cys...	ORPHA:201
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Dysphagia	ORPHA:500180
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyl...	OMIM:618019
Fetal Encasement Syndrome	Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia	OMIM:613630
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Corneal opacity, Congenital diaphragmatic hernia	OMIM:166300
Restrictive Dermopathy	Osteopenia, Natal tooth, Thoracic kyphoscoliosis, Multiple joint contractures, Camptodactyly of f...	ORPHA:1662
Ogden Syndrome	Apnea, Bicuspid aortic valve, Abnormal eyelid morphology, Cardiomegaly, Microvesicular hepatic st...	OMIM:300855
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Syno...	OMIM:614294
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Hypertrichosis, Joint hyperflexibility	OMIM:614898
Arterial Tortuosity Syndrome	Keratoconus, Aortic regurgitation, Ventricular hypertrophy, Congenital diaphragmatic hernia, Hiat...	OMIM:208050
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Fetal intraventricular hemorrhage	OMIM:618480
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr...	ORPHA:1335
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Johanson-Blizzard Syndrome	Joint laxity, Sparse scalp hair, Diabetes mellitus, Small for gestational age, Short stature, Fai...	OMIM:243800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Elbow flexion contracture	OMIM:618138
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Niemann-Pick Disease Type C	Hepatomegaly, Bone-marrow foam cells, Low cholesterol esterification rate, Splenomegaly, Jaundice...	ORPHA:646
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Combined Oxidative Phosphorylation Deficiency 39	Type I diabetes mellitus, Sinus bradycardia	OMIM:618397
Cerebrocostomandibular Syndrome	Calcaneal epiphyseal stippling, Cleft soft palate, Micrognathia, Carious teeth, Cleft lip, Postna...	OMIM:117650
Moebius Syndrome	Skeletal muscle atrophy, Epicanthus, Corneal opacity, Aplasia/Hypoplasia of the tongue, Facial pa...	ORPHA:570
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ...	ORPHA:85327
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter...	OMIM:232300
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy...	ORPHA:747
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Protruding tongue, P...	ORPHA:2388
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Subdural hemorrhage, Cerebral hemorrhage	OMIM:620278
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Multiple joint contractures, Corneal opacity, Eczema, Small for gestational...	ORPHA:464306
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Postencephalitic Parkinsonism	Kyphosis, Open mouth, Camptocormia, Dysphagia	ORPHA:97349
Zaki Syndrome	Sparse scalp hair, Congenital diaphragmatic hernia, Sparse eyebrow, Patent ductus arteriosus, Hig...	OMIM:619648
Serkal Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Pulmonary...	ORPHA:139466
Cerebrocostomandibular Syndrome	Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranence...	ORPHA:1393
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:614100
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Orthostatic hypotension, Recurrent urinary tract infections, Head titubation, Flexion...	ORPHA:99027
Neu-Laxova Syndrome 1	Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Sh...	OMIM:256520
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Everted upper lip vermilion, Brittle hair, Absent nipple, Abnormal oral mucosa mo...	OMIM:305100
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Adrenal hypoplasia, Micrognathia, Cryptorchid...	OMIM:612651
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp...	ORPHA:565
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Pineal cyst, Hypothyroidism, Joint laxity,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Hypothyroidism, Joint laxity,...	ORPHA:363958
Mend Syndrome	Microretrognathia, Hyperactivity, Sacral dimple, Short stature, Micrognathia, Kyphosis, Cryptorch...	OMIM:300960
Enthesitis-Related Juvenile Idiopathic Arthritis	Aortic regurgitation, Anterior uveitis, Dilatation of the ventricular cavity, Knee osteoarthritis...	ORPHA:85438
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Short stature, Kyphoscoliosis, Micrognathia, Hyperlordosis, Bone cyst, Abnormality of ...	ORPHA:363700
Tarp Syndrome	Tetralogy of Fallot, Subdural hemorrhage	OMIM:311900
Hellp Syndrome	Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension	ORPHA:244242
Shprintzen Omphalocele Syndrome	Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Thin vermilion border, Scoliosis, Dec...	OMIM:182210
Sotos Syndrome	No permanent dentition, Flexion contracture, Hypothyroidism, Abnormal vertebral morphology, Joint...	ORPHA:821
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A...	ORPHA:95494
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity	OMIM:615084
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hy...	OMIM:600001
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Kyphosis, Tongue fasciculations, Scoliosis, Dysphagia	OMIM:211530
Milroy Disease	Epicanthus, Erysipelas	ORPHA:79452
Seckel Syndrome 9	Recurrent respiratory infections, Recurrent urinary tract infections, Small for gestational age, ...	OMIM:616777
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Respiratory ...	ORPHA:1488
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Highly arched eyebrow, Cryptorchidism, Widow's peak, Orofacial cleft, Thin vermilion...	ORPHA:1519
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Meningocele, Anisopoikilocytosis, Abnormal platelet morph...	ORPHA:46059
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Micrognathia, Short neck, Cleft lip, Cleft palate, Low posterio...	OMIM:617925
Vacterl/Vater Association	Congenital diaphragmatic hernia, Abnormality of the pancreas, Anorectal anomaly, Abnormality of t...	ORPHA:887
Thanatophoric Dysplasia Type 2	Short stature, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly	ORPHA:93274
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Atrial septal defect, Scimitar anomaly, Mesocardia, Accessory sp...	OMIM:618280
Fetal Alcohol Syndrome	Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Cleft palate, Atrial septal defect, Gen...	ORPHA:1915
Meckel Syndrome, Type 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Accessory spleen, Camptodactyly of finger, Ad...	OMIM:249000
Glutaryl-Coa Dehydrogenase Deficiency	Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Oromandibular Dystonia	Respiratory distress, Torticollis, Weight loss, Blepharospasm, Dysphagia	ORPHA:93958
Huntington Disease-Like 2	Weight loss	OMIM:606438
Neurotrophic Keratopathy	Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion...	ORPHA:137596
Non-Syndromic Posterior Hypospadias	Small for gestational age, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Ana...	ORPHA:95706
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Recurrent respiratory infections, Epicanthus, Apnea, Supernumerary...	ORPHA:397715
Complete Androgen Insensitivity Syndrome	Acne, Sparse axillary hair, Elevated circulating luteinizing hormone level, Sparse pubic hair, Ab...	ORPHA:99429
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph...	ORPHA:2369
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Achalasia, Esophagitis, Feeding difficulties	OMIM:615356
Myasthenic Syndrome, Congenital, 20, Presynaptic	Arthrogryposis multiplex congenita, Kyphosis, Scoliosis, Dysphagia	OMIM:617143
Amish Lethal Microcephaly	Hepatomegaly, Spina bifida	ORPHA:99742
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Hirsutism	ORPHA:2795
Semilobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Cleft palate, Dysphagia, Fe...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Cleft palate, Dysphagia, Fe...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Cleft palate, Dysphagia, Fe...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Cleft palate, Dysphagia, Fe...	ORPHA:93924
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Supernumerary nipple, Congenital diaphragmatic hernia, Sparse eyebrow,...	OMIM:612530
Menke-Hennekam Syndrome 2	Epicanthus, Duodenal ulcer, Recurrent upper respiratory tract infections, Upslanted palpebral fis...	OMIM:618333
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Developmental cataract, Pseudobulbar paraly...	OMIM:618651
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Abnormal lung lobation, Vomiting, Gastroesophageal reflux, Atrial s...	OMIM:270400
Floating-Harbor Syndrome	Joint laxity, Thin upper lip vermilion, Inguinal hernia, Ivory epiphyses of the distal phalanges ...	OMIM:136140
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Fanconi Anemia	Abnormal eyelid morphology, Leukopenia, Abnormality of the liver, High palate, Atrial septal defe...	ORPHA:84
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Mic...	ORPHA:71273
Fatal Familial Insomnia	Apnea, Hyperhidrosis, Weight loss, Constipation, Dysphagia	OMIM:600072
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Trisomy 1Q	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Patent ductu...	ORPHA:261344
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Kabuki Syndrome 1	High palate, Atrial septal defect, Recurrent aspiration pneumonia, Hemolytic anemia, Highly arche...	OMIM:147920
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Diamond-Blackfan Anemia 10	Respiratory distress, Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hern...	OMIM:613309
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-...	ORPHA:2839
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Epicanthus, Hepatomegaly, Atrial septal defect, Campt...	ORPHA:373
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Epicanthus, Anal stenosis, Congenital diaphragmatic hernia, Large for gestational age, Patent duc...	OMIM:614080
Pancreatoblastoma	Diarrhea, Jaundice, Abnormal lymph node morphology, Weight loss, Vomiting, Pancreatic calcification	ORPHA:677
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Polyhydramnios, Myelomeningocele, Hydrocephalus, Anencep...	ORPHA:63259
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he...	ORPHA:1692
Isolated Anencephaly	Thymus hyperplasia, Congenital diaphragmatic hernia	ORPHA:563609
Fontaine Progeroid Syndrome	Bicuspid aortic valve, High, narrow palate, Synophrys, Hypoplasia of the abdominal wall musculatu...	OMIM:612289
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia	OMIM:600145
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Superficial Siderosis	Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m...	ORPHA:247245
Fryns Syndrome	Corneal opacity, Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, ...	ORPHA:2059
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Eosinophilia, Spina bifida, Edema of the ...	OMIM:274000
Poland Syndrome	Diabetes mellitus, Congenital diaphragmatic hernia, Short neck, Kyphosis, Cryptorchidism, Absence...	ORPHA:2911
Occipital Horn Syndrome	Joint laxity, Hiatus hernia, Kyphosis, Capitate-hamate fusion, Osteoporosis, Growth delay, Platys...	OMIM:304150
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, High, narrow palate, Synophrys, Abnormal curvature of the vertebral column, Short phil...	OMIM:619475
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microcornea, High palate, Atrial septal defect, Tricuspid regurgitation, Hiatus hernia, Astigmati...	OMIM:601776
Wells Syndrome	Vasculitis, Eosinophilia	ORPHA:901
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Conjunctival hyperemia, Neuromuscular dysphagia, Axial muscle stiffness	ORPHA:240071
Kyphoscoliotic Ehlers-Danlos Syndrome	Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Bruising susceptibility, Antenatal in...	ORPHA:536545
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Abnormal eyelid morp...	ORPHA:2526
Urachal Cyst	Leukocytosis, Severe infection, Peritonitis, Abscess	ORPHA:488
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Scoliosis	ORPHA:79327
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Donnai-Barrow Syndrome	Cataract, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hyp...	OMIM:222448
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Overgrowth, Knee flexion contracture	OMIM:603387
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Hyperactivity, Anhidrosis, Hypothermia, Impulsivity, Chronic kidney disease, Hyperhi...	ORPHA:642
Rett Syndrome, Congenital Variant	Thin upper lip vermilion, Kyphosis, Tongue thrusting, Scoliosis, Bruxism, Abnormal repetitive man...	OMIM:613454
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Intracranial hemorrhage, Patent ductus arteriosus, Heart murmur, Interrupted aortic arch	ORPHA:163979
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Pallister-Hall Syndrome	Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Hemivertebrae, Bifid uvul...	ORPHA:672
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate...	OMIM:616482
Neuroblastoma, Susceptibility To, 1	Diarrhea, Weight loss, Hypertension, Failure to thrive, Anemia	OMIM:256700
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Cataract, Entropion, Telangiectasia of the skin, Keratitis...	ORPHA:910
Thrombocytopenia 1	Epistaxis, Eczema, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhag...	OMIM:313900
Hydrolethalus Syndrome 1	Polyhydramnios, Hypospadias, Hydronephrosis, Adrenal gland dysgenesis	OMIM:236680
Cardiospondylocarpofacial Syndrome	Atrial septal defect, Epicanthus, Telecanthus, Gastroparesis, Ventricular septal defect, Congenit...	OMIM:157800
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Flexion contracture, Scoliosis	OMIM:609541
Chromosome 17P13.1 Deletion Syndrome	Umbilical hernia, Hydrocephalus, Spina bifida, Oligohydramnios	OMIM:613776
Medulloblastoma	Cerebellar hemorrhage	ORPHA:616
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Retinoblastoma	Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocoria, Red eye, Cleft p...	ORPHA:790
Hydranencephaly	Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr...	ORPHA:2177
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of the cervical spine, Flexion contracture of finger, Small for gestational age, Ankl...	ORPHA:464311
Hypoplasminogenemia	Cervicitis, Periodontitis, Duodenal ulcer	ORPHA:722
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time	OMIM:619055
Developmental Delay With Or Without Dysmorphic Facies And Autism	Epicanthus, Ventricular septal defect, Highly arched eyebrow, Supernumerary nipple, Congenital di...	OMIM:618454
Oculocerebrocutaneous Syndrome	Alopecia, Corneal opacity, Congenital diaphragmatic hernia, Eyelid coloboma, Iris coloboma, Ptosis	ORPHA:1647
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Acrocallosal Syndrome	Congenital diaphragmatic hernia	ORPHA:36
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Micrognathia, Cryptorchidism, Knee...	OMIM:606170
Neurofibromatosis Type 1	Abnormal hair quantity, Short stature, Recurrent fractures, Joint stiffness, Abnormality of the e...	ORPHA:636
Ferguson-Bonni Neurodevelopmental Syndrome	Unilateral ptosis, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, High palat...	OMIM:619699
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Rhabdomyosarcoma, Large for gesta...	ORPHA:116
Vacterl With Hydrocephalus	Polyhydramnios, Spina bifida, Aqueductal stenosis, Hydrocephalus, Intrauterine growth retardation	ORPHA:3412
Perlman Syndrome	Distal ileal atresia, Congenital diaphragmatic hernia, Large for gestational age, Hypoplasia of t...	OMIM:267000
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Atrophic scars, Scoliosis, Join...	OMIM:617821
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Upslanted ...	ORPHA:1780
Familial Gestational Hyperthyroidism	Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin...	ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin...	ORPHA:424
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Hyphema, Leukocoria, Uveitis, Microcornea, Posterior synechiae of the ...	OMIM:221900
Tetraamelia Syndrome 1	Urethral atresia, Renal agenesis, Adrenal gland agenesis	OMIM:273395
Mullerian Aplasia And Hyperandrogenism	Acne, Hirsutism	OMIM:158330
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage	ORPHA:91350
Microphthalmia, Syndromic 1	Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis, Cleft upper lip, Aggressive behavior, High...	OMIM:309800
Autosomal Dominant Hypocalcemia	Alopecia, Eczema, Congestive heart failure, Hypotension, Arrhythmia, Abnormal pattern of respiration	ORPHA:428
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia, Oligohydramnios	OMIM:614437
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Atrial septal defect, Occipital meni...	OMIM:616546
Goodpasture Syndrome	Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Weigh...	OMIM:233450
Phakomatosis Pigmentokeratotica	Spina bifida, Lymphedema	ORPHA:2874
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma...	ORPHA:1359
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele	ORPHA:1827
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Congenital diaphragmatic hernia, Cutaneous telangiectasia, Dysphagia...	OMIM:615919
Brachyolmia Type 3	Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis	OMIM:113500
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Pagod Syndrome	Encephalocele, Short stature, Spina bifida, Situs inversus totalis, Abnormality of the spleen, Me...	ORPHA:991
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased serum iron, Hypothermia, Abnormality of the endocrine system, Precocious puberty, Crypt...	ORPHA:438213
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased...	OMIM:259770
Legius Syndrome	Hyperactivity, Paroxysmal atrial tachycardia, Nephrolithiasis, Ovarian neoplasm, Xanthelasma, Mal...	ORPHA:137605
Birdshot Chorioretinopathy	Posterior uveitis	OMIM:605808
White-Sutton Syndrome	Abnormality of the gastrointestinal tract, Facial hypotonia, Congenital diaphragmatic hernia, Obe...	ORPHA:468678
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Epicanthus, Recurrent urinary tract infections, Eczema, Rectal prolapse, Obesity, Astigmatism, Hi...	OMIM:617157
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Anal stenosis, Sparse eyelashes, Lacrimal duct stenosis, Absence of Stensen du...	OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Telecanthus, Recurrent respiratory infections, Sparse eyelashes, Absence of St...	OMIM:129900
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Intraventricular hemorrhage	OMIM:613603
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Flexion contracture, Widely ...	ORPHA:2152
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia, Polyhydramnios	OMIM:608885
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Congen...	OMIM:309801
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Flexion contracture, Short p...	ORPHA:261537
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm...	ORPHA:228116
Leukonychia Totalis	Abnormal eyelash morphology, Blepharitis	ORPHA:2387
Aplasia Cutis-Myopia Syndrome	Meningitis	ORPHA:1117
Steinert Myotonic Dystrophy	Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone...	ORPHA:273
Perry Syndrome	Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest	OMIM:168605
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth...	OMIM:615948
Branchiooculofacial Syndrome	Micrognathia, Short neck, Premature graying of hair, Sparse hair, Ectopic thymus tissue, Cleft up...	OMIM:113620
Aromatic L-Amino Acid Decarboxylase Deficiency	Tongue thrusting, Intermittent hypothermia, Hypotension, Hyperhidrosis	OMIM:608643
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Arachnoid Cyst	Subarachnoid hemorrhage	ORPHA:2356
Thanatophoric Dysplasia Type 1	Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Lethal short-limb...	ORPHA:1860
Acute Transverse Myelitis	Orthostatic hypotension, Invasive parasitic infection, Gastroparesis, Abscess, Subarachnoid hemor...	ORPHA:139417
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Subdural hemorrhage	OMIM:619714
Distal Deletion 15Q	Failure to thrive, Small for gestational age, Bicuspid aortic valve, Congenital diaphragmatic her...	ORPHA:1596
Dpagt1-Cdg	Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode	ORPHA:86309
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Paten...	OMIM:245600
Liposarcoma	Varicose veins, Weight loss	ORPHA:69078
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrichia, Atrial septal defect, Dystrophic fingernails, Absent eyebrow, Alopecia, Absent eyelashe...	OMIM:308205
Craniofrontonasal Syndrome	Curly hair, Telecanthus, Unilateral breast hypoplasia, Congenital diaphragmatic hernia, Widow's p...	OMIM:304110
Spondyloocular Syndrome	Cataract, Duodenal ulcer, Posterior subcapsular cataract, Low posterior hairline, Mitral valve pr...	OMIM:605822
Neu-Laxova Syndrome	Intrauterine growth retardation, Polyhydramnios, Spina bifida	ORPHA:2671
Fibular Hemimelia	Thrombocytopenia, Spina bifida, Abnormal heart morphology	ORPHA:93323
Unilateral Polymicrogyria	Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Pseudobulbar p...	ORPHA:268943
Phocomelia, Schinzel Type	Intrauterine growth retardation, Disproportionate short stature, Meningocele, Hydrops fetalis	ORPHA:2879
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Short stature, Tetralogy of Fallo...	ORPHA:508498
Arachnoiditis	Anhidrosis, Meningitis	ORPHA:137817
Kabuki Syndrome	Ptosis, Highly arched eyebrow, Congenital diaphragmatic hernia, Obesity, Cleft palate, Recurrent ...	ORPHA:2322
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Weight loss	OMIM:605543
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, High, nar...	OMIM:613406
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Asplenia, Flexion contracture, Short p...	ORPHA:261552
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, P...	OMIM:192350
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus, Patent ductus arteriosus, Atrioventricular canal defect, Spina bi...	OMIM:619480
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process...	OMIM:300106
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Eyelid col...	ORPHA:268249
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating ferritin co...	OMIM:619534
Hereditary Late-Onset Parkinson Disease	Weight loss, Chronic constipation, Dysphagia, Orthostatic hypotension due to autonomic dysfunctio...	ORPHA:411602
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Unilateral ptosis, Atrial septal defect, Ventricular septal defect, Highly arched eyebrow, Congen...	OMIM:301044
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Kyphosis...	OMIM:615512
Nail-Patella Syndrome	Short stature, Spina bifida	OMIM:161200
Holt-Oram Syndrome	Kyphosis, Radioulnar synostosis, Scoliosis, Joint stiffness	ORPHA:392
Mowat-Wilson Syndrome	Delayed eruption of teeth, Short stature, Supernumerary nipple, Cryptorchidism, Submucous cleft h...	OMIM:235730
Basal Cell Nevus Syndrome 1	Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida	OMIM:109400
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Emphysema, Congenital diaphragmatic hernia, Supravalvular aorti...	OMIM:219100
Sympathetic Ophthalmia	Alopecia, Cataract, Poliosis, Retinal hemorrhage, Posterior synechiae of the anterior chamber, Po...	ORPHA:79098
Meningioma	Syncope, Cerebral hemorrhage	ORPHA:2495
Glucose-Galactose Malabsorption	Diarrhea, Failure to thrive, Vomiting, Weight loss	ORPHA:35710
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Vascular Ehlers-Danlos Syndrome	Telangiectasia of the skin, Transient ischemic attack, Hypospadias, Cryptorchidism, Cystocele, Re...	ORPHA:286
Yunis-Varon Syndrome	Anterior concavity of thoracic vertebrae, Micrognathia, Short philtrum, High palate, Decreased sk...	OMIM:216340
Monosomy 9P	Epicanthus, Highly arched eyebrow, Congenital diaphragmatic hernia, Synophrys, Cleft palate, Low ...	ORPHA:261112
Cono-Spondylar Dysplasia	Short nail, Short neck, Kyphosis, Scoliosis, Failure to thrive	ORPHA:420794
Acrofacial Dysostosis 1, Nager Type	Sparse lower eyelashes, Aganglionic megacolon, Congenital diaphragmatic hernia, Ventricular septa...	OMIM:154400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem...	OMIM:175780
Mullegama-Klein-Martinez Syndrome	Facial palsy, Curly eyelashes, Congenital diaphragmatic hernia, Low anterior hairline, Cleft pala...	OMIM:301022
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Secondary Non-Traumatic Avascular Necrosis	Addictive alcohol use	ORPHA:399180
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Orofaciodigital Syndrome Vi	Occipital meningocele, Hypoplastic left heart, Short stature	OMIM:277170
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Cerebral hemorrhage	OMIM:616682
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Cleft palate, Transposition of the gre...	OMIM:313850
Acrorenal-Mandibular Syndrome	Epicanthus, Absent nipple, Congenital diaphragmatic hernia, Elbow flexion contracture, Narrow pal...	OMIM:200980
Campomelic Dysplasia	Polyhydramnios, Spina bifida, Hydrocephalus, Abnormal heart morphology, Spinal dysraphism, Dispro...	OMIM:114290
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move...	OMIM:203500
C Syndrome	Epicanthus, Failure to thrive in infancy, Abnormal hair pattern, Congenital diaphragmatic hernia,...	ORPHA:1308
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Scoliosis	ORPHA:88644
Barrett Esophagus	Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux	OMIM:614266
Lafora Disease	Hepatic failure, Recurrent aspiration pneumonia	ORPHA:501
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Hydrom...	ORPHA:573278
Aicardi Syndrome	Hepatoblastoma, Postnatal growth retardation, Spina bifida	OMIM:304050
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Red eye, Posterior synechiae of the anterior chamber	ORPHA:280921
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Neonatal respiratory distress, Epicanthus, Congenital diaphr...	OMIM:194080
Knobloch Syndrome 1	Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta	OMIM:267750
Otopalatodigital Syndrome, Type Ii	Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth, Atrial sept...	OMIM:304120
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida	OMIM:162200
Gerstmann-Straussler Disease	Lower limb muscle weakness, Weight loss	OMIM:137440
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:618022
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Epicanthus, Congenital diaphragmatic hernia, Respiratory insufficiency, Abnormal heart morphology	OMIM:617641
Diets-Jongmans Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Duodenal atresia	OMIM:618846
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida, Abnormal heart morphology	ORPHA:322
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele, Disproportionate short stature	OMIM:276820

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 Tgfb1

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 Tgfb1.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A trans-eQTL network regulates osteoclast multinucleation and bone mass.	eLife (June 2020)	Tgfb1i1^{tm1b(KOMP)Wtsi}	PMC7351491
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Tgfb1i1^{tm1b(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Tgfb1i1^{tm1b(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Tgfb1i1^{tm1b(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Tgfb1i1^{tm1b(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Tgfb1i1^{tm1b(KOMP)Wtsi}	PMC5827107
A gene expression resource generated by genome-wide lacZ profiling in the mouse.	Disease models & mechanisms (August 2015)	Tgfb1i1^{tm1b(KOMP)Wtsi}	PMC4631787
Normal Platelet Integrin Function in Mice Lacking Hydrogen Peroxide-Induced Clone-5 (Hic-5).	PloS one (July 2015)	Tgfb1i1^{tm1a(KOMP)Wtsi}	PMC4501753

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Tgfb1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tgfb1^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tgfb1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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