Gene: Ctnnb1 MGI:88276

Gene Summary

Name:

catenin (cadherin associated protein), beta 1

Synonyms:

beta-catenin, beta catenin, Catnb

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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal head morphology	Ctnnb1^Bfc	HET	Early adult	9.73×10^-11
abnormal startle reflex	Ctnnb1^Bfc	HET	Early adult	3.60×10^-09
increased bone mineral density	Ctnnb1^Bfc	HET	Early adult	1.44×10^-07
increased startle reflex	Ctnnb1^Bfc	HET	Early adult	2.51×10^-08
abnormal cranium morphology	Ctnnb1^Bfc	HET	Early adult	7.65×10^-06
abnormal bone mineralization	Ctnnb1^Bfc	HET	Early adult	1.90×10^-08

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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 Ctnnb1 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 Ctnnb1 (14 diseases)
Human diseases predicted to be associated with Ctnnb1 (2755 diseases)

The table below shows human diseases associated to Ctnnb1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Colorectal Cancer	Neoplasm of the stomach, Uterine leiomyosarcoma, Renal cell carcinoma, Transitional cell carcinom...	OMIM:114500
Desmoid Tumor	Malabsorption, Abdominal pain, Intestinal polyposis, Intestinal obstruction, Gastrointestinal hem...	ORPHA:873
Familial Exudative Vitreoretinopathy	Vitreous hemorrhage, Blindness, Vitreous floaters, Retinal neovascularization, Macular telangiect...	ORPHA:891
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects	High palate, Long philtrum, Primary microcephaly, Thin upper lip vermilion, Broad nasal tip, Hypo...	OMIM:615075
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Underdeveloped nasal alae, Long philtrum, Primary microcephaly, Thin upper lip vermilion, Broad n...	ORPHA:404473
Ovarian Cancer	Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma	OMIM:167000
Craniopharyngioma	Enlarged pituitary gland, Increased circulating prolactin concentration, Neoplasm of the anterior...	ORPHA:54595
Medulloblastoma	Medulloblastoma	OMIM:155255
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Hepatocellular Carcinoma	Hepatocellular carcinoma	OMIM:114550
Pilomatrixoma	Pilomatrixoma, Neoplasm of head and neck	ORPHA:91414
Adrenocortical Carcinoma	Hyperhidrosis, Abdominal pain, Hypertension, Abnormality of reproductive system physiology, Palpi...	ORPHA:1501
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Vomiting, Hepatic necrosis, Abdominal pain, Portal vein thrombosis, Hepatomegaly	ORPHA:33402
Exudative Vitreoretinopathy 7		OMIM:617572

The table below shows human diseases predicted to be associated to Ctnnb1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Epilepsy With Bilateral Occipital Calcifications	Celiac disease	OMIM:226810
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Familial Adenomatous Polyposis 3	Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Duodenal adenocarcinoma, Basal cell...	OMIM:616415
Colorectal Cancer, Hereditary Nonpolyposis, Type 6	Hereditary nonpolyposis colorectal carcinoma	OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7	Hereditary nonpolyposis colorectal carcinoma	OMIM:614385
Muir-Torre Syndrome	Breast carcinoma, Colonic diverticula, Adenoma sebaceum, Duodenal adenocarcinoma, Malignant genit...	OMIM:158320
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Colorectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, Desmoid tumors, Re...	ORPHA:247798
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam...	ORPHA:454840
Polymerase Proofreading-Related Adenomatous Polyposis	Breast carcinoma, Colorectal polyposis, Adenocarcinoma of the colon, Neoplasm of the rectum, Brai...	ORPHA:447877
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Microcoria, Iris coloboma, Anophthalmia	OMIM:616428
Hereditary Mixed Polyposis Syndrome	Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Thyroid...	ORPHA:157794
Desmoid Disease, Hereditary	Breast carcinoma, Colon cancer, Colorectal polyposis, Desmoid tumors	OMIM:135290
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Rapp-Hodgkin Syndrome	Conical tooth, Microdontia, Bifid uvula, Taurodontia, Supernumerary nipple, Decreased number of s...	OMIM:129400
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Tympanosclerosis, Diarrhea, Chronic active hepatitis, Hypoparathyroidism, Alopecia, Pre...	OMIM:240300
Lactose Intolerance, Adult Type	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223100
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As...	ORPHA:247806
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Trichothiodystrophy	Tiger tail banding, Hypoplasia of mandible relative to maxilla, Epicanthus, Keratoconjunctivitis ...	ORPHA:33364
Mismatch Repair Cancer Syndrome 1	Lymphoma, Medulloblastoma, Astrocytoma, Adenocarcinoma of the small intestine, Adenocarcinoma of ...	OMIM:276300
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Bilateral microphthalmos, Iris coloboma, Anophthalmia	OMIM:611638
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Tularemia	Brain abscess, Inflammatory abnormality of the eye, Meningitis, Cervical lymphadenopathy, Thrombo...	ORPHA:3392
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Agel Amyloidosis	Orthostatic hypotension due to autonomic dysfunction, Blepharochalasis, Bilateral ptosis, Tongue ...	ORPHA:85448
Mixed Connective Tissue Disease	Keratoconjunctivitis sicca, Pericarditis, Myositis, Gastritis, Meningitis, Hepatomegaly, Prolonge...	ORPHA:809
Trichothiodystrophy 1, Photosensitive	Tiger tail banding, Keratoconjunctivitis sicca, Intestinal obstruction, Erythroderma, Chronic dia...	OMIM:601675
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t...	ORPHA:220460
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Meningitis, Abnormality of the tonsils, Chronic diarrhea, ...	ORPHA:47
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Kid Syndrome	Gingivitis, Prelingual sensorineural hearing impairment, Corneal erosion, Acne inversa, Keratocon...	ORPHA:477
Inflammatory Bowel Disease (Crohn Disease) 30	Bloody diarrhea, Vomiting, Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Chronic...	OMIM:619079
Immunodeficiency, Common Variable, 2	Conjunctivitis, Diarrhea, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent ot...	OMIM:240500
Gist-Plus Syndrome	Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis	OMIM:175510
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Decreased fertility, Small nail, Trichorrhexis nodosa, Macrotia, Epicanthus, Brittl...	OMIM:234050
Jejunal Atresia	Jejunal atresia	OMIM:243600
Ectodermal Dysplasia-Blindness Syndrome	Hypohidrosis, Blindness, Keratoconjunctivitis sicca, Protruding ear, Fine hair, Microcornea, Abno...	ORPHA:1806
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Microdontia, Elbow flexion contracture, Keratoconjunctivitis sicca, Nail dysplasia, Absent pubic ...	OMIM:148210
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Diarrhea 11, Malabsorptive, Congenital	Diarrhea, Villous atrophy	OMIM:618662
Odonto-Onycho Dysplasia-Alopecia Syndrome	Sparse body hair, Sparse eyebrow, Alopecia, Hypoplastic toenails, Microdontia, Abnormality of den...	ORPHA:2722
Hypotrichosis 5	Alopecia, Hearing abnormality, Thin eyebrow, Abnormality of the nail, Abnormal sweat gland morpho...	OMIM:612841
Immunodeficiency, Common Variable, 1	Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Diarrhea, Neu...	OMIM:607594
Familial Adenomatous Polyposis 1	Fibroma, Multiple lipomas, Medulloblastoma, Astrocytoma, Duodenal polyposis, Odontoma, Adrenocort...	OMIM:175100
Colorectal Cancer, Susceptibility To, 12	Carcinoma, Colorectal polyposis	OMIM:615083
Behçet Disease	Keratoconjunctivitis sicca, Pericarditis, Myositis, Retrobulbar optic neuritis, Meningitis, Splen...	ORPHA:117
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Breast carcinoma, Stomach cancer, Adenocarcinoma of the small intestin...	ORPHA:79501
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Microphthalmia, Isolated, With Coloboma 3	Iris coloboma, Microphthalmia, Cataract	OMIM:610092
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Kerion Celsi	Alopecia, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Lymphadeno...	ORPHA:499
Acrofacial Dysostosis, Weyers Type	Conical tooth, Facial cleft, Advanced eruption of teeth, Hypodontia, Abnormal oral frenulum morph...	ORPHA:952
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Facial cleft, Micrognathia, Bifid nose, Narrow mouth, Broad nasal tip, Microceph...	OMIM:239800
Cataract 11, Multiple Types	Cataract, Microphthalmia, Developmental cataract	OMIM:610623
Mucoepithelial Dysplasia, Hereditary	Chronic monilial nail infection, Erythematous oral mucosa, Nail dysplasia, Eosinophilia, Chronic ...	OMIM:158310
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Steatorrhea, Chronic diarrhea	OMIM:613291
Poikiloderma With Neutropenia	Micrognathia, Recurrent sinusitis, Splenomegaly, Skin rash, Recurrent bronchopulmonary infections...	OMIM:604173
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cataract 9, Multiple Types	Developmental cataract, Microcornea, Cataract, Iris coloboma, Microphthalmia, Progressive cataract	OMIM:604219
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Microcornea	OMIM:251505
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Diarrhea 9	Diarrhea, Villous atrophy	OMIM:618168
Tenorio Syndrome	Gastroesophageal reflux, Recurrent aphthous stomatitis, Mandibular prognathia, Cerebral palsy, Wi...	OMIM:616260
Hypotrichosis 7	Sparse body hair, Sparse eyebrow, Sparse scalp hair, Brittle hair, Sparse axillary hair, Abnormal...	OMIM:604379
Autoimmune Lymphoproliferative Syndrome, Type Iii	Generalized lymphadenopathy, Recurrent sinusitis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,...	OMIM:615559
Cryoglobulinemic Vasculitis	Abnormality of the liver, Petechiae, Arthritis, Abdominal pain, Keratoconjunctivitis sicca, Purpu...	ORPHA:91138
Rubinstein-Taybi Syndrome 2	Epicanthus, Micrognathia, Broad hallux, Hirsutism, Posterior helix pit, Feeding difficulties, Thi...	OMIM:613684
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Chorea, Ataxia, Hypoesthesia, Dysmetria, Thalamic calcification, Basal ganglia calcification, Men...	OMIM:618317
Pancreatic Lipase Deficiency	Fat malabsorption, Steatorrhea	OMIM:614338
Hemophagocytic Lymphohistiocytosis, Familial, 4	Conjunctivitis, Anemia, Skin rash, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thr...	OMIM:603552
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis	OMIM:241520
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse eyebrow, Alopecia, Dystrophic toenail, Sparse scalp hair, Brittle hair, Onycholysis, Abnor...	OMIM:614929
Cockayne Syndrome	Somatic sensory dysfunction, Progressive visual loss, Abnormal number of teeth, Feeding difficult...	ORPHA:191
Clouston Syndrome	Conjunctivitis, Sparse eyebrow, Alopecia, Small nail, Brittle hair, Palmoplantar hyperkeratosis, ...	OMIM:129500
Familial Adenomatous Polyposis	Fibroma, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ependymom...	ORPHA:733
Chudley-Mccullough Syndrome	Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Partial agenesis of the cor...	OMIM:604213
Supernumerary Nostril	Abnormality of ethmoid sinus, Supernumerary naris, Facial cleft, Choanal atresia	ORPHA:141096
Coasy Protein-Associated Neurodegeneration	Abnormality of thalamus morphology, Abnormal caudate nucleus morphology, Cognitive impairment, Ab...	ORPHA:397725
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Limb ataxia, Thalamic calcification, Basal ganglia calcification, Mental deterioration, Cerebella...	OMIM:618824
Immunodeficiency, Common Variable, 8, With Autoimmunity	Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Clubbing of fingers, Colitis, C...	OMIM:614700
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Paresthesia, Hemolytic anemia, Scleritis, Keratoconjunctivit...	ORPHA:95159
Hypohidrotic Ectodermal Dysplasia	Hypohidrosis, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized hypopigmentati...	ORPHA:238468
48,Xxyy Syndrome	Delayed eruption of teeth, Epicanthus, Feeding difficulties in infancy, Taurodontia, Elbow disloc...	ORPHA:10
Melorheostosis With Osteopoikilosis	Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Holocarboxylase Synthetase Deficiency	Alopecia, Keratoconjunctivitis, Nausea and vomiting, Coma, Eczema, Ataxia, Perioral eczema, Anore...	ORPHA:79242
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis, Cutaneous anergy, Premature loss of teeth, Recurrent...	OMIM:114580
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Chronic diarrhea, Malabsorption, Nausea, Abnormal small intestinal mucosa morphology, D...	ORPHA:103907
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Conical tooth, 2-3 toe syndactyly, Nasogastric tube feeding in infancy, Conductive hearing impair...	OMIM:106260
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Micrognathia, Keratoconjunctivitis sicca, Elbow dislocation, Alopecia, Radioulnar ...	ORPHA:536532
Diarrhea 5, With Tufting Enteropathy, Congenital	Crypt hyperplasia, Intractable diarrhea, Villous atrophy	OMIM:613217
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Conjunctivitis, Enamel hypoplasia, Sparse eyebrow, Alopecia, Folliculitis, Scarring alopecia of s...	OMIM:612843
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Wide nasal bridge	OMIM:615524
Pierre Robin Syndrome	Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate	OMIM:261800
Cockayne Syndrome Type 3	Conductive hearing impairment, Premature graying of hair, Keratoconjunctivitis sicca, Elevated he...	ORPHA:90324
Oculomaxillofacial Dysostosis	Underdeveloped nasal alae, Wide nasal bridge, Facial cleft, Micrognathia, Median cleft lip, Cleft...	ORPHA:1794
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Hypoplastic sweat glands, Hypohidrosis, Sparse lateral eyebrow, Trichorrhexis nodosa, Natal tooth...	OMIM:617337
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascul...	OMIM:617388
Dyskeratosis Congenita	Premature graying of hair, Abnormal testis morphology, Neoplasm of the pancreas, Taurodontia, Bon...	ORPHA:1775
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse body hair, Gingivitis, Sparse scalp hair, Periodontitis, Alopecia universalis, Abnormal ey...	ORPHA:1008
Cranioectodermal Dysplasia	High hypermetropia, Finger syndactyly, Epicanthus, Microdontia, Hypodontia, Taurodontia, Clinodac...	ORPHA:1515
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Sensorineural hearing impairment, Long philtrum, Decreased response to gro...	OMIM:616007
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Hypotrichosis 3	Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland morphology, Abnormal eyelash mor...	OMIM:613981
Autosomal Agammaglobulinemia	Conjunctivitis, Osteomyelitis, High palate, Bronchiectasis, Epicanthus, Hepatitis, Skin rash, Art...	ORPHA:33110
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Alopecia, Sparse scalp hair, Absent eyelashes, Hydrocele testis, Abnormality of the nail, Abnorma...	OMIM:607823
Autoimmune Polyendocrinopathy Type 4	Biliary cirrhosis, Keratoconjunctivitis sicca, Celiac disease, Aplasia/Hypoplasia of the spleen, ...	ORPHA:227990
Autoimmune Polyendocrinopathy Type 3	Biliary cirrhosis, Keratoconjunctivitis sicca, Celiac disease, Aplasia/Hypoplasia of the spleen, ...	ORPHA:227982
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Isolated Osteopoikilosis	Tarsal sclerosis, Abnormal bone ossification, Increased bone mineral density, Sclerosis of foot b...	ORPHA:166119
Hyperostosis Corticalis Generalisata	Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis	ORPHA:3416
Abetalipoproteinemia	Progressive visual loss, Fat malabsorption, Keratoconjunctivitis sicca, Elevated hepatic transami...	ORPHA:14
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Leukoencephalopathy, Cerebral cortical atrophy, T2 hypointense thalamus, Dementia, Basal ganglia ...	OMIM:618193
Colorectal Cancer	Neoplasm of the stomach, Uterine leiomyosarcoma, Renal cell carcinoma, Transitional cell carcinom...	OMIM:114500
Congenital Erythropoietic Porphyria	Scleritis, Reticulocytosis, Thrombocytopenia, Corneal ulceration, Splenomegaly, Blindness, Seborr...	ORPHA:79277
Naegeli-Franceschetti-Jadassohn Syndrome	Palmoplantar hyperkeratosis, Decreased number of sweat glands, Subungual hyperkeratosis, Dystroph...	ORPHA:69087
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Hypoplastic toenails, Mandibular prognathia, Sparse scalp hair, Toenail dysplasia, Anem...	ORPHA:2325
Tumor Predisposition Syndrome 1	Renal cell carcinoma, Malignant mesothelioma, Lung adenocarcinoma, Meningioma, Uveal melanoma, Cu...	OMIM:614327
Lacrimoauriculodentodigital Syndrome	Absent thumb, Conductive hearing impairment, Toe syndactyly, Micrognathia, Microdontia, Bifid uvu...	ORPHA:2363
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Epicanthus, Camptodactyly, Babinski sign, Hepatomegaly, Hearing impair...	OMIM:616354
Hypotrichosis 13	Abnormality of dental morphology, Woolly hair, Abnormal sweat gland morphology, Sparse eyelashes,...	OMIM:615896
Oculodentodigital Dysplasia	Camptodactyly of finger, Non-midline cleft lip, Conductive hearing impairment, Epicanthus, Toe sy...	ORPHA:2710
Cronkhite-Canada Syndrome	Tapered finger, Diarrhea, Hepatomegaly, Furrowed tongue, Splenomegaly, Sparse body hair, Alopecia...	ORPHA:2930
Ifap Syndrome 2	Angular cheilitis, Keratoconjunctivitis sicca, Cataract, Keratitis, Photophobia, Sparse hair, Nai...	OMIM:619016
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Conjunctivitis, Downslanted palpebral fissures, Long philtrum, Wide mouth, Microtia, Micrognathia...	OMIM:602562
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Colon...	OMIM:174900
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis, Lymphadenopathy	OMIM:617772
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Corneal opacity, Microcornea	ORPHA:2432
Intellectual Developmental Disorder, Autosomal Dominant 21	Patent ductus arteriosus, Incisor macrodontia, Long philtrum, Epicanthus, Long eyelashes, Single ...	OMIM:615502
Parc Syndrome	Alopecia, Absent eyelashes, Microretrognathia, Absent eyebrow, Cleft palate	OMIM:600331
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Microsporidiosis	Brain abscess, Prostatitis, Biliary tract abnormality, Myositis, Decreased proportion of CD4-posi...	ORPHA:2552
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Abnormal intestine morphology, Protracted diarrhea, Villous atrophy	OMIM:251850
Filippi Syndrome	Serrated incisors, Hypodontia, Microdontia, Abnormality of dental morphology, Short philtrum, Fro...	OMIM:272440
Cockayne Syndrome Type 2	Conjunctivitis, Enamel hypoplasia, Mandibular prognathia, Macrotia, Delayed eruption of primary t...	ORPHA:90322
Frontofacionasal Dysplasia	Non-midline cleft lip, Depressed nasal ridge, Facial cleft, Short nose, Dimple on nasal tip, Depr...	ORPHA:1791
Chromomycosis	Lymphangiectasis, Abnormality of the upper limb, Abnormal oral cavity morphology, Keratoconjuncti...	ORPHA:182
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Gait ataxia, Cognitive impairment, Hyperintensity of cerebral white matter on MRI, Motor deterior...	ORPHA:1947
Hemifacial Atrophy, Progressive	Dental malocclusion, Horner syndrome, Tongue atrophy, Delayed eruption of teeth, Blepharophimosis...	OMIM:141300
Isolated Pierre Robin Syndrome	Micrognathia, Glossoptosis, Cleft palate	ORPHA:718
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate	OMIM:311895
Cerebrooculonasal Syndrome	Abnormal nostril morphology, High palate, Long philtrum, Facial cleft, Widely spaced teeth, Micro...	ORPHA:66625
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Conjunctivitis, Enamel hypoplasia, Alopecia, Anemia, Esophageal stricture, Mitten deformity, Corn...	OMIM:226600
Alpha-Heavy Chain Disease	Alopecia, Anemia, Malabsorption, Premature ovarian insufficiency, Abdominal pain, Lymphadenopathy...	ORPHA:100025
Flynn-Aird Syndrome	Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste...	OMIM:136300
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Gingivitis, Eczema, Palmoplantar hyperkeratosis, Hearing impairment, Dys...	ORPHA:2907
Visceral Myopathy 2	Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Necr...	OMIM:619350
Hypocomplementemic Urticarial Vasculitis	Conjunctivitis, Sensorineural hearing impairment, Diarrhea, Cerebral palsy, Small vessel vasculit...	ORPHA:36412
Eec Syndrome	Hypoplasia of the thymus, Corneal erosion, Anterior hypopituitarism, Microdontia, Inflammatory ab...	ORPHA:1896
Biotinidase Deficiency	Conjunctivitis, Alopecia, Vomiting, Sensorineural hearing impairment, Diarrhea, Skin rash, Decrea...	OMIM:253260
Acrofacial Dysostosis, Catania Type	Facial cleft, Microretrognathia, Short nose, Abnormal palate morphology, Hypoplasia of the zygoma...	ORPHA:1786
Tubulinopathy-Associated Dysgyria	Abnormality of thalamus morphology, Agyria, Cerebellar vermis hypoplasia, Ataxia, Dysgyria, Abnor...	ORPHA:467166
Agammaglobulinemia, X-Linked	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	OMIM:300755
Primary Sjögren Syndrome	Somatic sensory dysfunction, Biliary cirrhosis, Chronic active hepatitis, Keratoconjunctivitis si...	ORPHA:289390
Sandhoff Disease	Blindness, Congestive heart failure, Ataxia, Hearing impairment, Hepatomegaly, Recurrent respirat...	ORPHA:796
Trichothiodystrophy 9, Nonphotosensitive	Dental malocclusion, Sparse eyebrow, Tiger tail banding, Epicanthus, Ataxia, Sparse hair, Brachyd...	OMIM:619692
Renpenning Syndrome	Epicanthus, Iris coloboma, Cleft palate, Alopecia, Round ear, Narrow mouth, Upslanted palpebral f...	ORPHA:3242
Blepharophimosis-Impaired Intellectual Development Syndrome	Tapered finger, Epicanthus, Microdontia, Synophrys, Sparse eyelashes, Feeding difficulties, Thick...	OMIM:619293
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Oral ulcer, Panhypogammaglobulinemia, BCGitis, B lymphocytopenia, Chronic diarrhea, Generalized l...	OMIM:602450
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Cleft upper lip, Depressed nasal ridge, Facial cleft, Optic nerve hypoplasia, Cleft palate, High,...	OMIM:607597
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Abnormal nasolacrimal system morphology, High anterior hairline, Abnorma...	ORPHA:3220
Sarcoidosis	Abnormal lymph node morphology, Abnormal conjunctiva morphology, Bronchiectasis, Keratoconjunctiv...	ORPHA:797
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Vomiting, Diarrhea, Villous atrophy	OMIM:615863
Crimean-Congo Hemorrhagic Fever	Hypotension, Diarrhea, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural ...	ORPHA:99827
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Asplenia, Alopecia, Cirrhosis, Keratoconjunctivitis, Hepatitis, Exocrine pancreatic insu...	OMIM:269200
Facial Clefting, Oblique, 1	Cleft palate, Cleft upper lip, Tessier number 4 facial cleft	OMIM:600251
Otodental Syndrome	Delayed eruption of teeth, Pulp calcification, Taurodontia, Lens coloboma, Iris coloboma, Gingiva...	ORPHA:2791
Cranioectodermal Dysplasia 4	Epicanthus, Cutaneous finger syndactyly, Taurodontia, Onychogryposis, Broad distal phalanx of fin...	OMIM:614378
Lymphoid Interstitial Pneumonia	Bronchiectasis, Rheumatoid arthritis, Skin rash, Keratoconjunctivitis sicca, Hypoxemia, Eczema, S...	ORPHA:79128
Immunodeficiency, Common Variable, 3	Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced...	OMIM:613493
Cach Syndrome	Cerebellar vermis atrophy, Cognitive impairment, Lateral ventricle dilatation, Truncal ataxia, Li...	ORPHA:135
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom...	OMIM:615237
Periodic Fever, Familial, Autosomal Dominant	Conjunctivitis, Oligoarthritis, Vomiting, Chronic diarrhea, Skin rash, Hepatic amyloidosis, Chron...	OMIM:142680
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation	Patent ductus arteriosus, Sensorineural hearing impairment, Broad eyebrow, Abnormal hair morpholo...	OMIM:122430
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Osteochondrosis Of The Metatarsal Bone	Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones	ORPHA:564003
Oculodentodigital Dysplasia	Conductive hearing impairment, Selective tooth agenesis, Epicanthus, Microdontia, Taurodontia, Cl...	OMIM:164200
Zimmermann-Laband Syndrome	Hallux valgus, Micrognathia, Bifid uvula, Hypoplastic fingernail, Large fleshy ears, Hepatomegaly...	ORPHA:3473
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse eyebrow, Hypoplastic sweat glands, Sparse scalp hair, Natal tooth, Hypodontia, Oligodontia...	OMIM:601345
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Hirsutism, Cleft palate, Feeding difficulties, Thick eyebrow, Hearing ...	OMIM:614607
Foveal Hypoplasia 2	Posterior embryotoxon, Axenfeld anomaly, Astigmatism, Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Gombo Syndrome	Microphthalmia	OMIM:233270
Immunodeficiency 104	Recurrent opportunistic infections, Oral ulcer, Gastroesophageal reflux, T lymphocytopenia, Diarr...	OMIM:608971
Anophthalmia Plus Syndrome	Non-midline cleft lip, Facial cleft, Abnormal nasal morphology, Choanal atresia, Cleft palate, Bi...	ORPHA:1104
Frontonasal Dysplasia 3	Underdeveloped nasal alae, Cleft palate, Wide nasal bridge, Facial cleft	OMIM:613456
Polydactyly, Postaxial, Type A6	Abnormality of dental morphology, Abnormality of the nail, Postaxial foot polydactyly, Abnormal s...	OMIM:615226
Agammaglobulinemia 6, Autosomal Recessive	Conjunctivitis, Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, D...	OMIM:612692
Gómez-López-Hernández Syndrome	Brachycephaly, Cognitive impairment, Turricephaly, Abnormal cerebellum morphology, Midface retrus...	ORPHA:1532
Muckle-Wells Syndrome	Conjunctivitis, Camptodactyly of finger, Anemia, Recurrent aphthous stomatitis, Skin rash, Arthri...	ORPHA:575
Lambert Syndrome	Branchial anomaly, Intrauterine growth retardation	ORPHA:1296
Marfanoid-Progeroid-Lipodystrophy Syndrome	Retrognathia, Downslanted palpebral fissures, High palate, Hyperextensibility of the finger joint...	OMIM:616914
Melorheostosis	Arthritis, Increased bone mineral density, Joint stiffness, Hyperostosis, Ectopic ossification in...	ORPHA:2485
Nicolaides-Baraitser Syndrome	Abnormal testis morphology, Eczema, Everted lower lip vermilion, Abnormal hair pattern, Smooth ph...	ORPHA:3051
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD4-positive helper ...	ORPHA:169154
Muenke Syndrome	Dental malocclusion, Downslanted palpebral fissures, Amblyopia, High palate, Sensorineural hearin...	OMIM:602849
Liang-Wang Syndrome	Downslanted palpebral fissures, Megalocornea, Macrodontia of permanent maxillary central incisor,...	OMIM:618729
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Synophrys, Gingival fibromatosis, Ataxia, Hirsutism, Generalized hirsu...	ORPHA:2026
Classic Mycosis Fungoides	Alopecia, Abnormal eyelid morphology, Skin rash, Eczema, Abnormality of the nail, Lymphadenopathy...	ORPHA:2584
Wiskott-Aldrich Syndrome	Sudden cardiac death, Hypoplasia of the thymus, Eczema, Meningitis, Chronic diarrhea, Hematemesis...	ORPHA:906
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Retrognathia, Downslanted palpebral fissures, Epicanthus, Synophrys, Myopia, Clinodactyly of the ...	ORPHA:1390
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Conical tooth, Everted upper lip vermilion, Microdontia, Taurodontia, Eczema, Everted lower lip v...	OMIM:305100
Acrodermatitis Enteropathica	Corneal erosion, Abnormality of the nail, Chronic diarrhea, Furrowed tongue, Abnormality of the t...	ORPHA:37
Alopecia Universalis Congenita	Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair	OMIM:203655
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Joint stiffness, Knee osteoa...	ORPHA:566943
Cockayne Syndrome Type 1	Diarrhea, Widely spaced primary teeth, Elevated hepatic transaminase, Hepatomegaly, Hearing impai...	ORPHA:90321
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Corneal erosion, Abnormality of the anus, Diarrhea, Keratoconjunctivitis sicca, Elevated hepatic ...	ORPHA:95455
Purine Nucleoside Phosphorylase Deficiency	Abnormality of B cell physiology, Cerebral vasculitis, Impaired T cell function, Recurrent viral ...	OMIM:613179
Sclerosteosis	Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:3152
Smith-Magenis Syndrome	Conductive hearing impairment, Toe syndactyly, Micrognathia, Synophrys, Taurodontia, Feeding diff...	ORPHA:819
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Epicanthus, Micrognathia, Sparse eyelashes, Persistent pupillary membr...	OMIM:257850
Developmental And Epileptic Encephalopathy 66	Downslanted palpebral fissures, Anemia, Macrodontia of permanent maxillary central incisor, Wide ...	OMIM:618067
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
49,Xxxxy Syndrome	Delayed eruption of teeth, Epicanthus, Taurodontia, Elbow dislocation, Cleft palate, Talipes equi...	ORPHA:96264
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Pachydermoperiostosis	Peptic ulcer, Abnormal hair pattern, Hepatomegaly, Splenomegaly, Hyperhidrosis, Osteomyelitis, Ar...	ORPHA:2796
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Neurofibromas, Intestinal obstruction, Dysphagia	OMIM:606764
Schimke Immuno-Osseous Dysplasia	Ischemic stroke, Microdontia, Abnormality of primary molar morphology, Abnormal intestine morphol...	ORPHA:1830
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the liver, Nausea and vomiting, Abdominal pain, Ab...	ORPHA:543
Proteasome-Associated Autoinflammatory Syndrome 3	Conjunctivitis, Finger swelling, Anemia, Increased circulating antibody level, Skin rash, Arthrit...	OMIM:617591
Infant Botulism	Hypotension, Diplopia, Mydriasis, Cerebral palsy, Cardiac arrest, Abdominal pain, Keratoconjuncti...	ORPHA:178478
Proteasome-Associated Autoinflammatory Syndrome 1	Camptodactyly of finger, Hallux valgus, Premature graying of hair, Chronic constipation, Elbow fl...	OMIM:256040
Hypotrichosis Simplex	Sparse body hair, Sparse eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Sparse hair	ORPHA:55654
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality	Congenital alopecia totalis, Alopecia universalis, Periodontitis	OMIM:104130
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Sparse eyebrow, Gastroesophageal reflux, Long philtrum, Micrognathia, Synophrys, Keratoconjunctiv...	ORPHA:495875
Hypotrichosis 4	Sparse body hair, Sparse eyebrow, Alopecia, Sparse scalp hair, Uncombable hair, Sparse eyelashes	OMIM:146550
Typhoid	Diarrhea, Coma, Skin rash, Cardiac arrest, Abdominal pain, Ataxia, Epistaxis, Arrhythmia, Tremor,...	ORPHA:99745
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia, Short middle phalanx of the 5th finger, Cutaneous finger syndactyly, Myopia, Large fles...	OMIM:203550
Polymicrogyria Due To Tubb2B Mutation	Gray matter heterotopia, Perisylvian polymicrogyria, Cavum septum pellucidum, Lateral ventricle d...	ORPHA:300573
Trichodentoosseous Syndrome	Widely spaced teeth, Microdontia, Taurodontia, Fragile nails, Abnormal hair morphology	OMIM:190320
Giant Cell Arteritis	Sudden cardiac death, Conductive hearing impairment, Pericarditis, Amaurosis fugax, Meningitis, H...	ORPHA:397
Treacher-Collins Syndrome	Wide nasal bridge, Micrognathia, Tooth agenesis, Cleft palate, Glossoptosis, Abnormal dental enam...	ORPHA:861
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Thick eyebrow, Generalized hirsutism, Hearing imp...	ORPHA:2222
Gm1 Gangliosidosis	Camptodactyly of finger, Hepatosplenomegaly, Hirsutism, Dysphagia, Feeding difficulties, Gingival...	ORPHA:354
48,Xxxy Syndrome	Delayed eruption of teeth, Epicanthus, Taurodontia, Elbow dislocation, Cleft palate, Talipes equi...	ORPHA:96263
Yao Syndrome	Oral ulcer, Diarrhea, Inflammatory abnormality of the skin, Arthritis, Skin rash, Keratoconjuncti...	OMIM:617321
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Abnormality of the orbital region, Increased circulating IgG4 level...	ORPHA:79078
Aggressive Systemic Mastocytosis	Hypotension, Diarrhea, Hepatosplenomegaly, Decreased liver function, Thrombocytopenia, Abdominal ...	ORPHA:98850
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent Haemophilus influenzae infections, Diarrhea, Absent tonsils, Hepatomegaly, Decreased pr...	ORPHA:276
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Epicanthus, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Bone marrow hypocellularity, Thrombo...	ORPHA:505248
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Abnormal bleeding, Biliary tra...	ORPHA:79301
Zygomycosis	Brain abscess, Diarrhea, Fasciitis, Blurred vision, Pericarditis, Gastritis, Colitis, Chemosis, H...	ORPHA:73263
Cohen Syndrome	Tapered finger, Micrognathia, Feeding difficulties in infancy, Thick eyebrow, Nyctalopia, Myopia,...	OMIM:216550
Lowry-Maclean Syndrome	Retrognathia, Talon cusp, Downslanted palpebral fissures, Megalocornea, Developmental glaucoma, D...	ORPHA:2409
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Cleft upper lip, Facial cleft, Bilateral cleft lip, Bilateral cleft palate, Absent septum pellucidum	OMIM:601357
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom...	OMIM:606719
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Conjunctivitis, Recurrent opportunistic infections, Panhypogammaglobulinemia, Purulent rhinitis, ...	OMIM:601457
Hypotrichosis 11	Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars...	OMIM:615059
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Microphthalmia	OMIM:120433
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Cerebral cortical atrophy, Cerebellar hypoplasia, Simplified gyral pattern, Decreased thalamic vo...	OMIM:619072
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Waldenström Macroglobulinemia	Diarrhea, Hepatomegaly, Hearing impairment, Splenomegaly, Abnormal retinal vascular morphology, N...	ORPHA:33226
Alpha-Mannosidosis	Dental malocclusion, Splenomegaly, Mandibular prognathia, Narrow palate, Macrotia, Widely spaced ...	ORPHA:61
Camptodactyly Syndrome, Guadalajara Type 1	Camptodactyly of finger, Hallux valgus, Epicanthus, Toe syndactyly, Synophrys, Scapular winging, ...	ORPHA:1327
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microphthalmia, Microcornea	ORPHA:2528
Trichothiodystrophy 3, Photosensitive	Tiger tail banding, Trichorrhexis nodosa, Natal tooth, Brittle hair, Bilateral cryptorchidism, Py...	OMIM:616395
Listeriosis	Septic arthritis, Somatic sensory dysfunction, Brain abscess, Diarrhea, Unusual CNS infection, Pe...	ORPHA:533
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Gait ataxia, Long philtrum, Synophrys, Keratoconjunctivitis sicca, Tented philtrum, Long eyelashe...	OMIM:618479
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula	OMIM:221400
Alopecia Universalis	Absent eyelashes, Alopecia universalis, Absent eyebrow, Patchy alopecia	ORPHA:701
Intellectual Disability, Birk-Barel Type	Incisor macrodontia, Congenital finger flexion contractures, Micrognathia, Limited elbow flexion/...	ORPHA:166108
Immunodeficiency 46	Conjunctivitis, Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Recurrent...	OMIM:616740
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures	OMIM:166740
Thumb Deformity And Alopecia	Solitary median maxillary central incisor, Short thumb, Alopecia	OMIM:188150
Sulfite Oxidase Deficiency, Isolated	Cerebral visual impairment, Sulfite oxidase deficiency, Macrotia, Delayed eruption of teeth, Chor...	OMIM:272300
Generalized Eruptive Keratoacanthoma	Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology, Ectropion, Dysphagia	ORPHA:411777
Arboleda-Tham Syndrome	Recurrent aspiration pneumonia, Epicanthus, Prominent antihelix, Short hallux, Anteverted ears, D...	OMIM:616268
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Conjunctivitis, Sparse eyebrow, Sparse eyelashes, Folliculitis, Scarring alopecia of scalp, Palmo...	OMIM:308800
Reynolds Syndrome	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Mucosal telangiectasiae, ...	ORPHA:779
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Blindness, Pili torti, Reduced terminal:vellus ratio, Reduced visual acuity, Sparse hair	OMIM:601553
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Premature graying of hair, Bone marrow hypocellularity, Sparse eyelashes,...	OMIM:305000
Squamous Cell Carcinoma Of The Esophagus	Nausea and vomiting, Feeding difficulties in infancy, Clinodactyly of the 5th toe, Lymphadenopath...	ORPHA:99977
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Sensorineural hearing impairment, Delayed eruption of teeth, Iris hypopigmentation, Taurodontia, ...	ORPHA:3214
Alexander Disease Type I	Rosenthal fibers, Ataxia, Abnormal cerebral white matter morphology, Focal T2 hyperintense basal ...	ORPHA:363717
Coffin-Siris Syndrome 3	Sparse scalp hair, High palate, Long philtrum, Wide mouth, Poor suck, Long eyelashes, Macroglossi...	OMIM:614608
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conductive hearing impairment, Delayed eruption of teeth, Thyroid lymphangiectasia, Epicanthus, C...	OMIM:235510
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Autosomal Recessive Dopa-Responsive Dystonia	Gait ataxia, Postural tremor, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Abnormali...	ORPHA:101150
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Patent ductus arteriosus, Macrotia, Amblyopia, Hyperextensibility of the finger joints, Widely sp...	OMIM:619797
Vici Syndrome	Abnormal posturing, Everted upper lip vermilion, T lymphocytopenia, Epicanthus, Ocular albinism, ...	OMIM:242840
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis	OMIM:607634
Short Stature-Wormian Bones-Dextrocardia Syndrome	Patent ductus arteriosus, Abnormality of the philtrum, Spasticity, Downslanted palpebral fissures...	ORPHA:2863
Auriculocondylar Syndrome 2	Hypoplastic superior helix, Dental malocclusion, Cleft at the superior portion of the pinna, Mand...	OMIM:614669
Cardiofaciocutaneous Syndrome 1	Progressive visual loss, Epicanthus, Oculomotor apraxia, Micrognathia, Feeding difficulties in in...	OMIM:115150
Roifman Syndrome	Short toe, Long philtrum, Decreased T cell activation, Decreased circulating antibody level, Brac...	ORPHA:353298
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Conjunctivitis, Alopecia, Cirrhosis, Sensorineural hearing impairment, Elevated hepatic transamin...	OMIM:242150
Crouzon Syndrome	Conjunctivitis, Conductive hearing impairment, Narrow palate, Narrow internal auditory canal, Amb...	ORPHA:207
Gastrointestinal Stromal Tumor	Neoplasm of the stomach, Neoplasm of the gastrointestinal tract, Sarcoma, Neoplasm of the rectum,...	ORPHA:44890
Wild Type Abeta2M Amyloidosis	Paresthesia, Abnormality of the thenar eminence, Arthritis, Macroglossia, Congestive heart failur...	ORPHA:85446
Sézary Syndrome	Alopecia, Abnormal immunoglobulin level, Nail dystrophy, Lymphadenopathy, Tremor, Ectropion, Hepa...	ORPHA:3162
Xeroderma Pigmentosum, Complementation Group D	Conjunctivitis, Spasticity, Telangiectasia, Sensorineural hearing impairment, Entropion, Choreoat...	OMIM:278730
Peroxisome Biogenesis Disorder 5A (Zellweger)	Epicanthus, Micrognathia, Feeding difficulties in infancy, Camptodactyly, Hepatosplenomegaly, Int...	OMIM:614866
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short 5th finger, Epicanthus, Everted lower lip vermilion, Hypoplastic fingernail, Bilateral sens...	OMIM:220500
Shigellosis	Bloody diarrhea, Thrombocytopenia, Pneumonia, Corneal ulceration, Acute colitis, Sepsis, Abscess,...	ORPHA:810
Galactosemia	Diarrhea, Elevated hepatic transaminase, Action tremor, Hepatomegaly, Primary amenorrhea, Feeding...	ORPHA:352
Autoimmune Lymphoproliferative Syndrome, Type Iia	Coombs-positive hemolytic anemia, Hepatomegaly, Eosinophilia, Elevated proportion of CD4-negative...	OMIM:603909
Muckle-Wells Syndrome	Conjunctivitis, Recurrent aphthous stomatitis, Progressive sensorineural hearing impairment, Club...	OMIM:191900
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse body hair, Sparse eyebrow, Hypohidrosis, Curly hair, Pili torti, Brittle hair, Corneal opa...	OMIM:602400
Lung Cancer	Lung adenocarcinoma, Alveolar cell carcinoma, Non-small cell lung carcinoma	OMIM:211980
Zika Virus Disease	Conjunctivitis, Wrist swelling, Myelitis, Vomiting, Transient hearing impairment, Subcutaneous he...	ORPHA:448237
H Syndrome	Facial telangiectasia, Hallux valgus, Bronchiectasis, Camptodactyly, Hepatosplenomegaly, Psoriasi...	ORPHA:168569
Oculofaciocardiodental Syndrome	2-3 toe syndactyly, Delayed eruption of teeth, Feeding difficulties in infancy, Ectopia lentis, I...	ORPHA:2712
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Ataxia, Hypoplasia of the pons, Microcephaly, Cerebellar atrophy, Dysplastic corpus callosum	OMIM:618276
Craniofaciofrontodigital Syndrome	Palmoplantar cutis laxa, Finger joint hypermobility, Epicanthus, Gingival overgrowth, Thick hair,...	ORPHA:363705
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Toe syndactyly, Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Sparse hair, Abnormal denta...	ORPHA:3253
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Diarrhea, Fasciitis, Pericarditis, Myositis, Intestinal obstruction, Splenomegaly, Skin rash, Art...	ORPHA:32960
Oliver-Mcfarlane Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Central heterochromia, Long eyeb...	OMIM:275400
Inhalational Anthrax	Hypotension, Vomiting, Internal hemorrhage, Abnormal sweat gland morphology, Confusion, Sepsis	ORPHA:247257
Erythermalgia, Primary	Hyperhidrosis, Diarrhea, Blurred vision, Keratoconjunctivitis sicca, Palpitations, Xerostomia, Co...	OMIM:133020
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Porphyria, Congenital Erythropoietic	Conjunctivitis, Alopecia, Hemolytic anemia, Joint contracture of the hand, Corneal scarring, Jaun...	OMIM:263700
Neuroferritinopathy	Chorea, Iron accumulation in substantia nigra, Abnormal dentate nucleus morphology, Cognitive imp...	ORPHA:157846
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph...	OMIM:269400
Hidrotic Ectodermal Dysplasia	Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Clubbing of fingers, Absent ...	ORPHA:189
Kury-Isidor Syndrome	Downslanted palpebral fissures, Alopecia, High palate, Long philtrum, Low-set ears, Widely spaced...	OMIM:619762
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia	OMIM:278780
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Bronchiectasis, Micrognathia, Recurrent sinusitis, Eczema, Eosinophilia, Recurrent skin infection...	OMIM:618282
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Abnormality of thalamus morphology, Lateral ventricle dilatation, Primary microce...	ORPHA:300570
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Diarrhea, Arthritis, Abdominal pain, Acrocyanosis, Purpura, Ataxia...	ORPHA:343
Mcdonough Syndrome	Short palpebral fissure, Dental malocclusion, Mandibular prognathia, Macrotia, Micrognathia, Syno...	ORPHA:2471
Multiple Carboxylase Deficiency	Alopecia, Coma, Skin rash, Decreased circulating biotinidase concentration, Scotoma, Ataxia, Abno...	ORPHA:148
Leukocyte Adhesion Deficiency	Gingivitis, Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neutrophil chemota...	ORPHA:2968
Progeria-Short Stature-Pigmented Nevi Syndrome	Progressive visual loss, T lymphocytopenia, Selective tooth agenesis, Micrognathia, Neoplasm of t...	ORPHA:2959
Pili Torti-Onychodysplasia Syndrome	Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Alopecia universalis, Eczema, Trichod...	ORPHA:2890
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Spasticity, Sensorineural hearing impairment, Micrognathia, Developmental cataract, Ups...	OMIM:215100
Classic Galactosemia	Diarrhea, Elevated hepatic transaminase, Action tremor, Hepatomegaly, Primary amenorrhea, Feeding...	ORPHA:79239
Snijders Blok-Campeau Syndrome	Enamel hypoplasia, Cerebral visual impairment, High palate, Widely spaced teeth, Epicanthus, Taur...	OMIM:618205
Corneal Dystrophy, Groenouw Type I	Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy	OMIM:121900
Roifman Syndrome	Downslanted palpebral fissures, Short toe, Long philtrum, Short metacarpal, Brachydactyly, Short ...	OMIM:616651
Classic Glucose Transporter Type 1 Deficiency Syndrome	Chorea, Cyanosis, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus, Choreoa...	ORPHA:71277
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Sclerocornea	ORPHA:139471
Anterior Segment Dysgenesis 5	Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior...	OMIM:604229
Hypomelanosis Of Ito	Alopecia, Epicanthus, Thick lower lip vermilion, Clinodactyly, Hand polydactyly, Syndactyly, Iris...	OMIM:300337
Kawasaki Disease	Diarrhea, Pericarditis, Meningitis, Cervical lymphadenopathy, Skin rash, Arthritis, Abdominal pai...	ORPHA:2331
African Trypanosomiasis	Somatic sensory dysfunction, Impotence, Delirium, Diarrhea, Iritis, Choreoathetosis, Hepatospleno...	ORPHA:3385
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Camptodactyly of finger, Alopecia, Triphalangeal thumb, Finger syndactyly, Short thumb, Abnormali...	ORPHA:2251
Hermansky-Pudlak Syndrome	Ocular albinism, Iris hypopigmentation, Abnormal dental enamel morphology, Amblyopia, Abdominal p...	ORPHA:79430
Epithelial Recurrent Erosion Dystrophy	Progressive visual loss, Irregular astigmatism, Corneal scarring, Blurred vision, Keratoconjuncti...	ORPHA:293381
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Abnormal nasolacrimal system morphology, Corneal erosion, Scleritis, Ecz...	ORPHA:2273
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma...	ORPHA:2889
Distal Osteosclerosis	Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis	OMIM:126250
Vascular Hyalinosis	Malabsorption, Protein-losing enteropathy, Hematochezia, Diarrhea	OMIM:277175
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Restrictive cardiomyopathy, Epicanthus, Clinodactyly, Camptodactyly, Osteolysis involvi...	ORPHA:88630
Antisynthetase Syndrome	Pulmonary arterial hypertension, Recurrent respiratory infections, Skin rash, Telangiectasia of t...	ORPHA:81
Adult Syndrome	Conjunctivitis, Sparse scalp hair, Fair hair, Hypodontia, Microdontia, Oligodontia, Sparse axilla...	OMIM:103285
Systemic Lupus Erythematosus 17	Chorea, Malar rash, Oral ulcer, Myelitis, Alopecia, Leukopenia, Raynaud phenomenon, Lymphopenia, ...	OMIM:301080
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Downslanted palpebral fissures, Mandibular prognathia, High palate, Deep philtrum, Decreased circ...	OMIM:619750
Mucopolysaccharidosis Type 3	Conductive hearing impairment, Abnormality of the middle ear ossicles, Synophrys, Adenoiditis, Hi...	ORPHA:581
Dysplastic Cortical Hyperostosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Carney-Stratakis Syndrome	Intestinal obstruction, Gastrointestinal hemorrhage, Paraganglioma, Dysphagia, Gastrointestinal s...	ORPHA:97286
Omenn Syndrome	Alopecia, Anemia, Aplasia/Hypoplasia of the eyebrow, Chronic diarrhea, Short toe, Thyroiditis, Ab...	ORPHA:39041
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Poor fine motor coordination, Dental malocclusion, Downslanted palpebral fissures, Macrotia, Prog...	ORPHA:436245
Fanconi Anemia, Complementation Group S	Thick upper lip vermilion, Dental malocclusion, Anemia, Narrow palate, Epicanthus, Blepharophimos...	OMIM:617883
Aarskog-Scott Syndrome	Camptodactyly of finger, Delayed eruption of teeth, Epicanthus, Everted lower lip vermilion, Clef...	ORPHA:915
Microphthalmia, Isolated 6	Microphthalmia, Microcornea	OMIM:613517
Atypical Pantothenate Kinase-Associated Neurodegeneration	Chorea, Spasticity, Abnormal pyramidal sign, Blindness, Parkinsonism, Rigidity, Limb dystonia, Cl...	ORPHA:216873
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent EBV viremia, Severe varicella zoster infection, Decreased proportion of CD4-positive h...	OMIM:300853
Biotinidase Deficiency	Conjunctivitis, Alopecia, Recurrent candida infections, Sensorineural hearing impairment, Nonprog...	ORPHA:79241
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Epicanthus, Micrognathia, Everted lower lip vermilion, Smooth philtrum, Hepatomegaly, Overjet, Hi...	OMIM:618342
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Trichinellosis	Central retinal artery occlusion, Babinski sign, Meningitis, Tinnitus, Dysphagia, Lethargy, Skin ...	ORPHA:863
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia, Short nose	OMIM:613885
Hereditary Sensory And Autonomic Neuropathy Type 4	Septic arthritis, Somatic sensory dysfunction, Recurrent aspiration pneumonia, Recurrent Staphylo...	ORPHA:642
Ectodermal Dysplasia And Immunodeficiency 2	Conical tooth, Hypohidrosis, Sparse scalp hair, Hypodontia, Anhidrosis, Aplasia of the sweat glan...	OMIM:612132
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Tubulointerstitial nephritis, Cleft upper lip, Conjunctivitis, Corneal ...	ORPHA:33001
Selective Igm Deficiency	Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro...	ORPHA:331235
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Downslanted palpebral fissures, High palate, Delayed eruption of teeth, Synophrys, Abnormality of...	ORPHA:2025
Diarrhea 12, With Microvillus Atrophy	Vomiting, Villous atrophy, Microvillus inclusions, Secretory diarrhea, Microvillar PAS-positive s...	OMIM:619445
Scrub Typhus	Hypotension, Hyperhidrosis, Nausea and vomiting, Skin rash, Abdominal pain, Abnormal bleeding, Ph...	ORPHA:83317
Adams-Oliver Syndrome	Hypoplastic fingernail, Hypertonia, Absent toe, Thrombocytopenia, Aplastic/hypoplastic toenail, S...	ORPHA:974
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp, Perifolliculitis	OMIM:260910
Li-Fraumeni Syndrome	Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo...	OMIM:151623
Dermatitis, Atopic	Conjunctivitis, Allergic rhinitis, Eczema, Cataract, Recurrent skin infections, Keratoconus, Atop...	OMIM:603165
Whipple Disease	Hypotension, Diarrhea, Pericarditis, Myositis, Hepatomegaly, Splenomegaly, Arthritis, Abdominal p...	ORPHA:3452
Frontonasal Dysplasia 2	Conical tooth, Aplasia of the nasal bone, Depressed nasal ridge, Wide nasal bridge, Cleft ala nas...	OMIM:613451
Familial Cold Autoinflammatory Syndrome 1	Conjunctivitis, Aphthous ulcer, Skin rash, Arthritis, Uveitis, Leukocytosis, Hearing impairment	OMIM:120100
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os...	OMIM:166600
Ectodermal Dysplasia-Syndactyly Syndrome 1	Conical tooth, Enamel hypoplasia, Alopecia, Sparse scalp hair, Small nail, Pili torti, Hypoplasti...	OMIM:613573
Trichorhinophalangeal Syndrome, Type I	Ivory epiphyses of the distal phalanges of the hand, Leukonychia, Delayed eruption of teeth, Micr...	OMIM:190350
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Low alkaline phosphatase, Diarrhea, Hypogonadism, Poor appetite, Decreased testicular size, Ataxi...	OMIM:201100
Alopecia Areata 1	Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia	OMIM:104000
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Hypertelorism, Plagiocephaly, Chiari type I malformation, Agenesis of corpus callosum	ORPHA:459074
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Microphthalmia	OMIM:610023
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:615113
Anencephaly 2	Anophthalmia	OMIM:619452
Cri-Du-Chat Syndrome	Premature graying of hair, Epicanthus, Feeding difficulties in infancy, Bifid uvula, Hypertonia, ...	OMIM:123450
Erythrokeratodermia Variabilis	Alopecia, Tapered finger, Abnormal testis morphology, Skin rash, Abnormality of the nail, Patchy ...	ORPHA:317
Hamamy Syndrome	Neck pterygia, Short 2nd finger, Tapered finger, Micrognathia, Everted lower lip vermilion, Hypop...	OMIM:611174
Cln3 Disease	Progressive visual loss, Amblyopia, Blindness, T-wave inversion, Ataxia, Cataract, Hirsutism, Bra...	ORPHA:228346
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Enamel hypoplasia, Alopecia, Telangiectasia, Sparse lateral eyebrow, Facial telangiectasia, Yello...	OMIM:614564
Aredyld Syndrome	Sparse body hair, Mandibular prognathia, Aplasia/Hypoplasia of the eyebrow, Abnormal tragus morph...	ORPHA:1133
Pediatric Systemic Lupus Erythematosus	Diarrhea, Myositis, Thrombocytopenia, Malar rash, Alopecia, Discoid lupus rash, Skin rash, Arthri...	ORPHA:93552
Autosomal Dominant Keratitis	Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov...	ORPHA:2334
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Eczema, Hepatosplenomegaly, Erythroderma, Chronic diarrhea, Recurrent viral in...	OMIM:606367
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Fusion of the left and right thalami, Agenesis of corpus callosum, Abnorm...	OMIM:617542
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Retrognathia, Spasticity, Cerebral visual impairment, High palate, Tapered finger, Wide mouth, Ep...	OMIM:615722
Cinca Syndrome	Anemia, Sensorineural hearing impairment, Blindness, Abnormal granulocyte morphology, Nausea and ...	ORPHA:1451
Craniodiaphyseal Dysplasia, Autosomal Dominant	Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis	OMIM:122860
Hemochromatosis, Type 2A	Cirrhosis, Arthritis, Infertility, Azoospermia, Congestive heart failure, Dilated cardiomyopathy,...	OMIM:602390
Incontinentia Pigmenti	Camptodactyly of finger, Delayed eruption of teeth, Hemiplegia/hemiparesis, Supernumerary nipple,...	ORPHA:464
Momo Syndrome	Dental malocclusion, Downslanted palpebral fissures, High palate, Long philtrum, Blindness, Delay...	OMIM:157980
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Anemia, Chronic diarrhea, Severe infection, Villous atrophy, Hepatitis, Arthritis, Coom...	OMIM:304790
Nanophthalmos	Microphthalmia	ORPHA:35612
Griscelli Syndrome	Leukopenia, Spasticity, Abnormal eyebrow morphology, Premature graying of hair, Decreased circula...	ORPHA:381
Craniosynostosis 3	Dental malocclusion, Hallux valgus, Ptosis, Single transverse palmar crease, Brachydactyly, Low a...	OMIM:615314
Chronic Graft Versus Host Disease	Diarrhea, Bronchiectasis, Fasciitis, Keratoconjunctivitis sicca, Elevated hepatic transaminase, A...	ORPHA:99921
Hypodontia-Dysplasia Of Nails Syndrome	Conical tooth, Hypoplastic toenails, Delayed eruption of teeth, Hypodontia, Abnormality of dental...	ORPHA:2228
Juvenile Neuronal Ceroid Lipofuscinosis	Cognitive impairment, Motor deterioration, Dementia, Abnormal cerebral white matter morphology, F...	ORPHA:79264
Ogden Syndrome	Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Macrotia, Everted upper lip ve...	ORPHA:276432
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Gait ataxia, Dental malocclusion, Downslanted palpebral fissures, Mandibular prognathia, High pal...	OMIM:618292
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Widely spaced teeth, Attenuation of retinal blood vessels, Cataract, Attache...	OMIM:616108
Severe Canavan Disease	Gastroesophageal reflux, Spasticity, Vomiting, Blindness, Gastrostomy tube feeding in infancy, Po...	ORPHA:314911
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Neoplasm of the rectum, Intestinal bleeding, Anal canal adenocarcinoma, Ne...	ORPHA:424016
Bullous Dystrophy, Hereditary Macular Type	Tapered finger, Short finger, Acrocyanosis, Alopecia totalis, Abnormality of the nail	OMIM:302000
Juvenile Temporal Arteritis	Conjunctivitis, Cerebral ischemia, Allergic rhinitis, Eosinophilia, Leukocytosis, Vasculitis	ORPHA:26137
Alopecia Areata 2	Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis	OMIM:610753
Temple-Baraitser Syndrome	Everted upper lip vermilion, Delayed eruption of teeth, Epicanthus, Everted lower lip vermilion, ...	ORPHA:420561
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Nausea and vomiting, Coma, Abdominal pain, Choreoathetosis, Pancreatitis, Anorexia, Feedi...	ORPHA:79312
Lynch Syndrome 8	Colon cancer, Adenomatous colonic polyposis, Endometrial carcinoma, Hereditary nonpolyposis color...	OMIM:613244
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Diarrhea, Abnormal testis morphology, Hepatosplenomegaly, Oligosp...	ORPHA:85450
Monosomy 18P	Abnormal antihelix morphology, Alopecia, Macrotia, Epicanthus, Micrognathia, Hypodontia, Short ph...	ORPHA:1598
Alopecia-Intellectual Disability Syndrome	Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Macrotia, Hyper...	ORPHA:2850
Gaba-Transaminase Deficiency	Retrognathia, Downslanted palpebral fissures, Feeding difficulties, Lethargy	OMIM:613163
Usmani-Riazuddin Syndrome, Autosomal Recessive	Spasticity, High palate, Epicanthus, Posteriorly rotated ears, Low-set ears, Conjunctival hyperemia	OMIM:619548
Otodental Dysplasia	Enamel hypoplasia, Sensorineural hearing impairment, Long philtrum, Delayed eruption of teeth, Pu...	OMIM:166750
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Deep philtrum, Short metacarpal, Microdontia, Synophrys, Clinodactyly, Radioulnar syn...	OMIM:605282
Catifa Syndrome	Amblyopia, Long philtrum, Delayed eruption of teeth, Epicanthus, Microtia, Camptodactyly, Develop...	OMIM:618761
Marburg Hemorrhagic Fever	Hypotension, Bloody diarrhea, Diarrhea, Elevated hepatic transaminase, Reticulocytosis, Pericardi...	ORPHA:99826
Rubinstein-Taybi Syndrome 1	Polydactyly, Epicanthus, Micrognathia, Broad eyebrow, Feeding difficulties in infancy, Frontal hi...	OMIM:180849
22Q11.2 Deletion Syndrome	Conductive hearing impairment, Hypoplasia of the thymus, Epicanthus, Micrognathia, Feeding diffic...	ORPHA:567
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Conjunctivitis, Septic arthritis, Enteroviral dermatomyositis syndrome, Panhypogammaglobulinemia,...	OMIM:307200
Congenital Primary Aphakia	Sclerocornea, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Conge...	ORPHA:83461
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Crusting erythematous dermatitis, Elevated hepatic transaminase, Eczema, Myositis, Abnormal intes...	ORPHA:37042
Glut1 Deficiency Syndrome 1	Spasticity, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babi...	OMIM:606777
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti...	ORPHA:500166
Oculocerebrocutaneous Syndrome	Aplasia/Hypoplasia of the corpus callosum, Wide mouth, Facial cleft, Cerebellar hypoplasia, Orofa...	ORPHA:1647
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Abnormal basal ganglia morphology, Decreased thalamic volume	OMIM:618646
Short Syndrome	Abnormal pupil morphology, Alopecia, Abnormal anterior chamber morphology, Abnormal mandible morp...	ORPHA:3163
Hermansky-Pudlak Syndrome 2	Enlarged platelet dense granules, Epicanthus, Ocular albinism, Fair hair, Impaired ADP-induced pl...	OMIM:608233
Hypohidrosis With Abnormal Palmar Dermal Ridges	Decreased number of sweat glands, Hypohidrosis, Abnormal palmar dermal ridges	OMIM:241120
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair	ORPHA:505
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Ceroid Lipofuscinosis, Neuronal, 3	Progressive visual loss, Blindness, Concentric hypertrophic cardiomyopathy, Parkinsonism, Abnorma...	OMIM:204200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Cataract, Iris coloboma, Microphthalmia, Corneal opacity	ORPHA:1473
Hypermobile Ehlers-Danlos Syndrome	Gingivitis, Epicanthus, Microdontia, Keratoconjunctivitis sicca, Abnormality of the wrist, Elbow ...	ORPHA:285
Congenital Muscular Dystrophy With Cerebellar Involvement	Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Gray matter heterotopia, Abnormal...	ORPHA:370959
Colorectal Cancer, Susceptibility To, 10	Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma	OMIM:612591
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Short palpebral fissure, Long philtrum, Myopia, High myopia, Hypertension, Broad distal phalanx o...	OMIM:617763
Robin Sequence-Oligodactyly Syndrome	Micrognathia, Glossoptosis, Cleft palate, Abnormality of the dentition	ORPHA:3104
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Corneal opacity, Microphthalmia, Decreased corneal thickness, Flat cornea, Scleroc...	OMIM:217300
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level	OMIM:235550
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