Gene Summary

catenin (cadherin associated protein), beta 1
beta-catenin,  beta catenin,  Catnb

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 System Allele Zyg Sex Life Stage P Value
abnormal head morphology Ctnnb1Bfc HET Early adult 9.73×10-11
abnormal startle reflex Ctnnb1Bfc HET Early adult 3.60×10-09
increased bone mineral density Ctnnb1Bfc HET Early adult 1.44×10-07
increased startle reflex Ctnnb1Bfc HET Early adult 2.51×10-08
abnormal cranium morphology Ctnnb1Bfc HET   Early adult 7.65×10-06
abnormal bone mineralization Ctnnb1Bfc HET Early adult 1.90×10-08

Download data as:  TSV  XLS

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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.

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

Disease Similarity of
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
Enlarged pituitary gland, Increased circulating prolactin concentration, Neoplasm of the anterior... ORPHA:54595
Medulloblastoma OMIM:155255
Pilomatrixoma OMIM:132600
Hepatocellular Carcinoma
Hepatocellular carcinoma OMIM:114550
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

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

Disease Similarity of
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
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
Increased bone mineral density OMIM:166450
Brain abscess, Inflammatory abnormality of the eye, Meningitis, Cervical lymphadenopathy, Thrombo... ORPHA:3392
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
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
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
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
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
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
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
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
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
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
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
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
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
Bloody diarrhea, Thrombocytopenia, Pneumonia, Corneal ulceration, Acute colitis, Sepsis, Abscess,... ORPHA:810
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
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
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
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
Cerebroretinal Microang