Gene Summary

catenin beta 1
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 startle reflex Ctnnb1Bfc HET Early adult 3.60×10-09
increased bone mineral density Ctnnb1Bfc HET Early adult 1.44×10-07
abnormal head morphology Ctnnb1Bfc HET Early adult 9.73×10-11
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, Renal cell carcinoma, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Desmoid Tumor
Intestinal obstruction, Sepsis, Gastrointestinal hemorrhage, Intestinal polyposis, Abdominal pain... ORPHA:873
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Vitreous floaters, Cataract, Hearing impairment, Reduced visual acuity, P... ORPHA:891
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Hypoplasia of the corpus callosum, High palate, Broad nasal tip, Long philtrum, Primary microceph... OMIM:615075
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Hypoplasia of the corpus callosum, Low hanging columella, Microcephaly, Broad nasal tip, Smooth p... ORPHA:404473
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Enlarged pituitary gland, Abnormal frontal bone morphology, Cerebral calcification, Pituitary hyp... ORPHA:54595
Medulloblastoma OMIM:155255
Hepatocellular Carcinoma
Hepatocellular carcinoma OMIM:114550
Pilomatrixoma OMIM:132600
Pilomatrixoma, Neoplasm of head and neck ORPHA:91414
Adrenocortical Carcinoma
Abdominal pain, Abnormality of reproductive system physiology, Hypertension, Adrenocorticotropic ... ORPHA:1501
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Abdominal pain, Vomiting, Portal vein thrombosis, Hepatic necrosis, Hepatic fibrosis 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
Basal cell carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Bladder neopl... 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
Basal cell carcinoma, Adenoma sebaceum, Ovarian neoplasm, Malignant genitourinary tract tumor, Be... OMIM:158320
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, ... ORPHA:247798
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Brain neoplasm, Aden... ORPHA:447877
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,... ORPHA:454840
Hereditary Mixed Polyposis Syndrome
Thyroid carcinoma, Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, ... ORPHA:157794
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Breast carcinoma, Colorectal polyposis OMIM:135290
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ... ORPHA:247806
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nail dystrophy, Female hypogonadism, Reduced visual acuity, Constriction of peripheral visual fie... OMIM:240300
Rapp-Hodgkin Syndrome
Nail dystrophy, Decreased number of sweat glands, Small nail, Microdontia, Bifid uvula, Syndactyl... OMIM:129400
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Agel Amyloidosis
Bilateral ptosis, Nail dystrophy, Blepharochalasis, Corneal ulceration, Depression, Xerostomia, A... ORPHA:85448
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Leukemia,... OMIM:276300
Retrognathia, Ectropion, Ridged nail, Panhypogammaglobulinemia, Clubbing, Cardiomyopathy, Recurre... ORPHA:33364
Attenuated Familial Adenomatous Polyposis
Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c... ORPHA:220460
Increased bone mineral density OMIM:166450
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Iris coloboma OMIM:611638
Increased bone mineral density OMIM:265880
Basal Ganglia Calcification, Idiopathic, 5
Memory impairment, Cerebellar calcifications, Chorea, Athetosis, Thalamic calcification, Cerebral... OMIM:615483
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Skin rash, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Pulm... ORPHA:809
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Diarrhea, Recurren... OMIM:240500
Kid Syndrome
Nail dystrophy, Corneal neovascularization, Prelingual sensorineural hearing impairment, Visual l... ORPHA:477
Trichothiodystrophy 1, Photosensitive
Retrognathia, Nail dystrophy, Intestinal obstruction, Small nail, Chronic diarrhea, Sparse hair, ... OMIM:601675
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Chronic diarrhea, Abnormal intestine morpholog... OMIM:619079
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Retrognathia, Brittle hair, Small nail, Abn... OMIM:234050
Cervical lymphadenopathy, Pneumonia, Mediastinal lymphadenopathy, Lymphadenopathy, Increased circ... ORPHA:3392
Jejunal Atresia
Jejunal atresia OMIM:243600
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Nail dysplasia, Recurrent corneal erosions, Nail dystrophy, Sensorineural hearing impairment, Rec... 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
Familial Adenomatous Polyposis 1
Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc... OMIM:175100
X-Linked Agammaglobulinemia
Chronic otitis media, Chronic diarrhea, Skin rash, Sensorineural hearing impairment, Glossoptosis... ORPHA:47
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Abnormality of vision, Microcornea, Abnormality of the dentition, Blindness, C... ORPHA:1806
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Basal cell carcinoma, Squamous cell carcinoma, Stomach cancer, Renal cell ca... ORPHA:79501
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Hypotrichosis 5
Hearing abnormality, Absent pubic hair, Abnormal sweat gland morphology, Abnormality of the nail,... OMIM:612841
Odonto-Onycho Dysplasia-Alopecia Syndrome
Tooth malposition, Microdontia, Tooth agenesis, Abnormal dental morphology, Sparse body hair, Spa... ORPHA:2722
Gist-Plus Syndrome
Intussusception, Intestinal polyposis, Gastrointestinal stroma tumor OMIM:175510
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Memory impairment, Chorea, Mental deterioration, Thalamic calcification, Cerebellar dentate nucle... OMIM:618317
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Microphthalmia/Coloboma 3
Cataract, Microphthalmia, Iris coloboma OMIM:610092
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Cleft palate, Glossoptosis OMIM:261800
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Abnormality of t... OMIM:602032
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Narrow mouth, Microcephaly, Cleft upper lip, Micrognathia, Cleft palate, Broad nas... OMIM:239800
Kerion Celsi
Lymphadenopathy, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Rec... ORPHA:499
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Recon Progeroid Syndrome
Thin vermilion border, Anemia, Proximal placement of thumb, Recurrent infections, Hyperconvex thu... OMIM:620370
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Advanced eruption of teeth, Solitary median maxillary central incisor, Conical too... ORPHA:952
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Nail dystrophy, Corneal neovascularization, Chronic monilial nail infection, Chro... OMIM:158310
Poikiloderma With Neutropenia
Retrognathia, Nail dystrophy, Skin rash, Recurrent bronchopulmonary infections, Low posterior hai... OMIM:604173
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cataract 9, Multiple Types
Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Tenorio Syndrome
Keratoconjunctivitis sicca, Recurrent aphthous stomatitis, Gastroesophageal reflux, Telecanthus, ... OMIM:616260
Microphthalmia, Syndromic 16
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Flat occiput, Cortical dysplasia, Proptosis, Small cerebral co... OMIM:608716
Rubinstein-Taybi Syndrome 2
Retrognathia, Highly arched eyebrow, Prominent fingertip pads, Broad thumb, Intestinal malrotatio... OMIM:613684
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Behçet Disease
Gastrointestinal hemorrhage, Optic neuritis, Vertigo, Cerebral ischemia, Pericarditis, Ataxia, Sp... ORPHA:117
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... OMIM:615559
Hypotrichosis 7
Brittle hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse scalp hair, Woolly... OMIM:604379
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Dysgyria, Abnormality of the internal capsule, Abnormal thalamus mo... ORPHA:467166
48,Xxyy Syndrome
Chronic otitis media, Ataxia, Taurodontia, Broad jaw, Azoospermia, Depression, Tremor, Carious te... ORPHA:10
Cryoglobulinemic Vasculitis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Purpura, Mediastinal lymphadenopathy, ... ORPHA:91138
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology... OMIM:614931
Cockayne Syndrome
Elevated circulating hepatic transaminase concentration, Hypertension, Action tremor, Ataxia, Spl... ORPHA:191
Familial Adenomatous Polyposis
Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod... ORPHA:733
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Anemia, Skin rash, Thrombocytopenia, S... OMIM:603552
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Cognitive impairment, Abnormal caudate nucleus morphology, Abnormal... ORPHA:397725
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic diarrhea, Chronic neutropenia, Decreased specific antibody response to vaccination, Recur... OMIM:614700
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929
Clouston Syndrome
Nail dysplasia, Abnormality of the hand, Nail dystrophy, Photophobia, Palmoplantar hyperkeratosis... OMIM:129500
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Gray matter hetero... OMIM:604213
Supernumerary Nostril
Tessier cleft, Supernumerary naris, Abnormality of ethmoid sinus, Choanal atresia ORPHA:141096
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Hypohidrotic Ectodermal Dysplasia
Trichorrhexis nodosa, Inflammatory abnormality of the eye, Breast aplasia, Abnormal hair quantity... ORPHA:238468
Hypotrichosis 12
Sparse or absent eyelashes, Abnormal sweat gland morphology, Slow-growing hair, Abnormality of th... OMIM:615885
Microphthalmia, Syndromic 12
Microphthalmia, Neonatal death, Wide nasal bridge, Anophthalmia OMIM:615524
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Sensorineural hearing impairment, Metaphyseal irregularity, Long philtrum, Decreased response to ... OMIM:616007
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Cerebellar calcifications, Thalamic calcification, Basal ganglia calcification, Ment... OMIM:618824
Colorectal Cancer
Neoplasm of the stomach, Renal cell carcinoma, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Hepatoerythropoietic Porphyria
Ectropion, Erythrodontia, Abnormal bleeding, Loss of eyelashes, Scarring alopecia of scalp, Corne... ORPHA:95159
Candidiasis, Familial, 1
Premature loss of teeth, Chronic mucocutaneous candidiasis, Cutaneous anergy, Recurrent viral inf... OMIM:114580
Classical-Like Ehlers-Danlos Syndrome Type 2
Bilateral ptosis, Sandal gap, Arachnodactyly, Equinus calcaneus, Abnormal toe morphology, Disloca... ORPHA:536532
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Steatorrhea, Fat malabsorption, Chronic diarrhea OMIM:613291
Cockayne Syndrome Type 3
Premature graying of hair, Elevated circulating hepatic transaminase concentration, Cardiomyopath... ORPHA:90324
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Micrognathia, Cleft palate, Glossoptosis OMIM:311895
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the nose, Underdeveloped nasal alae, Abnormality of the dentition, ... ORPHA:1794
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Crypt hyperplasia, Villous atrophy OMIM:613217
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Nail dystrophy, Photophobia, Scarring alopecia of scalp, Folliculitis, Cataract, ... OMIM:612843
Dyskeratosis Congenita
Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Anorectal anomaly, Aplastic/... ORPHA:1775
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Abnormal eyelash morphology, Sparse scalp hair, Gingivitis, Abnormality of the den... ORPHA:1008
Holocarboxylase Synthetase Deficiency
Anorexia, Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Ataxia, Thrombocytopenia,... ORPHA:79242
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Photophobia, Increased cir... OMIM:617388
Hypotrichosis 3
Abnormal sweat gland morphology, Abnormality of the nail, Abnormal eyelash morphology, Abnormalit... OMIM:613981
Witkop Syndrome
Microdontia of primary teeth, Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toe... OMIM:189500
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Palpebral edema, Abnormal sweat gland morphology, Abnormality of the nail, Absent eyelashes, Spar... OMIM:607823
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Anemia, Toenail dysplasia, Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morp... ORPHA:2325
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Trichorrhexis nodosa, Nail dystrophy, Short philtrum, Scarring alopecia of scalp, Eczematoid derm... OMIM:617337
Spinocerebellar Ataxia, Autosomal Recessive 20
Dental crowding, Sensorineural hearing impairment, Ataxia, Splenomegaly, Broad philtrum, Long phi... OMIM:616354
Prolonged prothrombin time, Steatorrhea, Color vision defect, Elevated circulating hepatic transa... ORPHA:14
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Abnormality of the nail, Sparse scalp hair, Abnormality of the dentition, Blindness, Reduced term... OMIM:601553
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... ORPHA:166119
Oculodentodigital Dysplasia
Broad alveolar ridges, Abnormal pinna morphology, Tooth agenesis, Ataxia, Sparse hair, Myopia, Ab... ORPHA:2710
Ifap Syndrome 2
Nail dystrophy, Photophobia, Atrichia, Angular cheilitis, Posterior blepharitis, Keratitis, Spars... OMIM:619016
Hypotrichosis 13
Abnormal sweat gland morphology, Woolly hair, Sparse eyelashes, Abnormal dental morphology, Spars... OMIM:615896
Congenital Erythropoietic Porphyria
Ectropion, Increased fecal coproporphyrin 1, Recurrent bacterial skin infections, Reticulocytosis... ORPHA:79277
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Hypoplasia of the corpus callosum, T2 hypointense thalamus, Memory impairment, Cerebral cortical ... OMIM:618193
Lacrimoauriculodentodigital Syndrome
Nail dysplasia, Recurrent corneal erosions, Corneal neovascularization, Mixed hearing impairment,... ORPHA:2363
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Chorea, Biliary cirrho... ORPHA:289390
Frontofacionasal Dysplasia
Hypoplasia of the corpus callosum, Tessier cleft, Short nose, Non-midline cleft of the upper lip,... ORPHA:1791
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Biliary cirrhosis, Leukopenia, Aplasia/Hypoplasia of the spleen, Non-caseating... ORPHA:227982
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Colon cancer, Hematochezia, Intussusception, Duodenal a... OMIM:174900
Gómez-López-Hernández Syndrome
Brachycephaly, Turricephaly, Cerebellar vermis hypoplasia, Impaired pain sensation, Cognitive imp... ORPHA:1532
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Broad eyebrow, Abnormal hair morphology, Sensorineural hearing impairment, Low-set ears, Keratiti... OMIM:122430
Naegeli-Franceschetti-Jadassohn Syndrome
Nail dystrophy, Decreased number of sweat glands, Yellow-brown discoloration of the teeth, Flexio... ORPHA:69087
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent infections, Arthritis, Skin rash, Diarrhea, High palate, ... ORPHA:33110
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Hypermetropia, Recurrent infections, Single transverse palmar crease, Inci... OMIM:615502
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Lymphadenopathy, Conjunctivitis OMIM:617772
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Ectropion, Recurrent otitis media, Oligodontia, Microtia, Corneal opacity, Synophrys, Long palpeb... OMIM:602562
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Parc Syndrome
Absent eyelashes, Absent eyebrow, Cleft palate, Microretrognathia, Alopecia OMIM:600331
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Protracted diarrhea, Villous atrophy OMIM:251850
Cronkhite-Canada Syndrome
Intestinal polyposis, Splenomegaly, Anorexia, Abdominal pain, Dystrophic toenail, Furrowed tongue... ORPHA:2930
Intermittent diarrhea, Visual loss, Chronic diarrhea, Sinusitis, Biliary tract abnormality, Myoca... ORPHA:2552
Filippi Syndrome
Thin vermilion border, Finger clinodactyly, Short philtrum, Single transverse palmar crease, Serr... OMIM:272440
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Ectropion, Lymphangiectasis, Abnormal oral cavity morphology, Abnormality of the upper limb, Eyel... ORPHA:182
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Nail dystrophy, Anemia, Mitten deformity, Narrow mouth, Abnormal esophagus morpho... OMIM:226600
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Male hypogonadism, Hepatomegaly, Photophobia, Limb hypertonia, L... ORPHA:90322
Cerebrooculonasal Syndrome
Tessier cleft, Abnormal nostril morphology, Widely spaced teeth, Solitary median maxillary centra... ORPHA:66625
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma... ORPHA:500166
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Hepatomegaly, Lymphadenopathy, Inflammatory abnormality of the eye, Diar... ORPHA:36412
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic... OMIM:136300
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Hemifacial Atrophy, Progressive
Short mandibular rami, Delayed eruption of teeth, Microtia, Patchy alopecia, Poliosis, Ataxia, De... OMIM:141300
Hereditary Acrokeratotic Poikiloderma
Ectropion, Nail dystrophy, Pustule, Abnormal metacarpal morphology, Dystrophic toenail, Abnormali... ORPHA:2907
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormal palate morphology, Short nose, Abnormality of the dentition, Tooth agenes... ORPHA:1786
Eec Syndrome
Nail dystrophy, Proximal placement of thumb, Corneal erosion, Inflammatory abnormality of the eye... ORPHA:1896
Sandhoff Disease
Congestive heart failure, Hepatomegaly, Hearing impairment, Ataxia, Splenomegaly, Cherry red spot... ORPHA:796
Trichothiodystrophy 9, Nonphotosensitive
Nail dystrophy, High, narrow palate, Tiger tail banding, Sparse eyebrow, Ataxia, Brachydactyly, S... OMIM:619692
Anophthalmia Plus Syndrome
Tessier cleft, Non-midline cleft of the upper lip, Bilateral cleft palate, Choanal atresia, Cleft... ORPHA:1104
Agammaglobulinemia, X-Linked
Decreased circulating IgE, Chronic diarrhea, T lymphocytopenia, Recurrent sinusitis, Lymph node h... OMIM:300755
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, High, narrow palate, Optic nerve hypoplasia, Choanal atresia, Depressed nasal ridg... OMIM:607597
Cranioectodermal Dysplasia 4
Thin vermilion border, Taurodontia, Broad distal phalanx of finger, Protruding ear, Hypermetropia... OMIM:614378
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate OMIM:600251
Biotinidase Deficiency
Decreased circulating biotinidase concentration, Hepatomegaly, Visual loss, Diarrhea, Seborrheic ... OMIM:253260
Renpenning Syndrome
Sensorineural hearing impairment, Round ear, Short philtrum, Cleft palate, Malar flattening, Thin... ORPHA:3242
Cach Syndrome
Limb ataxia, T2 hypointense thalamus, Globus pallidus hypointensity on susceptibility-weighted im... ORPHA:135
Decreased liver function, Increased T cell count, Leukopenia, Erythema nodosum, Abnormal conjunct... ORPHA:797
Blepharophimosis-Impaired Intellectual Development Syndrome
Aplastic/hypoplastic toenail, Highly arched eyebrow, Microdontia, Wide mouth, Short distal phalan... OMIM:619293
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
BCGitis, Sepsis, Alopecia of scalp, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus... OMIM:602450
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of nail color, High anterior hairline, Abnormal hair quantity, Abnormal dental enamel... ORPHA:3220
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Protein-losing enteropathy, Vomiting, Villous atrophy OMIM:615863
Microphthalmia/Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Oculodentodigital Dysplasia
Joint contracture of the 5th finger, Broad alveolar ridges, Abnormal pinna morphology, Microdonti... OMIM:164200
Congenital Short Bowel Syndrome
Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, Congenital shortened sm... OMIM:615237
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Nail dystrophy, Renal tubular epithelial necrosis, Visual loss, Corneal erosion, Elevated circula... ORPHA:95455
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate, Wide nasal bridge, Underdeveloped nasal alae OMIM:613456
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Skin rash, Clubbing, Eczematoid dermatitis, Severe vir... ORPHA:79128
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nail dystrophy, Hyperconvex nail, Pili torti, Ankyloblepharon, Conical tooth, Absent eyelashes, S... OMIM:106260
Foveal Hypoplasia 2
Microphthalmia, Astigmatism, Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea OMIM:609218
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Chronic diarrhea, Skin rash, Abdominal pain,... OMIM:142680
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones ORPHA:564003
Autoimmune Polyendocrine Syndrome, Type Ii
Steatorrhea, Cirrhosis, Iron deficiency anemia, Band keratopathy, Chronic mucocutaneous candidias... OMIM:269200
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Zimmermann-Laband Syndrome
Sensorineural hearing impairment, Generalized hypertrichosis, Bifid uvula, Wide mouth, Splenomega... ORPHA:3473
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Sandal gap, Highly arched eyebrow, Abnormal finger morphology, Ev... ORPHA:3051
Coffin-Siris Syndrome 2
Sandal gap, Small nail, Abnormal pinna morphology, Absent fifth fingernail, Wide mouth, Long phil... OMIM:614607
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level, Chr... ORPHA:103907
Giant Cell Arteritis
Visual loss, Vertigo, Cerebral ischemia, Pericarditis, Hyperhidrosis, Epistaxis, Visual field def... ORPHA:397
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Abdominal pain, Splenomegaly, Malabs... ORPHA:100025
Gombo Syndrome
Microphthalmia OMIM:233270
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel... ORPHA:169154
Otodental Syndrome
Odontoma, Long philtrum, Taurodontia, Agenesis of premolar, Carious teeth, High-frequency sensori... ORPHA:2791
Polydactyly, Postaxial, Type A6
Broad phalanges of the 5th finger, Abnormal sweat gland morphology, Abnormality of the nail, Post... OMIM:615226
Immunodeficiency 104
Pneumonia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to ... OMIM:608971
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, T2 hypointense thalamus, Cerebellar atrophy, Cognitive impairment, Gait ataxia,... ORPHA:1947
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the dentition, Long eyelash... ORPHA:3363
Schimke Immuno-Osseous Dysplasia
Abnormal femoral head morphology, Hypertension, Abnormal intestine morphology, Cerebral ischemia,... ORPHA:1830
Muckle-Wells Syndrome
Abnormal palate morphology, Hepatomegaly, Anemia, Recurrent aphthous stomatitis, Arthritis, Skin ... ORPHA:575
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Retrognathia, Abnormal palate morphology, Hypertonia, Clinodactyly of the 5th finger, Low-set, po... ORPHA:1390
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Diarrhea, Recurrent bronchitis, B lymphocytop... OMIM:612692
Marfanoid-Progeroid-Lipodystrophy Syndrome
Retrognathia, High, narrow palate, High myopia, Hyperextensibility of the finger joints, Hyperten... OMIM:616914
Smith-Magenis Syndrome
Chronic otitis media, Myopia, Delayed eruption of primary teeth, Taurodontia, Short philtrum, Cle... ORPHA:819
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Abnormality of the nail, Skin rash, Abnormal eyelid morphology, Ab... ORPHA:2584
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Megalocornea, Synophrys, Downturned corners of ... OMIM:618729
Gm1 Gangliosidosis
Decerebrate rigidity, Cardiomyopathy, Corneal opacity, Ataxia, Splenomegaly, Dysphagia, Long phil... ORPHA:354
Cockayne Syndrome Type 1
Hypoplasia of the primary teeth, Elevated circulating hepatic transaminase concentration, Hyperte... ORPHA:90321
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
49,Xxxxy Syndrome
Chronic otitis media, Hypogonadism, Myopia, Coxa valga, Taurodontia, Azoospermia, Tremor, Carious... ORPHA:96264
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Slow-growing scalp hair, Abnormality of the nail, Oligodontia, Sparse scalp hair, Sparse eyelashe... OMIM:601345
Alopecia Universalis Congenita
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis OMIM:203655
Mueller-Weiss Syndrome
Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f... ORPHA:566943
Muenke Syndrome
Capitate-hamate fusion, Radial deviation of finger, Recurrent otitis media, Cone-shaped epiphyses... OMIM:602849
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Spontaneous hematomas, Chronic diarrhea, Abnormal platelet fun... ORPHA:906
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth, Hirsutism, Abnormality of ... ORPHA:2026
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:3152
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Polymicrogyria, Cortical dysplasia, A... ORPHA:300573
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Clinodactyly of the 5th finger, Astigmatism, Neutropenia, Hypermetropia, Ane... OMIM:618067
Treacher-Collins Syndrome
Retrognathia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Multiple encho... ORPHA:861
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Dental crowding, Persistent pupill... OMIM:257850
48,Xxxy Syndrome
Chronic otitis media, Hypogonadism, Coxa valga, Taurodontia, Azoospermia, Tremor, Carious teeth, ... ORPHA:96263
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Everted lower lip vermilion, Microdontia, Aplasia/Hypoplastia of the... OMIM:305100
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Nail dystrophy, Chronic diarrhea, Increased T cell count, Recurrent sinusitis, Sparse hair, Conic... ORPHA:98813
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Cleft upper lip, Bilateral cleft lip, Absent septum pelluc... OMIM:601357
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Burkitt Lymphoma
Neoplasm of the oral cavity, Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph ... ORPHA:543
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the corpus callosum, Plagiocephaly, Lissencephaly, Cerebellar vermis hypoplasia, Pr... ORPHA:300570
Cohen Syndrome
Short metacarpal, Leukopenia, Reduced visual acuity, Myopia, Neutropenia, Decreased response to g... OMIM:216550
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Infant Botulism
Chronic otitis media, Anorexia, Mydriasis, Abdominal pain, Xerostomia, Hypertension, Cardiac arre... ORPHA:178478
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Tented philtrum, Broad eyebrow, Gastroesophageal reflux, Corneal dystrophy, Hirsutism, Low-set ea... ORPHA:495875
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Premature graying of hair, Gastrointestinal hemorrhage, Retinal telangiectasia, Pancytopenia, Spa... OMIM:617341
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Telecanthus, Short middle phalanx of the 5th finger, Cutaneous finger syndactyly, Carious teeth, ... OMIM:203550
Trichodentoosseous Syndrome
Widely spaced teeth, Abnormal hair morphology, Microdontia, Fragile nails, Taurodontia OMIM:190320
Gastrointestinal hemorrhage, Seborrheic dermatitis, Cerebral palsy, Hyperhidrosis, Splenomegaly, ... ORPHA:2796
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Panniculitis, Lymphadenopathy, Increased circulating antibody level, Elevated circu... OMIM:617591
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Fasciculations, Vertigo, Hypertension, Increased... ORPHA:99827
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Leukopenia, Deep palmar crease, Pulmonary arterial hypertension, Hep... ORPHA:505248
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Auriculocondylar Syndrome 2A
Short mandibular rami, Macrocephaly, Mandibular condyle hypoplasia, Dental crowding, Temporomandi... OMIM:614669
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Flexion contracture of toe, Increased circulating antibody level, Elev... OMIM:256040
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly, Hypertelorism, Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Yao Syndrome
Diarrhea, Arthritis, Skin rash, Oral ulcer, Abdominal pain, Xerostomia, Pericarditis, Inflammator... OMIM:617321
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft palate, Bilateral cleft lip OMIM:600776
Acrodermatitis Enteropathica
Anorexia, Cheilitis, Corneal erosion, Ridged nail, Photophobia, Abnormality of the nail, Glossiti... ORPHA:37
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Palpebral edema, Abnormal salivary gland morphology, Keratoconjunctivit... ORPHA:79078
Lowry-Maclean Syndrome
Retrognathia, High, narrow palate, Developmental glaucoma, Visual loss, Single transverse palmar ... ORPHA:2409
Chronic otitis media, Narrow palate, Widely spaced teeth, Hepatomegaly, Craniofacial hyperostosis... ORPHA:61
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Gastrointestinal hemorrhage, Hepatomegaly, Hypertonia, Diarrhea, Abdominal pain, Skin rash, Tremo... ORPHA:99745
Increased bone mineral density, Arthritis, Hyperostosis, Joint stiffness, Ectopic ossification in... ORPHA:2485
Camptodactyly Syndrome, Guadalajara Type 1
Highly arched eyebrow, Microtia, Short distal phalanx of finger, Low-set, posteriorly rotated ear... ORPHA:1327
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Depression, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, I... ORPHA:216873
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Thick lower lip vermilion, Widely spaced teeth, Astigmatism, Delayed eruption of teeth, Hyperexte... OMIM:619797
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Microphthalmia, Iris coloboma OMIM:120433
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Decreased thalamic volume, Microcephaly, Cerebral cortical atr... OMIM:619072
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition, Hearing impairment,... ORPHA:2222
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Aggressive Systemic Mastocytosis
Decreased liver function, Gastrointestinal hemorrhage, Abnormal mast cell morphology, Neutropenia... ORPHA:98850
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Tented philtrum, Protruding ear, Hirsutism, Laterally extended eyebrow, Low-set ears, Synophrys, ... OMIM:618479
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Anemia, Chronic diarrhea, Decreased circulating antibody level,... OMIM:616740
Intellectual Disability, Birk-Barel Type
High, narrow palate, Limited elbow flexion/extension, Protruding ear, Short philtrum, Nasogastric... ORPHA:166108
Hematemesis, Gastrointestinal hemorrhage, Visual loss, Acute infectious pneumonia, Retinal arteri... ORPHA:73263
Congenital Syphilis
Tibial bowing, Prolonged neonatal jaundice, Myocarditis, Maculopapular exanthema, Petechiae, Notc... ORPHA:499009
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Lymph node hypoplasia, Splenomegaly, Ataxia, Lymphopenia, Abnormality of B cell physio... OMIM:613179
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Ectropion, Hypertonia, Brittle hair, Recurrent infections, Meckel diverticu... OMIM:616395
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Splenomegaly, Petechiae, Vasculitis, Increased circulating IgG level... OMIM:603909
Roifman Syndrome
Bilateral single transverse palmar creases, Hyperconvex nail, Long philtrum, Decreased circulatin... ORPHA:353298
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Diarrhe... OMIM:601457
Classic Galactosemia
Elevated circulating hepatic transaminase concentration, Incoordination, Abnormal erythrocyte enz... ORPHA:79239
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses OMIM:166740
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Bilateral single transverse palmar creases, Retrognathia, Sensorineural hearing impairment, Narro... OMIM:235510
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Short thumb, Alopecia OMIM:188150
Sulfite Oxidase Deficiency, Isolated
Hypertonia, Episodic vomiting, Delayed eruption of teeth, Cerebral visual impairment, Eczematoid ... OMIM:272300
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Photophobia, Conical primary incisor, Cor... OMIM:602400
Generalized Eruptive Keratoacanthoma
Ectropion, Dysphagia, Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Squamous Cell Carcinoma Of The Esophagus
Clinodactyly of the 5th toe, Lymphadenopathy, Esophageal carcinoma, Nausea and vomiting, Feeding ... ORPHA:99977
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... OMIM:607634
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Dyskeratosis Congenita, X-Linked
Premature graying of hair, Nail dystrophy, Ridged nail, Bone marrow hypocellularity, Hyperhidrosi... OMIM:305000
Reynolds Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Arthritis, Skin rash, Xerostomia, Abn... ORPHA:779
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Ectropion, Dystrophic fingernails, Nail dystrophy, Photophobia, Scarring alopecia of scalp, Corne... OMIM:308800
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Iris coloboma, Hypertonia, Short philtrum, Delayed eruption of teeth, Hypopi... ORPHA:3214
Arboleda-Tham Syndrome
Chronic otitis media, Sandal gap, Highly arched eyebrow, Small earlobe, Underdeveloped tragus, Ce... OMIM:616268
Gastrointestinal Stromal Tumor
Neurofibroma, Intestinal obstruction, Dysphagia, Gastrointestinal stroma tumor OMIM:606764
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Gastrointestinal hemorrhage, Cirrhosis, Jaundice, Hepatomegaly, Elevated circu... ORPHA:79301
Rhizomelic Chondrodysplasia Punctata, Type 1
Rhizomelia, Flared metaphysis, Sensorineural hearing impairment, Spasticity, Micrognathia, Cleft ... OMIM:215100
Crouzon Syndrome
Narrow palate, Iris coloboma, Hypoplasia of the maxilla, Hearing impairment, Ptosis, Conductive h... ORPHA:207
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Cerebellar at... ORPHA:363717
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade... OMIM:606719
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Elevated circulating hepatic transaminase concentration, Photophobia, Sensorineural he... OMIM:242150
Coffin-Siris Syndrome 3
Recurrent infections, Hirsutism, High palate, Sparse scalp hair, Poor suck, Long eyelashes, Heari... OMIM:614608
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Generalized dystonia, Oculogyric crisis, Abnormality of extrapyramid... ORPHA:101150
Sézary Syndrome
Ectropion, Nail dystrophy, Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Tremor, ... ORPHA:3162
Vici Syndrome
Everted upper lip vermilion, Sensorineural hearing impairment, Cardiomyopathy, T lymphocytopenia,... OMIM:242840
Atopic Keratoconjunctivitis
Corneal neovascularization, Loss of eyelashes, Photophobia, Abnormal eyelid morphology, Corneal o... ORPHA:163934
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Sensorineural hearing impairment, Everted lower lip vermilion, Long philtrum, Short distal phalan... OMIM:220500
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion, Cerebral infarct, Progressive cerebellar ataxia, Dysdiadoc... ORPHA:254881
Cardiofaciocutaneous Syndrome 1
Oculomotor apraxia, Cerebral visual impairment, Low posterior hairline, Pulmonic stenosis, Hyperh... OMIM:115150
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Intest... ORPHA:85446
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Cerebellar atrophy, Hypoplasia of the pons, Microcephaly, Ataxia OMIM:618276
Vernal Keratoconjunctivitis
Corneal neovascularization, Photophobia, Corneal ulceration, Keratoconus, Keratoconjunctivitis, R... ORPHA:70476
Peroxisome Biogenesis Disorder 5A (Zellweger)
Palpebral edema, Small nail, Sensorineural hearing impairment, Cholestasis, Increased circulating... OMIM:614866
Cholestasis, Paralytic ileus, Myocarditis, Anorexia, Abdominal pain, Splenic abscess, Nausea, Abd... ORPHA:810
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Bilateral single transverse palmar creases, Nail dystrophy, Highly arched eyebrow, Bilateral clef... ORPHA:3253
Kury-Isidor Syndrome
Rocker bottom foot, Recurrent otitis media, Widely spaced teeth, Proximal placement of thumb, Tri... OMIM:619762
Muckle-Wells Syndrome
Recurrent aphthous stomatitis, Clubbing of fingers, Progressive sensorineural hearing impairment,... OMIM:191900
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Highly arched eyebrow, Sensorineural hearing impairmen... ORPHA:2712
Xeroderma Pigmentosum, Complementation Group D
Ectropion, Corneal neovascularization, Entropion, Photophobia, Sensorineural hearing impairment, ... OMIM:278730
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Kawasaki Disease
Cheilitis, Skin rash, Palmar edema, Pericarditis, Nausea and vomiting, Cholecystitis, Myocarditis... ORPHA:2331
Short Stature-Wormian Bones-Dextrocardia Syndrome
Anterior hypopituitarism, Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the ph... ORPHA:2863
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Astigmatism, Hypermetropia, High palate, Low-set ears, Cerebral visual impai... OMIM:618205
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Long eyebrows, Long eyelashes, Sparse hair... OMIM:275400
Visual loss, Pericarditis, Pustule, Ataxia, Unusual CNS infection, Myoclonus, Cholecystitis, Gran... ORPHA:533
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Erythrodontia, Jaundice, Loss of eyelashes, Hepatomegaly, Cholelit... OMIM:263700
Zika Virus Disease
Wrist swelling, Myelitis, Arthritis, Skin rash, Vomiting, Increased circulating IgM level, Transi... ORPHA:448237
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Lower eyelid edema, Long philtrum, Sacral hyp... ORPHA:363705
Erythermalgia, Primary
Keratoconjunctivitis sicca, Diarrhea, Constipation, Hyperhidrosis, Palpitations, Xerostomia, Blur... OMIM:133020
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Pulmonic stenosis, Recurrent sinusitis, Chronic oral candidiasis, Abnormality of the dentition, A... OMIM:618282
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Bicoronal synostosis, Dandy-Walker malformation, Pari... OMIM:616602
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Prolonged QT interval, Abdominal symptom, ... ORPHA:94089
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Iris coloboma, Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the u... ORPHA:88630
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse axillary hair, Sparse hair, Fine ha... ORPHA:189
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Nail dysplasia, Nail dystrophy, Gastrointestinal hemorrhage, Aplastic ... OMIM:613990
Systemic Lupus Erythematosus 17
Myelitis, Malar rash, Optic neuritis, Oral ulcer, Chorea, Hypertensive crisis, Leukopenia, Raynau... OMIM:301080
Mcdonough Syndrome
Bilateral single transverse palmar creases, Abnormal palate morphology, Short palpebral fissure, ... ORPHA:2471
Frontonasal Dysplasia 2
Hypoplasia of the corpus callosum, Widely spaced teeth, Cleft ala nasi, Conical tooth, Cerebellar... OMIM:613451
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentration, Low posterior ... ORPHA:2959
Omenn Syndrome
Abnormal metaphysis morphology, Sepsis, Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Chron... ORPHA:39041
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Gastrointestinal hemorrhage, Purpura, Hepatomegaly, Recurrent aphthous st... ORPHA:343
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Vertigo, Skin rash, Pericarditis, Splenomegaly, Abdominal pain, Vasculiti... ORPHA:32960
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Vertigo, Epistaxis, Splenomegaly, Ataxia, Anorexia, Normocytic anemi... ORPHA:33226
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Temporomandibular joint ankylosis, Cleft palate, Microglossia ORPHA:141152
Abnormal thalamic MRI signal intensity, T2 hypointense thalamus, Abnormal putamen morphology, Eye... ORPHA:157846
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Trichodysplasia, Brittle hair, Absent eyelashes, Abnormal pinna morphology, Eczem... ORPHA:2890
Roifman Syndrome
Short metacarpal, Irregular femoral epiphysis, Splenomegaly, Long philtrum, Downslanted palpebral... OMIM:616651
Hypomelanosis Of Ito
Radial deviation of finger, Thick lower lip vermilion, Iris coloboma, Hand polydactyly, Irregular... OMIM:300337
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal hemorrhage... ORPHA:44890
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Trichorhinophalangeal Syndrome, Type I
Short metacarpal, Microdontia, Cone-shaped epiphyses of the proximal phalanges of the hand, Conca... OMIM:190350
Mucopolysaccharidosis Type 3
Chronic otitis media, Intermittent diarrhea, Mixed hearing impairment, Sensorineural hearing impa... ORPHA:581
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Protruding ear, Triphalangeal thumb, Finger syndactyly, Everted lower lip vermilion, Onychogrypos... ORPHA:2251
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Photophobia, Corneal dystrophy, Subepithelial corneal opacities, Corn... ORPHA:293381
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Cleft palate, Glossoptosis, Abnormality of the dentition ORPHA:3104
H Syndrome
Corneal arcus, Abnormal eyebrow morphology, Hypogonadism, Psoriasiform dermatitis, Histiocytosis,... ORPHA:168569
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Microcornea, Sclerocornea, Cataract, Iris coloboma ORPHA:139471
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Antisynthetase Syndrome
Myocarditis, Aortic regurgitation, Myositis, Arthritis, Skin rash, Xerostomia, Pulmonary arterial... ORPHA:81
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Neutropenia, Lymphadenopathy, Ileus, Anemia, Arthritis, Alopecia, Chronic diarrh... OMIM:304790
22Q11.2 Deletion Syndrome
Chronic otitis media, Gastrointestinal hemorrhage, Corneal neovascularization, Anorectal anomaly,... ORPHA:567
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Aarskog-Scott Syndrome
Abnormal pinna morphology, Everted lower lip vermilion, Long philtrum, Low-set, posteriorly rotat... ORPHA:915
Biotinidase Deficiency
Recurrent candida infections, Decreased circulating biotinidase concentration, Scotoma, Sensorine... ORPHA:79241
Adult Syndrome
Breast hypoplasia, Alopecia of scalp, Orofacial cleft, Oligodontia, Hypoplastic nipples, Split ha... OMIM:103285
Cri-Du-Chat Syndrome
Premature graying of hair, Abnormal pinna morphology, Short metacarpal, Bifid uvula, Syndactyly, ... OMIM:123450
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Corneal erosion, Hyperconvex fingernails, Oligodactyly, Corneal opacity, Sparse hair, ... ORPHA:2273
Acute Generalized Exanthematous Pustulosis
Cheilitis, Purpura, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cho... ORPHA:293173
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Cubitus valgus, Lymphadenopathy, Mandibular prognathia, Decreased circulating antibody level, Hig... OMIM:619750
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... OMIM:300853
Fanconi Anemia, Complementation Group S
Narrow palate, Ovarian neoplasm, Proximal placement of thumb, Dental malocclusion, Anemia, Blepha... OMIM:617883
Cataract 42
Cataract, Developmental cataract OMIM:115900
Whipple Disease
Gastrointestinal hemorrhage, Erectile dysfunction, Pericarditis, Ataxia, Splenomegaly, Myoclonus,... ORPHA:3452
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Colon cancer, Endometrial carcinoma, Adenomatous co... OMIM:613244
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Dysplastic corpus callosum, Secondary microcephaly, Reduced cerebral white matter volume, Ataxia,... OMIM:620317
Immunodeficiency 38 With Basal Ganglia Calcification
BCGitis, Lymphadenopathy, Severe viral infection, Recurrent viral infections, Recurrent mycobacte... OMIM:616126
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Highly arched eyebrow, Dental crowding, Sensorineural hearing impairment, Everted l... OMIM:618342
Pili Torti
Brittle hair, Abnormality of the nail, Abnormal dental enamel morphology, Abnormality of hair tex... ORPHA:2889
Chronic Graft Versus Host Disease
Recurrent corneal erosions, Nail dystrophy, Elevated circulating hepatic transaminase concentrati... ORPHA:99921
Intermediate Osteopetrosis
Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Generalized osteosc... ORPHA:210110
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, 2-3 toe cutaneous syndactyly, Widely spaced teeth, Small nail, Conical tooth, Sparse... OMIM:613573
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, Microvillus inclusions... OMIM:619445
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Choreoathetosis, Hemiparesis, Dystonia, Ataxia, Extrapyr... ORPHA:71277
Lymphedema-Distichiasis Syndrome
Ectropion, Patent ductus arteriosus, Photophobia, Corneal erosion, Recurrent urinary tract infect... ORPHA:33001
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp, Perifolliculitis OMIM:260910
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Aplastic/hypoplastic toenail, Absent toe, Abnormality of the upper l... ORPHA:974
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Inhalational Anthrax
Sepsis, Abnormal sweat gland morphology, Hypotension, Internal hemorrhage, Vomiting ORPHA:247257
Incontinentia Pigmenti
Skin rash, Corneal opacity, Broad nail, Cerebral ischemia, Hyperhidrosis, Hearing abnormality, Ab... ORPHA:464
Erythrokeratodermia Variabilis
Abnormal hair morphology, Abnormality of the nail, Skin rash, Corneal opacity, Abnormal testis mo... ORPHA:317
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Meckel Syndrome, Type 8
Short nose, Microphthalmia, Anophthalmia OMIM:613885
Auriculocondylar Syndrome 4
Narrow mouth, Micrognathia, Cleft palate, Glossoptosis OMIM:620457
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis, Myopia, Neutropenia, Anorexia, Abnormal b... ORPHA:79430
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Iris coloboma OMIM:610023
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Skin rash, Leukocytosis, Hearing impairment, Aphthous ulcer, Conjunctivitis, Uveitis OMIM:120100
Autosomal Dominant Keratitis
Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... OMIM:166600
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Chronic diarrhea, Recurrent vulvov... ORPHA:331235
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Nail dystrophy, Yellow nails, Ridged nail, Conical incisor, Onychomycosis, Sparse lateral eyebrow... OMIM:614564
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic diarrhea, Severe varicella zoster infection, T lymphocytopenia, Enlarged tonsils, Psorias... OMIM:606367
Dermatitis, Atopic
Keratoconus, Atopic dermatitis, Eczematoid dermatitis, Conjunctivitis, Cataract, Recurrent skin i... OMIM:603165
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
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
Aredyld Syndrome
Advanced eruption of teeth, Hepatomegaly, Low-set, posteriorly rotated ears, Craniofacial hyperos... ORPHA:1133
Cinca Syndrome
Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Inflammatory abnormality of the eye, Nausea and v... ORPHA:1451
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Conical tooth, Chronic diarrhea, Sparse scalp hair, Hypohidrosis, Anhidrosis, Recur... OMIM:612132
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Hamamy Syndrome
Sensorineural hearing impairment, Everted lower lip vermilion, Low posterior hairline, Wide mouth... OMIM:611174
Tumoral Calcinosis, Normophosphatemic, Familial
Gingivitis, Conjunctivitis OMIM:610455
Griscelli Syndrome
Premature graying of hair, Jaundice, Hepatomegaly, Lymphadenopathy, Silver-gray hair, Abnormal ey... ORPHA:381
African Trypanosomiasis
Fasciculations, Optic neuritis, Impotence, Pericarditis, Splenomegaly, Second degree atrioventric... ORPHA:3385
Hypermobile Ehlers-Danlos Syndrome
Anorectal anomaly, Dental crowding, Vertigo, Microdontia, Arachnodactyly, Epistaxis, Nausea and v... ORPHA:285
Scrub Typhus
Myocarditis, Abnormal bleeding, Lymphadenopathy, Photophobia, Abdominal pain, Skin rash, Tremor, ... ORPHA:83317
Craniosynostosis 3
Dental malocclusion, Single transverse palmar crease, Ptosis, Low anterior hairline, Brachydactyl... OMIM:615314
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Sinusitis, Decreased response to growth hormone stimulation test, Pyode... OMIM:307200
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Mandibular prognathia, Open bite, Microdontia, Tooth age... ORPHA:1248
Babinski sign, Trismus, Vertigo, Skin rash, Increased circulating IgE level, Meningitis, Retinal ... ORPHA:863
Bullous Dystrophy, Hereditary Macular Type
Short finger, Abnormality of the nail, Acrocyanosis, Alopecia totalis, Tapered finger OMIM:302000
Temple-Baraitser Syndrome
Bilateral ptosis, Everted upper lip vermilion, Aplastic/hypoplastic toenail, Everted lower lip ve... ORPHA:420561
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Focal T2 hyperintense basal ganglia lesi... ORPHA:79264
Usher Syndrome Type 1
Vestibular hypofunction, Visual loss, Scotoma, Depression, Abnormal dental enamel morphology, Sen... ORPHA:231169
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Downslanted palpebral fissures... OMIM:157980
Activated Pi3K-Delta Syndrome
Severe cytomegalovirus infection, Recurrent otitis media, Severe Epstein Barr virus infection, Ly... ORPHA:397596
Microphthalmia ORPHA:35612
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Recurrent otitis media, Mediastinal lymphadenopathy, Recurrent lower respir... OMIM:620233
Leukocyte Adhesion Deficiency
Perianal abscess, Nail dystrophy, Severe periodontitis, Impaired platelet aggregation, Sinusitis,... ORPHA:2968
Hemochromatosis, Type 2A
Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Arthritis, Infertility, Cardiomyo... OMIM:602390
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Retrognathia, Darwin tubercle of helix, Slow-growing hair, Spasticity, Prominent fingertip pads, ... OMIM:615722
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, High palate, Gait ataxia, Long fingers, Downslanted palpebral fissures, Ep... OMIM:618292
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Attached earlobe, Attenuation of retinal blood vessels, Malar flattening, Ca... OMIM:616108
Monosomy 18P
Protruding ear, Generalized dystonia, Short philtrum, Tooth malposition, Abnormal antihelix morph... ORPHA:1598
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Juvenile cataract, Attached earlobe, Progressive night b... ORPHA:436245
Gaba-Transaminase Deficiency
Retrognathia, Downslanted palpebral fissures, Lethargy, Feeding difficulties OMIM:613163
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Intestinal obstruction, Gastrointestinal hemorrhage, Hypertension, Hypo... ORPHA:85450
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia OMIM:610753
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Elevated circulating hepatic transaminase concentration, Abnormal intestine morph... ORPHA:37042
Ogden Syndrome
Everted upper lip vermilion, High, narrow palate, Hypertonia, Torticollis, Low-set ears, Macrotia... ORPHA:276432
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormal basal ganglia morphology, Decreased thalamic volume OMIM:618646
Severe Canavan Disease
Babinski sign, Oral-pharyngeal dysphagia, Gastroesophageal reflux, Decerebrate rigidity, Spastici... ORPHA:314911
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Thin vermilion border, Abnormality of the ear, Second metatarsal posteriorly ... OMIM:214150
Alopecia-Intellectual Disability Syndrome
Photophobia, Split hand, Sparse scalp hair, Hypergonadotropic hypogonadism, Hearing impairment, M... ORPHA:2850
Usmani-Riazuddin Syndrome, Autosomal Recessive
Spasticity, Low-set ears, High palate, Conjunctival hyperemia, Posteriorly rotated ears, Epicanthus OMIM:619548
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Highly arched eyebrow, Bilateral sensorine... OMIM:605282
Catifa Syndrome
Tooth malposition, Delayed eruption of teeth, Increased overbite, Microtia, Camptodactyly, Cleft ... OMIM:618761
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Hyperhidrosis, Recurrent aspiration pneumonia, Dyspha... ORPHA:642
Short Syndrome
Abnormal anterior chamber morphology, Abnormal zygomatic bone morphology, Telecanthus, Abnormal d... ORPHA:3163
Rubinstein-Taybi Syndrome 1
Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Highly arched eyebrow, Dent... OMIM:180849
Oculocerebrocutaneous Syndrome
Tessier cleft, Orofacial cleft, Dandy-Walker malformation, Polymicrogyria, Wide mouth, Cerebellar... ORPHA:1647
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic fingernail, Delayed eruption of teeth, Abnormality of the nail, Conical tooth, Abnorm... ORPHA:2228
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis ORPHA:26137
Gomez-Lopez-Hernandez Syndrome
Thin vermilion border, Decreased response to growth hormone stimulation test, Hypertonia, Depress... OMIM:601853
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Pediatric Systemic Lupus Erythematosus
Skin rash, Discoid lupus rash, Increased circulating lactate dehydrogenase concentration, Leukope... ORPHA:93552
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Short palpebral fissure, Broad distal phalanx of finger, High myopia, Corneal dystrophy, Hyperten... OMIM:617763
Otodental Dysplasia