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 bone mineralization Ctnnb1Bfc HET Early adult 1.90×10-08
increased startle reflex Ctnnb1Bfc HET Early adult 2.51×10-08
abnormal cranium morphology Ctnnb1Bfc HET   Early adult 7.65×10-06
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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 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
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
Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea... OMIM:158320
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... ORPHA:247798
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... ORPHA:454840
Polymerase Proofreading-Related Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... ORPHA:447877
Lactose Intolerance, Adult Type
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223100
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia OMIM:616428
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Intussusception, Prosta... ORPHA:157794
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma OMIM:135290
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Iridocyclitis, Chronic active hepatitis, Alopecia, Constriction of peripheral vis... OMIM:240300
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
Eczema, Microcornea, Carious teeth, Panhypogammaglobulinemia, Clubbing, Hypoplasia of mandible re... ORPHA:33364
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Microphthalmia, Isolated, With Coloboma 5
Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Increased bone mineral density OMIM:166450
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Increased bone mineral density OMIM:265880
Trichothiodystrophy 1, Photosensitive
Sparse hair, Triangular mouth, Microcornea, Cataract, Hypogonadism, Erythroderma, Malabsorption, ... OMIM:601675
Mixed Connective Tissue Disease
Gastritis, Hepatomegaly, Alopecia, Myocarditis, Gastrointestinal hemorrhage, Pericarditis, Prolon... ORPHA:809
Rapp-Hodgkin Syndrome
Sparse hair, Cleft palate, Absent lacrimal punctum, Microdontia, Hypoplasia of the maxilla, Conic... OMIM:129400
Agel Amyloidosis
Corneal ulceration, Ataxia, Sparse hair, Bruising susceptibility, Orthostatic hypotension due to ... ORPHA:85448
Otitis media, Cervical lymphadenopathy, Pneumonia, Inflammatory abnormality of the eye, Lymphaden... ORPHA:3392
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Kid Syndrome
Keratitis, Sparse hair, Sparse eyebrow, Abnormality of the dentition, Acne inversa, Sepsis, Punct... ORPHA:477
Gist-Plus Syndrome
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor OMIM:175510
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Abnormality of hair texture, Woolly hair, Sparse hair, Brittle hair, Sparse eyela... OMIM:234050
X-Linked Agammaglobulinemia
Alopecia, Sepsis, Abnormality of the tonsils, Malabsorption, Osteomyelitis, Arthritis, Hepatitis,... ORPHA:47
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Pancolitis, Vomiting, Protein-losing enteropathy, Chronic di... OMIM:619079
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Rec... OMIM:240500
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Jejunal Atresia
Jejunal atresia OMIM:243600
Ectodermal Dysplasia-Blindness Syndrome
Protruding ear, Blindness, Sparse hair, Abnormality of the dentition, Abnormality of vision, Micr... ORPHA:1806
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Keratitis, Corneal ulceration, Sparse eyebrow, Microdontia, Furrowed tongue, Absent pubic hair, E... OMIM:148210
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... ORPHA:79501
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Tooth agenesis, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, To... ORPHA:2722
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Behçet Disease
Ataxia, Pancreatitis, Myocardial infarction, Increased inflammatory response, Cataract, Acne, Gas... ORPHA:117
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract, Microphthalmia OMIM:610092
Acrofacial Dysostosis, Weyers Type
Hypodontia, Abnormality of the dentition, Advanced eruption of teeth, Conical tooth, Solitary med... ORPHA:952
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Alopecia, Lymphadenopathy, Recur... ORPHA:499
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Narrow mouth, Cleft palate, Broad nasal tip, Micrognathia, Microcephaly, Bifid n... OMIM:239800
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, Chronic diarrhea, Steatorrhea OMIM:613291
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Poikiloderma With Neutropenia
Sparse eyebrow, Carious teeth, Sparse lateral eyebrow, Blepharitis, Splenomegaly, Retrognathia, M... OMIM:604173
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia OMIM:604219
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Microphthalmia, Isolated 3
Anophthalmia, Sclerocornea, Microphthalmia OMIM:611038
Coasy Protein-Associated Neurodegeneration
Cognitive impairment, Abnormal corpus striatum morphology, Abnormal caudate nucleus morphology, A... ORPHA:397725
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Absent isohemagglutinin level, Alopecia, Increased proportion autoreactive unrespon... OMIM:615559
Hypotrichosis 7
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... OMIM:604379
Cryoglobulinemic Vasculitis
Petechiae, Viral hepatitis, Hepatomegaly, Abdominal pain, Splenomegaly, Mediastinal lymphadenopat... ORPHA:91138
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Skin rash, Splenomegaly, Thrombocytopenia, Neutropenia,... OMIM:603552
Supernumerary Nostril
Abnormality of ethmoid sinus, Choanal atresia, Facial cleft, Supernumerary naris ORPHA:141096
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Hypop... OMIM:604213
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
48,Xxyy Syndrome
Ataxia, Constipation, Cleft palate, Hypergonadotropic hypogonadism, Delayed eruption of teeth, Ra... ORPHA:10
Cockayne Syndrome
Corneal ulceration, Ataxia, Hypermetropia, Band keratopathy, Hepatomegaly, Limb hypertonia, Dry h... ORPHA:191
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormality of the d... OMIM:614929
Clouston Syndrome
Nail dysplasia, Blepharitis, Photophobia, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashe... OMIM:129500
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, B lymphocytopenia, Thrombocytopenia, Decreased specific antibody response to vaccination,... OMIM:614700
Familial Adenomatous Polyposis
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... ORPHA:733
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Limb ataxia, Mental deterioration, Thalamic calcification, Cerebella... OMIM:618824
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Vomiting, Nausea, Abnormal small intestinal mucosa morphology, Chronic diarrhea, D... ORPHA:103907
Tenorio Syndrome
Hypertrichosis, Clumsiness, Thick eyebrow, Gastroesophageal reflux, Macroglossia, Raynaud phenome... OMIM:616260
Hepatoerythropoietic Porphyria
Corneal ulceration, Recurrent bacterial skin infections, Ectropion, Erythrodontia, Erythroid hype... ORPHA:95159
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Cranioectodermal Dysplasia
Short distal phalanx of finger, Abnormal dental enamel morphology, Clinodactyly of the 5th finger... ORPHA:1515
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Telangiectasia of the skin, Hypermetropia, Tapered finger, Genu valgum, Cataract, Mandibular prog... OMIM:616007
Holocarboxylase Synthetase Deficiency
Ataxia, Coma, Alopecia, Anorexia, Eczema, Keratoconjunctivitis, Perioral eczema, Nausea and vomit... ORPHA:79242
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Protracted diarrhea, Abnormal intestine morphology OMIM:251850
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Candidiasis, Familial, 1
Premature loss of teeth, Alopecia, Chronic mucocutaneous candidiasis, Recurrent viral infections,... OMIM:114580
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Tooth agenesis, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Abnormality... ORPHA:238468
Classical-Like Ehlers-Danlos Syndrome Type 2
High palate, Alopecia, Hammertoe, Phalangeal dislocation, Sandal gap, Elbow dislocation, Tooth ma... ORPHA:536532
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ankyloblepharon, Cleft palate, Hyperconvex nail, Hypoplasia of the maxilla, Conical tooth, Select... OMIM:106260
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Cockayne Syndrome Type 3
Corneal ulceration, Hypermetropia, Hepatomegaly, Subdural hemorrhage, Dry hair, Microcornea, Cari... ORPHA:90324
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Blepharitis, Nail dysplasia, Photophobia, Folliculitis, Sparse eyebrow, Sparse eyelash... OMIM:612843
Oculomaxillofacial Dysostosis
Cleft palate, Abnormality of the dentition, Micrognathia, Abnormality of the nose, Facial cleft, ... ORPHA:1794
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Melena, Blindness, Photophobia, Alopecia, Corneal neovascularization, Coarse hair... OMIM:158310
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:261800
Rubinstein-Taybi Syndrome 2
High palate, Posterior helix pit, Hirsutism, Narrow palate, Dental malocclusion, Intestinal malro... OMIM:613684
Autoinflammation With Arthritis And Dyskeratosis
Photophobia, Hepatomegaly, Increased circulating IgA level, Splenomegaly, Corneal neovascularizat... OMIM:617388
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Dyskeratosis Congenita
Telangiectasia of the skin, Hepatomegaly, Sparse hair, Alopecia, Hepatic failure, Tracheoesophage... ORPHA:1775
Microphthalmia, Syndromic 12
Anophthalmia, Wide nasal bridge, Microphthalmia OMIM:615524
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Hypotrichosis 3
Sparse scalp hair, Abnormality of the dentition, Abnormal sweat gland morphology, Abnormal eyelas... OMIM:613981
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Periodontitis, Sparse body hair, Abnormality of the dent... ORPHA:1008
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sensorineural hearing impairment, Short palpebral fissure, Sparse hair, Upslanted palpebral fissu... OMIM:617763
Naegeli-Franceschetti-Jadassohn Syndrome
Flexion contracture of finger, Abnormality of the dentition, Carious teeth, Yellow-brown discolor... ORPHA:69087
Autosomal Agammaglobulinemia
High palate, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent skin infections, Sepsi... ORPHA:33110
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Renal cell carcinoma, Neopl... OMIM:114500
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Hypoplastic toenails, Tooth agenesis, Toenail dysplasia, Alopecia, Anemia, Sho... ORPHA:2325
Autoimmune Polyendocrinopathy Type 4
Thymoma, Iridocyclitis, Alopecia, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Leukopeni... ORPHA:227990
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Congenital Erythropoietic Porphyria
Corneal ulceration, Erythrodontia, Anisocytosis, Facial hypertrichosis, Reticulocytosis, Erythroi... ORPHA:79277
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Leukoencephalopathy, Cerebral cortical atrophy, Basal ganglia calcification, Memory impairment, H... OMIM:618193
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Abnormal lacrimal duct morphology, Abnormal pinna morphology, Absent thumb, H... ORPHA:2363
Corneal ulceration, Ataxia, Hepatomegaly, Steatorrhea, Babinski sign, Vomiting, Fat malabsorption... ORPHA:14
Hypotrichosis 13
Woolly hair, Sparse hair, Sparse eyelashes, Abnormal sweat gland morphology, Abnormality of denta... OMIM:615896
Autoimmune Polyendocrinopathy Type 3
Thymoma, Iridocyclitis, Alopecia, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Autoimmun... ORPHA:227982
Nanophthalmos 4
Microphthalmia OMIM:615972
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Stomach cancer, Diarrhea, Tapered finger, Furrowed tongue, Intestinal pol... ORPHA:2930
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea, Microphthalmia ORPHA:2432
Ifap Syndrome 2
Keratitis, Photophobia, Atrichia, Posterior blepharitis, Sparse hair, Cataract, Nail dystrophy, A... OMIM:619016
Oculodentodigital Dysplasia
Ataxia, Abnormality of the ear, Sparse hair, Cleft palate, Microcornea, Carious teeth, Cataract, ... ORPHA:2710
Facial Clefting, Oblique, 1
Cleft upper lip, Facial cleft, Cleft palate OMIM:600251
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Conjunctivitis, Arthritis OMIM:617772
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Hematochezia, Rectal prolapse,... OMIM:174900
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Wide mouth, Corneal opacity, Ectropion, Thick eyebrow, Microtia, Micrognathia, Long pa... OMIM:602562
Parc Syndrome
Microretrognathia, Absent eyebrow, Cleft palate, Alopecia, Absent eyelashes OMIM:600331
Filippi Syndrome
Hypertrichosis, Sparse hair, Hypodontia, Thin vermilion border, Cutaneous syndactyly, Short philt... OMIM:272440
Keratitis, Corneal ulceration, Pancreatitis, Lymphadenitis, Sepsis, Vomiting, Myocarditis, Biliar... ORPHA:2552
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Cockayne Syndrome Type 2
Photophobia, Widely spaced primary teeth, Ataxia, Anodontia, Hypoplasia of the primary teeth, Cry... ORPHA:90322
Intellectual Developmental Disorder, Autosomal Dominant 21
Hypermetropia, Narrow mouth, Cleft palate, Feeding difficulties, Thin vermilion border, Long phil... OMIM:615502
Eyelid retraction, Keratitis, Ectropion, Abnormal oral cavity morphology, Recurrent bacterial inf... ORPHA:182
Mental Retardation, Buenos Aires Type
High palate, Wide mouth, Protruding ear, Clinodactyly of the 5th finger, Fair hair, Blue irides, ... OMIM:249630
Blepharophimosis-Impaired Intellectual Development Syndrome
Wide mouth, Sparse eyebrow, Short philtrum, Microdontia, Tapered finger, Long eyelashes, Aplastic... OMIM:619293
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Hemifacial Atrophy, Progressive
Dental malocclusion, Ataxia, Patchy alopecia, Microtia, Poliosis, Short mandibular rami, Delayed ... OMIM:141300
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:311895
Isolated Pierre Robin Syndrome
Glossoptosis, Micrognathia, Cleft palate ORPHA:718
Eec Syndrome
Keratitis, Sparse eyebrow, Cleft palate, Coarse hair, Microdontia, Carious teeth, Abnormality of ... ORPHA:1896
Primary Sjögren Syndrome
Chronic active hepatitis, Chorea, Thrombocytopenia, Increased circulating antibody level, Arthrit... ORPHA:289390
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Abnormality of the dentition, Eczema, Abnormal pigmentation of the or... ORPHA:2907
Hypocomplementemic Urticarial Vasculitis
Sensorineural hearing impairment, Ataxia, Hemiplegia/hemiparesis, Hepatomegaly, Skin rash, Spleno... ORPHA:36412
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... OMIM:300755
Sandhoff Disease
Ataxia, Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Hearing impairment, Blindness,... ORPHA:796
Lactase Deficiency, Congenital
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223000
Biotinidase Deficiency
Sensorineural hearing impairment, Ataxia, Hepatomegaly, Skin rash, Recurrent skin infections, Spl... OMIM:253260
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Necrotizing enterocolitis, Intestinal ... OMIM:619350
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Cerebral atrophy, Cognitive impairment, T2 hypointense thalamus, Motor deterioration, Gai... ORPHA:1947
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, Ataxia, Sparse hair, Sparse eyebrow, Tiger tail banding, High, narrow palate... OMIM:619692
Renpenning Syndrome
Cleft palate, Alopecia, Short philtrum, Macrodontia, Cataract, Mandibular prognathia, Anal atresi... ORPHA:3242
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Alopecia, Abnormality of the small int... ORPHA:100025
Frontofacionasal Dysplasia
Depressed nasal ridge, Cleft palate, Dimple on nasal tip, Depressed nasal bridge, Hypoplasia of t... ORPHA:1791
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Corneal scarring, Narrow mouth, Oral mucosal blisters, Constipation, Alopecia, Ab... OMIM:226600
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting OMIM:615863
Acrofacial Dysostosis, Catania Type
Tooth agenesis, Microretrognathia, Abnormality of the dentition, Microcephaly, Carious teeth, Hyp... ORPHA:1786
Cerebrooculonasal Syndrome
High palate, U-Shaped upper lip vermilion, Abnormality of the nares, Long philtrum, Microdontia, ... ORPHA:66625
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Sparse scalp hair, Hypodontia, Sparse eyebrow, Sparse eyelashes, Oligodontia, Natal tooth, Hypopl... OMIM:601345
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Frontonasal Dysplasia 3
Facial cleft, Cleft palate, Underdeveloped nasal alae, Wide nasal bridge OMIM:613456
Crimean-Congo Hemorrhagic Fever
Melena, Hepatomegaly, Neutrophilia, Hemoperitoneum, Hepatic failure, Hemothorax, Subdural hemorrh... ORPHA:99827
Foveal Hypoplasia 2
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Microphthalmia OMIM:609218
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Keratitis, Sensorineural hearing impairment, Malar flattening, Upslanted palpebral fissure, Reduc... OMIM:122430
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Otitis media, Sepsis, Recurrent u... OMIM:602450
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, High, narrow palate, Cleft palate, Depressed nasal ridge, Optic nerve hypoplasia... OMIM:607597
Hepatomegaly, Alopecia, Hepatic failure, Maculopapular exanthema, Thrombocytopenia, Abnormal card... ORPHA:797
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Pili torti, Abnormal eyebrow morphology, Sensorineural hearing impairment, Taurodontia, Abnormal ... ORPHA:3220
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Band keratopathy, Steatorrhea, Alopecia, Cirrhosis, C... OMIM:269200
Oculodentodigital Dysplasia
Paraparesis, Abnormal pinna morphology, Ataxia, Sparse hair, Cleft palate, Dry hair, Microcornea,... OMIM:164200
Periodic Fever, Familial, Autosomal Dominant
Oligoarthritis, Hepatomegaly, Hepatic amyloidosis, Skin rash, Abdominal pain, Cervical lymphadeno... OMIM:142680
Congenital Short Bowel Syndrome
Intestinal atresia, Steatorrhea, Projectile vomiting, Intestinal malrotation, Abnormal peristalsi... OMIM:615237
Gombo Syndrome
Microphthalmia OMIM:233270
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hirsutism, Short toe, Gingival hyperkeratosis, Gingival overgrowth, Hypodontia, Everted lower lip... OMIM:225410
Cranioectodermal Dysplasia 4
Short distal phalanx of finger, Hypermetropia, Protruding ear, Taurodontia, Nyctalopia, Cutaneous... OMIM:614378
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
Coffin-Siris Syndrome 2
High palate, Wide mouth, Abnormal pinna morphology, Cleft palate, Short philtrum, Delayed eruptio... OMIM:614607
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Intractable diarrhea OMIM:613217
Otodental Syndrome
Abnormality of canine, Abnormal molar morphology, Microcornea, Delayed eruption of teeth, Carious... ORPHA:2791
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, Otitis media, Splenomegaly, Eczema, Recurrent opportunisti... OMIM:608971
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Hepatomegaly, Skin rash, Raynaud phenomenon, Rheumatoid arthritis,... ORPHA:79128
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, Recurrent opportunistic infections, Diarrhea, B lymphocytopenia,... OMIM:601457
Zimmermann-Laband Syndrome
High palate, Wide mouth, Hepatomegaly, Cleft palate, Facial hypertrichosis, Downslanted palpebral... ORPHA:3473
Anophthalmia Plus Syndrome
Cleft palate, Abnormal nasal morphology, Bilateral cleft lip and palate, Choanal atresia, Facial ... ORPHA:1104
Polydactyly, Postaxial, Type A6
Broad phalanges of the 5th finger, Postaxial hand polydactyly, Abnormal sweat gland morphology, P... OMIM:615226
Smith-Magenis Syndrome
Constipation, Cleft palate, Short philtrum, Microcornea, Tented upper lip vermilion, Open mouth, ... ORPHA:819
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Ataxia, Cognitive impairment, Cerebellar vermis hypoplasia, Impai... ORPHA:1532
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Gm1 Gangliosidosis
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Spasticity, Gastrostomy tube feedin... ORPHA:354
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increas... ORPHA:169154
Marfanoid-Progeroid-Lipodystrophy Syndrome
High palate, High, narrow palate, Bruising susceptibility, Arachnodactyly, Hyperextensibility of ... OMIM:616914
Meckel Syndrome, Type 8
Short nose, Anophthalmia, Microphthalmia OMIM:613885
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Splenomegaly, Alopecia, Eczema, Abnormality of the nail, Abnormal lympho... ORPHA:2584
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... ORPHA:2485
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Constipation, Sparse hair, Sparse eyebrow, Eczema, Microdontia, Hypoplasia of the ... OMIM:305100
Cerebellar Ataxia And Ectodermal Dysplasia
Ataxia, Agenesis of permanent teeth, Sparse hair, Alopecia OMIM:212835
Gingival Fibromatosis-Hypertrichosis Syndrome
Generalized hirsutism, Hirsutism, Thick eyebrow, Ataxia, Gingival overgrowth, Abnormality of the ... ORPHA:2026
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Nicolaides-Baraitser Syndrome
Wide mouth, Sparse hair, Alopecia, Eczema, Downslanted palpebral fissures, Long eyelashes, Sandal... ORPHA:3051
Liang-Wang Syndrome
Wide mouth, Ataxia, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macr... OMIM:618729
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Muenke Syndrome
High palate, Sensorineural hearing impairment, Cone-shaped epiphyses of the phalanges of the hand... OMIM:602849
Schimke Immuno-Osseous Dysplasia
Hemiplegia, Pancreatitis, Impaired T cell function, Abnormal femoral head morphology, Microdontia... ORPHA:1830
49,Xxxxy Syndrome
Constipation, Cleft palate, Delayed eruption of teeth, Radioulnar synostosis, Carious teeth, Trem... ORPHA:96264
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Microcornea, Delayed eruption of teeth, Downs... OMIM:257850
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Eczema, Sepsis, Sudden cardiac death, Hematochezia, Spontaneous hematoma... ORPHA:906
Acrodermatitis Enteropathica
Cheilitis, Abnormality of the tongue, Alopecia, Glossitis, Furrowed tongue, Poor appetite, Visual... ORPHA:37
Muckle-Wells Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Abdominal pain, Camptodactyly of finger, Vasculitis, Arthr... ORPHA:575
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Short philtrum, Tapered finger, Narrow palm, ... OMIM:216550
Hepatomegaly, Acne, Gastrointestinal hemorrhage, Hyperhidrosis, Malabsorption, Eczematoid dermati... ORPHA:2796
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Cockayne Syndrome Type 1
Widely spaced primary teeth, Ataxia, Hepatomegaly, Abnormality of the dentition, Diarrhea, Tremor... ORPHA:90321
Geographic And Fissured Tongue
Geographic tongue, Furrowed tongue OMIM:137400
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertrichosis, Flexion contracture of finger, Hepatomegaly, Thrombocytopenia, Epididymitis, Thic... OMIM:256040
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Keratitis, Symblepharon, Sepsis, Diarrhea, Pneumonia, Rhinitis, Gastrointestinal inflammation, In... ORPHA:95455
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Hypertonia, Clinodactyly of the 5th finger, Abnormal retinal vascular morphology, Malar flattenin... ORPHA:1390
Hypotrichosis 5
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Otitis media, Recurrent opportunistic infections, Impaired T cell function, Tremor, Pneum... OMIM:613179
Gastrointestinal Stromal Tumor
Intestinal obstruction, Neurofibromas, Dysphagia, Gastrointestinal stroma tumor OMIM:606764
48,Xxxy Syndrome
Constipation, Cleft palate, Delayed eruption of teeth, Radioulnar synostosis, Carious teeth, Trem... ORPHA:96263
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Infant Botulism
Constipation, Abdominal pain, Diplopia, Anorexia, Cerebral palsy, Xerostomia, Chronic otitis medi... ORPHA:178478
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Branchial fistula, Tracheoes... ORPHA:861
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Low-set ears, Hirsutism, Low anterior hairline, Gastroesophageal reflux, Corneal opacity, Sparse ... ORPHA:495875
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Lymphopenia, Hepatomegaly, Skin rash, Splenomega... OMIM:617591
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Burkitt Lymphoma
Abdominal pain, Abnormality of the lymph nodes, Abnormality of the spleen, Increased circulating ... ORPHA:543
Hypertonia, Ataxia, Coma, Hepatomegaly, Skin rash, Splenomegaly, Constipation, Abdominal pain, Ep... ORPHA:99745
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Alopecia universalis, Periodontitis, Congenital alopecia totalis OMIM:104130
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Trichodentoosseous Syndrome
Taurodontia, Fragile nails, Microdontia, Widely spaced teeth, Abnormal hair morphology OMIM:190320
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Generalized hirsutism, Thick eyebrow, Abnormality of the dentition, Delayed ... ORPHA:2222
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent gastroenteritis, Hypertrichosis, Sepsis, Long eyelashes, Bone marrow hypocellularity, D... ORPHA:505248
Lowry-Maclean Syndrome
Low-set ears, Corneal opacity, High, narrow palate, Cleft palate, Talon cusp, Retrognathia, Micro... ORPHA:2409
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal lacrimal duct morphology, Abnormality of the extraocular muscles, Increased circulating ... ORPHA:79078
Aggressive Systemic Mastocytosis
Abdominal cramps, Elevated circulating alkaline phosphatase concentration, Maculopapular exanthem... ORPHA:98850
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Sensorineural hearing impairment, Hypertrichosis, Ataxia, Talipes equinovarus, Short... OMIM:616354
Yao Syndrome
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Xerostomia, Diarrhea, Arthritis,... OMIM:617321
Giant Cell Arteritis
Ataxia, Alopecia, Hepatic failure, Sudden cardiac death, Glossitis, Vertigo, Pericarditis, Visual... ORPHA:397
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Large fleshy ears, Alopecia, Generalized hypoplasia of dental enamel, Carious teeth, Telecanthus,... OMIM:203550
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Sepsis, Recurrent opportunistic infections, Diarrhea, Pneumonia, Recurrent Haemophi... ORPHA:276
Dental malocclusion, Corneal opacity, Narrow palate, Abnormal helix morphology, Gingival overgrow... ORPHA:61
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Congenital Bile Acid Synthesis Defect Type 1
Malabsorption, Hepatomegaly, Nyctalopia, Splenomegaly, Abnormal bleeding, Cirrhosis, Biliary trac... ORPHA:79301
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Vomiting, Villous atrophy, Secretory diarrhea, Micro... OMIM:619445
Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Diarrhea, Vomiting, Acute in... ORPHA:73263
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Cerebral cortical atrophy, Microcephaly, Cerebellar hypoplasia, Hypopl... OMIM:619072
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Arboleda-Tham Syndrome
Wide mouth, Cleft palate, Sparse medial eyebrow, Short philtrum, Underdeveloped tragus, Hammertoe... OMIM:616268
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Attached earlobe, Microcornea, Mandibular prognathia, Short distal phalanx of finger... ORPHA:1327
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Low-set ears, Hirsutism, Low anterior hairline, Protruding ear, Buphthalmos, Laterally extended e... OMIM:618479
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Waldenström Macroglobulinemia
Ataxia, Hepatomegaly, Diarrhea, Vertigo, Gastrointestinal hemorrhage, Leukemia, Malabsorption, Ab... ORPHA:33226
Roifman Syndrome
Hyperconvex nail, Delayed proximal femoral epiphyseal ossification, Eczema, Prominent eyelashes, ... ORPHA:353298
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea OMIM:269400
Ataxia, Unusual CNS infection, Sepsis, Abscess, Diarrhea, Vomiting, Myocarditis, Tremor, Pneumoni... ORPHA:533
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Dyskeratosis Congenita, X-Linked
Ataxia, Alopecia, Carious teeth, Cataract, Pancytopenia, Bone marrow hypocellularity, Pterygium, ... OMIM:305000
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Short thumb, Alopecia OMIM:188150
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Dislocation of the femoral head, Feeding difficulties, Hyperextensibility of the finger joints, L... OMIM:619797
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Ectropion, Dysphagia, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Trichothiodystrophy 3, Photosensitive
Low-set ears, Hypertonia, Ectropion, Lymphopenia, Neutropenia, Brittle hair, Tiger tail banding, ... OMIM:616395
Sulfite Oxidase Deficiency, Isolated
Hemiplegia, Hypertonia, Ataxia, Cerebral visual impairment, Eczema, Episodic vomiting, Delayed er... OMIM:272300
Cardiofaciocutaneous Syndrome 1
High palate, Constipation, Sparse hair, Abnormality of the dentition, Vomiting, Tongue thrusting,... OMIM:115150
Coffin-Siris Syndrome 3
Sparse scalp hair, Wide mouth, Hirsutism, Hypertrichosis, Thick eyebrow, Sparse hair, Macroglossi... OMIM:614608
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Low-set ears, Tooth agenesis, Micrognathia, Camptodactyly of finger, B... ORPHA:2863
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Rectal prolapse, Pericardial lymphangiectasia, Talipes equinovarus, Re... OMIM:235510
Cach Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Dysgyria, Cerebral atrophy, Limb ataxia, Cog... ORPHA:135
Rhizomelic Chondrodysplasia Punctata, Type 1
Sensorineural hearing impairment, Cleft palate, Upslanted palpebral fissure, Alopecia, Micrognath... OMIM:215100
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Blepharitis, Photophobia, Ectropion, Folliculitis, Sparse eyebrow, Sparse eyelashes, N... OMIM:308800
Reynolds Syndrome
Telangiectasia of the skin, Abnormal gastric mucosa morphology, Gastroesophageal reflux, Hepatome... ORPHA:779
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Pili torti, Sparse hair, Reduced visual acuity, Reduced terminal:vellus ratio, Blindness OMIM:601553
Oculofaciocardiodental Syndrome
Cleft palate, Abnormality of the dentition, Microcornea, Delayed eruption of teeth, Radioulnar sy... ORPHA:2712
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Feeding difficulties in infancy, Clinodactyly of the 5th toe, Nausea and vo... ORPHA:99977
Intellectual Disability, Birk-Barel Type
Protruding ear, High, narrow palate, Feeding difficulties, Micrognathia, Short philtrum, Nasogast... ORPHA:166108
Crouzon Syndrome
Conductive hearing impairment, Narrow palate, Amblyopia, Iris coloboma, Hypoplasia of the maxilla... ORPHA:207
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Meningitis, Intermittent thrombocytopenia, Decreased circulatin... OMIM:616740
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Talipes equinovarus, Constipation, Feeding difficulties, Oculogyric crisis,... ORPHA:101150
Sézary Syndrome
Ectropion, Hepatomegaly, Splenomegaly, Alopecia, Tremor, Abnormal immunoglobulin level, Nail dyst... ORPHA:3162
Ataxia, Hepatomegaly, Hepatic failure, Abnormality of extrapyramidal motor function, Sepsis, Prim... ORPHA:352
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
High palate, Recurrent skin infections, Alopecia, Abnormality of the dentition, Eczema, Atopic de... OMIM:618282
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Macrocephaly, Cleft palate, Short mandibular rami, Glossoptosi... OMIM:614669
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Bilateral cleft lip and palate, Facial cleft, Absent septum pellucidum OMIM:601357
Wild Type Abeta2M Amyloidosis
Abnormality of the thenar eminence, Dysesthesia, Macroglossia, Arrhythmia, Arthritis, Tetraparesi... ORPHA:85446
H Syndrome
Hypertrichosis, Alopecia, Abnormal cardiovascular system physiology, Facial telangiectasia, Hypog... ORPHA:168569
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Xeroderma Pigmentosum, Complementation Group D
Keratitis, Sensorineural hearing impairment, Ataxia, Ectropion, Telangiectasia, Photophobia, Corn... OMIM:278730
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Sensorineural hearing impairment, Hypertonia, Taurodontia, High hypermetropia, High, narrow palat... ORPHA:3214
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sensorineural hearing impairment, Photophobia, Sparse hair, Alopecia, Fragile nails, Cirrhosis, E... OMIM:242150
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Ulnar deviation of the hand, Hypodontia, Alopecia, Carious teeth, Ulnar deviation of the hand or ... OMIM:612079
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Zika Virus Disease
Lens subluxation, Skin rash, Subcutaneous hemorrhage, Maculopapular exanthema, Myelitis, Vomiting... ORPHA:448237
Ichthyosis, Congenital, Autosomal Recessive 11
Pili torti, Blepharitis, Corneal opacity, Photophobia, Sparse hair, Brittle hair, Sparse eyelashe... OMIM:602400
Abdominal cramps, Corneal ulceration, Bloody mucoid diarrhea, Hepatic failure, Sepsis, Abscess, V... ORPHA:810
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Follicular hyperplasia,... OMIM:603909
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Microphthalmia OMIM:120433
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Constipation, Diarrhea, Vomiting, Uveitis, Vertigo, Pericarditis, Splenomegaly, Peritonitis, Arth... ORPHA:32960
Craniofaciofrontodigital Syndrome
Hypertrichosis, Finger joint hypermobility, Sacral hypertrichosis, Pyloric stenosis, Gastrointest... ORPHA:363705
Abnormal basal ganglia morphology, Iron accumulation in substantia nigra, Cognitive impairment, T... ORPHA:157846
Oliver-Mcfarlane Syndrome
Sparse hair, Decreased response to growth hormone stimulation test, Alopecia, Hypogonadotropic hy... OMIM:275400
Inhalational Anthrax
Sepsis, Confusion, Vomiting, Hypotension, Abnormal sweat gland morphology, Internal hemorrhage ORPHA:247257
Mucopolysaccharidosis Type 3
Ataxia, Hepatomegaly, Constipation, Otitis media, Constriction of peripheral visual field, Abnorm... ORPHA:581
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Erythermalgia, Primary
Constipation, Blurred vision, Xerostomia, Palpitations, Diarrhea, Keratoconjunctivitis sicca, Hyp... OMIM:133020
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Classic Galactosemia
Ataxia, Hepatomegaly, Hepatic failure, Sepsis, Primary amenorrhea, Diarrhea, Vomiting, Secondary ... ORPHA:79239
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the pons, Cerebellar atrophy OMIM:618276
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Muckle-Wells Syndrome
Leukocytosis, Maculopapular exanthema, Recurrent aphthous stomatitis, Clubbing of fingers, Hearin... OMIM:191900
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Roifman Syndrome
Hepatomegaly, Eczema, Prominent eyelashes, Downslanted palpebral fissures, Single transverse palm... OMIM:616651
Hereditary Sensory And Autonomic Neuropathy Type 4
Corneal ulceration, Abscess, Hyperhidrosis, Septic arthritis, Osteomyelitis, Trophic limb changes... ORPHA:642
African Trypanosomiasis
Keratitis, Impotence, Hepatomegaly, Alopecia, Delirium, Diarrhea, Vomiting, Myocarditis, Tremor, ... ORPHA:3385
Hidrotic Ectodermal Dysplasia
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Absent pubi... ORPHA:189
Leukocyte Adhesion Deficiency
Otitis media, Abnormality of the dentition, Sepsis, Severe periodontitis, Impaired platelet aggre... ORPHA:2968
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse hair, Alopecia, Abnormality of the dentition, Carious teeth, Downslanted palpebral fissure... ORPHA:3253
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Cri-Du-Chat Syndrome
High palate, Abnormal pinna morphology, Recurrent infections in infancy and early childhood, Shor... OMIM:123450
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Cognitive impairment, Cavum septum pellucidu... ORPHA:300573
Multiple Carboxylase Deficiency
Ataxia, Coma, Abnormal enzyme/coenzyme activity, Spastic paraparesis, Skin rash, Alopecia, Feedin... ORPHA:148
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Plagiocephaly, Abnormal basal ganglia morphology, Small basal ganglia, Large basal ganglia, Abnor... ORPHA:300570
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia, Sparse hair OMIM:272980
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Hepatomegaly, Increased circulating IgA level, Abdominal pain, Peritonitis, Diarrhea, Vas... ORPHA:343
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Abnormal pinna morphology, Absent eyebrow, Brittle hair, Alopecia, Sparse b... ORPHA:2890
Omenn Syndrome
Short toe, Hepatomegaly, Leukocytosis, Splenomegaly, Aplasia/Hypoplasia of the eyebrow, Alopecia,... ORPHA:39041
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Hepatomegaly, Short philtrum, Downslanted palpebral fissures, Tremor, Open mouth, Th... OMIM:618342
Mcdonough Syndrome
Dental malocclusion, Protruding ear, Short palpebral fissure, Open bite, Micrognathia, Short phil... ORPHA:2471
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
High palate, Cleft palate, High myopia, Cataract, Open mouth, Thick lower lip vermilion, Short di... OMIM:220500
Aarskog-Scott Syndrome
Cleft palate, Abnormality of the dentition, Megalocornea, Delayed eruption of teeth, Downslanted ... ORPHA:915
Progeria-Short Stature-Pigmented Nevi Syndrome
Supraventricular arrhythmia, Band keratopathy, Fragile teeth, Alopecia, Hypergonadotropic hypogon... ORPHA:2959
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Hypoplasia of the fovea, Microcornea, Peters anomaly, Rieger anomaly, Hypo... OMIM:604229
Hermansky-Pudlak Syndrome
Long eyelashes, Cataract, Menometrorrhagia, Gastrointestinal hemorrhage, Visual impairment, Malab... ORPHA:79430
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Protruding ear, Sparse hair, Alopecia, Everted lower lip vermilion, Onychogryposis of fingernail,... ORPHA:2251
Deafness-Craniofacial Syndrome
Short lingual frenulum, Hearing impairment, Alopecia OMIM:125230
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Cheilitis, Sparse hair, Alopecia, Eczema, Uveitis, Scleritis, Blepharitis, Feeding dif... ORPHA:2273
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Cyanosis, Myoclonus, Confusion, Hemiparesis, Chore... ORPHA:71277
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction, Dysphagia, Gastrointestinal... ORPHA:97286
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Sclerocornea ORPHA:139471
Adult Syndrome
Absent nipple, Sparse scalp hair, Fair hair, Hypodontia, Sparse axillary hair, Split foot, Eczema... OMIM:103285
Hypomelanosis Of Ito
Irregularly spaced teeth, Alopecia, Syndactyly, Epicanthus, Iris coloboma, Radial deviation of fi... OMIM:300337
Antisynthetase Syndrome
Telangiectasia of the skin, Skin rash, Xerostomia, Myositis, Myocarditis, Aortic regurgitation, D... ORPHA:81
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
High palate, Hypertrichosis, Mitral regurgitation, Hepatosplenomegaly, Downslanted palpebral fiss... OMIM:619750
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Kury-Isidor Syndrome
High palate, Hypertrichosis, Talipes equinovarus, Triangular mouth, Feeding difficulties, Alopeci... OMIM:619762
Mcdonough Syndrome
Hypoplastic toenails, Dental malocclusion, Aortic valve stenosis, Sparse hair, Upslanted palpebra... OMIM:248950
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Foca... ORPHA:216873
Trichorhinophalangeal Syndrome, Type I
Sparse hair, Delayed eruption of teeth, Microdontia, Carious teeth, Slow-growing hair, Sparse lat... OMIM:190350
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Poor fine motor coordination, Malar flattening, Attached earlobe, Upslanted ... ORPHA:436245
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Photophobia, Ectropion, Cleft palate, Recurrent skin infections, Recurrent urina... ORPHA:33001
Fibromatosis, Gingival, With Distinctive Facies
High palate, Thick eyebrow, Persistence of primary teeth, Everted lower lip vermilion, Gingival f... OMIM:228560
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Biotinidase Deficiency
Sensorineural hearing impairment, Recurrent candida infections, Ataxia, Eczematoid dermatitis, Re... ORPHA:79241
Scrub Typhus
Photophobia, Skin rash, Splenomegaly, Abnormal bleeding, Abdominal pain, Myocarditis, Anterior uv... ORPHA:83317
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Acne inversa, Short philtrum, Hypohidrosis, Nail dystrophy, Hypoplastic sweat glands, Natal tooth OMIM:617337
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ptosis, Long philtrum, Choreoathetosis, Dystonia, Lethargy, Episodic ataxia OMIM:312170
Vascular Hyalinosis
Malabsorption, Diarrhea, Protein-losing enteropathy, Hematochezia OMIM:277175
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, Sparse scalp hair, Hypoplastic toenails, 2-3 toe cutaneous syndactyly, Patchy alopeci... OMIM:613573
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... OMIM:300853
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Thick eyebrow, Everted lower lip vermilion, Gingival fibromatos... ORPHA:2025
Adams-Oliver Syndrome
Sparse hair, Alopecia, Abnormality of the upper limb, Esophageal varix, Cataract, Gastrointestina... ORPHA:974
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Stomach cancer, Otit... ORPHA:331235
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Photophobia, Subepithelial corneal opacities, Irregular astigmatism, Blurred vi... ORPHA:293381
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Perifolliculitis, Alopecia of scalp OMIM:260910
Vici Syndrome
Cleft palate, Abnormality of the thymus, Recurrent viral infections, Cutaneous anergy, Cleft uppe... OMIM:242840
Porphyria, Congenital Erythropoietic
Cholelithiasis, Corneal scarring, Hypertrichosis, Erythrodontia, Absent eyebrow, Joint contractur... OMIM:263700
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Bilateral microphthalmos OMIM:608763
Hemiplegia, Babinski sign, Excessive daytime somnolence, Vertigo, Trismus, Central retinal artery... ORPHA:863
Dermatitis, Atopic
Recurrent skin infections, Eczema, Atopic dermatitis, Allergic rhinitis, Keratoconus, Cataract, C... OMIM:603165
Pseudohypoparathyroidism Type 1B
Abdominal symptom, Diaphyseal sclerosis, Decreased response to growth hormone stimulation test, L... ORPHA:94089
Whipple Disease
Ataxia, Hepatomegaly, Diarrhea, Myocarditis, Myocardial infarction, Erectile dysfunction, Uveitis... ORPHA:3452
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Ataxia, Hepatomegaly, Splenomegaly, Paronychia, Impaired T cell fun... OMIM:201100
Kawasaki Disease
Cheilitis, Cervical lymphadenopathy, Diarrhea, Myocarditis, Glossitis, Pericarditis, Jaundice, Ar... ORPHA:2331
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Iris coloboma, Cataract, Microphthalmia OMIM:212550
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Systemic Lupus Erythematosus 17
Optic neuritis, Lymphopenia, Alopecia, Raynaud phenomenon, Mitral regurgitation, Leukopenia, Myel... OMIM:301080
Alopecia Areata 1
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits OMIM:104000
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
High palate, Uplifted earlobe, Protruding ear, Wide mouth, Cerebral visual impairment, Visual fie... OMIM:615722
Pediatric Systemic Lupus Erythematosus
Hemiplegia, Discoid lupus rash, Alopecia, Diarrhea, Vomiting, Microangiopathic hemolytic anemia, ... ORPHA:93552
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Microphthalmia OMIM:610023
Cinca Syndrome
Sensorineural hearing impairment, Blindness, Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Na... ORPHA:1451
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... OMIM:606367
Ogden Syndrome
Torticollis, Low-set ears, Hypertonia, Microretrognathia, High, narrow palate, Everted upper lip ... ORPHA:276432
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Ar... OMIM:602390
Erythrokeratodermia Variabilis
Generalized hirsutism, Protruding ear, Corneal opacity, Skin rash, Alopecia, Brachydactyly, Taper... ORPHA:317
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Photophobia, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hy... ORPHA:2850
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
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly, Chiari type I malformation, Hypertelorism, Agenesis of corpus callosum ORPHA:459074
Incontinentia Pigmenti
Keratitis, Telangiectasia of the skin, Alopecia, Delayed eruption of teeth, Abnormal hand morphol... ORPHA:464
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Coombs-positive hemolytic anemia, Alopecia, Severe infection, Eczema, Eosinophilia, Glomer... OMIM:304790
Aredyld Syndrome
Narrow mouth, Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Sparse body hair, Aplasia/Hy... ORPHA:1133
Hamamy Syndrome
High palate, Wide mouth, Sparse hair, Sparse eyebrow, Tapered finger, High myopia, Sparse lateral... OMIM:611174
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Progressive language deterioration, Cogn... ORPHA:79264
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... ORPHA:500166
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Cleft palate, Talon cusp, Brachydactyly, Syndactyly, Microdontia, Radioulnar s... OMIM:605282
Craniosynostosis 3
Dental malocclusion, Low anterior hairline, Brachydactyly, Single transverse palmar crease, Hallu... OMIM:615314
Chronic Graft Versus Host Disease
Alopecia, Diarrhea, Pancytopenia, Arthritis, Elevated hepatic transaminase, Fasciitis, Photophobi... ORPHA:99921
Griscelli Syndrome
Abnormal eyebrow morphology, Ataxia, Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Si... ORPHA:381
Bullous Dystrophy, Hereditary Macular Type
Tapered finger, Alopecia totalis, Abnormality of the nail, Acrocyanosis, Short finger OMIM:302000
Dermatoosteolysis, Kirghizian Type
Keratitis, Nail dysplasia, Joint contracture of the hand, Oligodontia, Nail dystrophy, Split hand... OMIM:221810
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Hypodontia, Everted lower lip vermilion, Fragile nails, Abnormality of the ... ORPHA:2228
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Dental malocclusion, Tapered finger, Long fingers, Downslanted palpebral fissures, E... OMIM:618292
Monosomy 18P
Abnormal antihelix morphology, Protruding ear, Tooth malposition, Cleft palate, Alopecia, Hypodon... ORPHA:1598
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Carious teeth, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Prolong... OMIM:608233
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Low anterior hairline, Ovarian neoplasm, Sparse h... OMIM:617883
Severe Canavan Disease
Gastroesophageal reflux, Feeding difficulties, Poor suck, Decerebrate rigidity, Babinski sign, Vo... ORPHA:314911
Secondary Short Bowel Syndrome
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... ORPHA:95427
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Adenomatous colonic polyposis, Hereditary nonpolyposis colorectal carcinoma, Colon cancer, Endome... OMIM:613244
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Hyperconvex nail, Long philtrum, Delayed eruption ... OMIM:157980
Temple-Baraitser Syndrome
High palate, Wide mouth, Constipation, Short phalanx of the thumb, Delayed eruption of teeth, Lon... ORPHA:420561
Rubinstein-Taybi Syndrome 1
High palate, Dental crowding, Constipation, Cleft palate, Prominent fingertip pads, Facial hypert... OMIM:180849
Frontonasal Dysplasia 2
Depressed nasal ridge, Depressed nasal bridge, Depressed nasal tip, Cleft ala nasi, Wide nasal ri... OMIM:613451
Short Syndrome
Sensorineural hearing impairment, Corneal opacity, Abnormal pupil morphology, Sparse hair, Malar ... ORPHA:3163
Marburg Hemorrhagic Fever
Odynophagia, Pancreatitis, Maculopapular exanthema, Diarrhea, Vomiting, Uveitis, Dysesthesia, Ret... ORPHA:99826
Juvenile Temporal Arteritis
Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis ORPHA:26137
Cerebrooculofacioskeletal Syndrome 1
Sensorineural hearing impairment, Hirsutism, Abnormality of the ear, Coxa valga, Joint contractur... OMIM:214150
Catifa Syndrome
Tooth malposition, Cleft palate, Microtia, Long philtrum, Delayed eruption of teeth, Amblyopia, C... OMIM:618761
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Recurrent enteroviral infections, Decreased response to growth hormone st... OMIM:307200
22Q11.2 Deletion Syndrome
Cholelithiasis, Constipation, Cleft palate, Overfolded helix, Abnormality of the dentition, Short... ORPHA:567
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Micrognathia, Cleft palate ORPHA:3104
Omenn Syndrome
Recurrent fungal infections, Hepatomegaly, Splenomegaly, Alopecia, Hypoplasia of the thymus, Recu... OMIM:603554
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Hepatomegaly, Diarrhea, Vomiting, Hypogonadism, Gastrointestinal hemorrhage, Abnormal ... ORPHA:85450
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Iris coloboma, Cataract, Microphthalmia ORPHA:1473
Anencephaly 2
Anophthalmia OMIM:619452
Oculocerebrocutaneous Syndrome
Wide mouth, Cerebellar hypoplasia, Polymicrogyria, Oral cleft, Facial cleft, Dandy-Walker malform... ORPHA:1647
Microphthalmia ORPHA:35612
Phelan-Mcdermid Syndrome
High palate, Tongue thrusting, Long eyelashes, Hypoplastic toenails, Clinodactyly of the 5th fing... OMIM:606232
Rothmund-Thomson Syndrome, Type 2
High palate, Sparse hair, Sparse eyebrow, Alopecia, Overfolded helix, Microcornea, Delayed erupti... OMIM:268400
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair ORPHA:505
Hypohidrosis With Abnormal Palmar Dermal Ridges
Hypohidrosis, Abnormal palmar dermal ridges, Decreased number of sweat glands OMIM:241120
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Coma, Hepatomegaly, Splenomegaly, Feeding difficulties, Abdominal pain, Anorexia, C... ORPHA:79312
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Alopecia, Eczema, Sepsis, Vomiting, Pneumonia, Malabsorptio... ORPHA:37042
Gabriele-De Vries Syndrome
Abnormal pinna morphology, Malar flattening, Feeding difficulties, Abnormality of the dentition, ... OMIM:617557
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Corneal ulceration, Yellow nails, Photophobia, Cleft palate, Recurrent corneal e... OMIM:153400
Otodental Dysplasia
Sensorineural hearing impairment, Taurodontia, Agenesis of premolar, Long philtrum, Delayed erupt... OMIM:166750
Hypermobile Ehlers-Danlos Syndrome
Constipation, Abnormality of the dentition, Microdontia, Keratoconus, Anorectal anomaly, Vertigo,... ORPHA:285
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Dental malocclusion, Hallux valgus, Synophrys, Macrotia, Anteverted ears OMIM:615541