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 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
abnormal startle reflex Ctnnb1Bfc HET Early adult 3.60×10-09
increased bone mineral density Ctnnb1Bfc HET Early adult 1.44×10-07

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
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... OMIM:114500
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Peripheral retinal avascularization, Cataract, Blindness, Vitreous floate... ORPHA:891
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Thin upper lip vermilion, Broad nasal tip, High palate, Hypoplasia of the corpus callosum, Primar... OMIM:615075
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Thin upper lip vermilion, Underdeveloped nasal alae, Broad nasal tip, Microcephaly, Long philtrum... ORPHA:404473
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Enlarged pituitary gland, Cerebral calcification, Neoplasm of the anterior pituitary, Pituitary h... ORPHA:54595
Medulloblastoma OMIM:155255
Pilomatrixoma OMIM:132600
Pilomatrixoma, Neoplasm of head and neck ORPHA:91414
Adrenocortical Carcinoma
Abdominal pain, Adrenocorticotropic hormone deficiency, Abnormality of reproductive system physio... ORPHA:1501
Hepatocellular Carcinoma
Hepatocellular carcinoma OMIM:114550
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Abdominal pain, Portal vein thrombosis, Hepatic necrosis, Hepatic fibrosis, Vomiting 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
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma OMIM:616428
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... ORPHA:157794
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Sparse hair, Microdontia,... OMIM:129400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Male hypogonadism, Alopecia universalis, ... OMIM:240300
Lactose Intolerance, Adult Type
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223100
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, High, narrow palate, Abnormal pyr... ORPHA:33364
Agel Amyloidosis
Tongue atrophy, Cataract, Ataxia, Orthostatic hypotension due to autonomic dysfunction, Bilateral... ORPHA:85448
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Increased bone mineral density OMIM:166450
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos OMIM:611638
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Increased bone mineral density OMIM:265880
Mixed Connective Tissue Disease
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Meningitis, Hepatomegaly, Alopecia, He... ORPHA:809
Basal Ganglia Calcification, Idiopathic, 5
Cerebral calcification, Cerebellar calcifications, Basal ganglia calcification, Chorea, Athetosis... OMIM:615483
Trichothiodystrophy 1, Photosensitive
Brittle hair, Protruding ear, Microcornea, Photophobia, Sparse hair, Tiger tail banding, Decrease... OMIM:601675
Kid Syndrome
Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Posterior blepharitis, Prelingu... ORPHA:477
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... OMIM:619079
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
X-Linked Agammaglobulinemia
Sinusitis, Sepsis, Glossoptosis, Conjunctivitis, Neutropenia, Chronic otitis media, Meningitis, R... ORPHA:47
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphadenopathy, ... ORPHA:3392
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent... OMIM:240500
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Macrotia, ... OMIM:234050
Jejunal Atresia
Jejunal atresia OMIM:243600
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Blindness, Cataract, Abnormal fingernail morphology, Corneal dy... ORPHA:1806
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Absent pubic hair, Photophobia, Microdontia, Sparse eyebrow, Corneal scarring, Absent axillary ha... OMIM:148210
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic... ORPHA:2722
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Abnormality of the dentition, Hearin... OMIM:612841
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, B... OMIM:607594
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Alopecia, Recurrent ... ORPHA:499
Recon Progeroid Syndrome
Smooth philtrum, Attached earlobe, Prominence of the premaxilla, Dental crowding, Arachnodactyly,... OMIM:620370
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Microcephaly, Broad nasal tip, Micrognathia, Facial cleft, Cleft palate, Bifid n... OMIM:239800
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Facial cleft, Abnormal oral frenulum morphology, Sol... ORPHA:952
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Mucoepithelial Dysplasia, Hereditary
Erythematous oral mucosa, Photophobia, Coarse hair, Sparse hair, Alopecia, Chronic diarrhea, Blin... OMIM:158310
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea OMIM:613291
Behçet Disease
Myositis, Myocardial infarction, Anorexia, Pulmonary embolism, Abnormal pyramidal sign, Oral ulce... ORPHA:117
Poikiloderma With Neutropenia
Micrognathia, Leukopenia, Conjunctivitis, Neutropenia, Sparse eyebrow, Recurrent bronchopulmonary... OMIM:604173
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Tenorio Syndrome
Mandibular prognathia, Telecanthus, Cerebral palsy, Raynaud phenomenon, Recurrent pneumonia, Clum... OMIM:616260
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Rubinstein-Taybi Syndrome 2
Micrognathia, High palate, Prominent fingertip pads, Posterior helix pit, Syndactyly, Broad hallu... OMIM:613684
Microcephaly 5, Primary, Autosomal Recessive
Flat occiput, Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, ... OMIM:608716
48,Xxyy Syndrome
Tremor, Feeding difficulties in infancy, Gastroesophageal reflux, Chronic otitis media, Clinodact... ORPHA:10
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Hypoplasia of the pons, Attention deficit hyp... ORPHA:467166
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Abdominal pain, Mediastinal lymphaden... ORPHA:91138
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Conjunctiviti... OMIM:603552
Coasy Protein-Associated Neurodegeneration
Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Cognitive impairment, E... ORPHA:397725
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Basal ganglia calcification, Chorea, Hypoesthesia, Dysmetria, Thalamic calcification, Men... OMIM:618317
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Cockayne Syndrome
Dry hair, Feeding difficulties in infancy, Photophobia, Progressive gait ataxia, Retinal arteriol... ORPHA:191
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Supernumerary Nostril
Abnormality of ethmoid sinus, Supernumerary naris, Facial cleft, Choanal atresia ORPHA:141096
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Cer... OMIM:604213
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Cataract, Sparse e... OMIM:129500
Microphthalmia, Syndromic 12
Neonatal death, Microphthalmia, Anophthalmia, Wide nasal bridge OMIM:615524
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Sepsis, Uveitis, Inflammation o... OMIM:614700
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Abnormal dental morphology, Abnorma... ORPHA:238468
Hepatoerythropoietic Porphyria
Abnormal bleeding, Recurrent bacterial skin infections, Abnormal circulating enzyme concentration... ORPHA:95159
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Cerebellar calcifications, Basal ganglia calcification, Limb ataxia, Thalamic calcification, Ment... OMIM:618824
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Decreased response to growth hormone stimulation test, Micrognathia, Achal... OMIM:616007
Candidiasis, Familial, 1
Alopecia, Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis, Premat... OMIM:114580
Cranioectodermal Dysplasia
Myopia, Epicanthus, Finger syndactyly, Abnormal fingernail morphology, Abnormal dental enamel mor... ORPHA:1515
Classical-Like Ehlers-Danlos Syndrome Type 2
Impaired temperature sensation, Micrognathia, Equinus calcaneus, Periodontitis, High palate, Prem... ORPHA:536532
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... ORPHA:103907
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Anorectal anomaly, Hyperhidros... ORPHA:1775
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Crypt hyperplasia OMIM:613217
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Nasogastric tube feeding in i... OMIM:106260
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:261800
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Abnormal sweat gland morphology, Ab... OMIM:607823
Oculomaxillofacial Dysostosis
Median cleft lip, Underdeveloped nasal alae, Abnormality of the nose, Abnormality of the dentitio... ORPHA:1794
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Periodo... ORPHA:1008
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Cari... OMIM:612843
Cockayne Syndrome Type 3
Dry hair, Premature graying of hair, Microcornea, Photophobia, Lentiglobus, Gastroesophageal refl... ORPHA:90324
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Alopecia, Ataxia, Eczema, Anorexia, Keratoconjunctivitis, Lethargy, Thromboc... ORPHA:79242
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glan... OMIM:617337
Hypotrichosis 3
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Abnormal sweat glan... OMIM:613981
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... ORPHA:227990
Spinocerebellar Ataxia, Autosomal Recessive 20
Dental crowding, High palate, Hepatomegaly, Ataxia, Thick vermilion border, Apraxia, Broad philtr... OMIM:616354
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin... ORPHA:33110
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal fingernai... ORPHA:2325
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... ORPHA:227982
Impaired distal proprioception, Impaired proprioception, Dysmetria, Gait ataxia, Hepatic fibrosis... ORPHA:14
Congenital Erythropoietic Porphyria
Anisocytosis, Increased stool urobilinogen concentration, Scarring alopecia of scalp, Increased f... ORPHA:79277
Cronkhite-Canada Syndrome
Anorexia, Hypoplastic toenails, Hamartomatous polyposis, Stomach cancer, Dystrophic fingernails, ... ORPHA:2930
Ifap Syndrome 2
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Photophobia, Keratoconjunctivitis ... OMIM:619016
Oculodentodigital Dysplasia
Mandibular prognathia, Brittle hair, Micrognathia, Clinodactyly, Abnormality of the ear, Microcor... ORPHA:2710
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Conductive hearing impairment, Abnormal s... ORPHA:2363
Naegeli-Franceschetti-Jadassohn Syndrome
Palmoplantar hyperkeratosis, Premature loss of teeth, Subungual hyperkeratosis, Abnormal dental m... ORPHA:69087
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Basal ganglia calcification, T2 hypointense thalamus, Leukoencephalopathy, Demen... OMIM:618193
Intellectual Developmental Disorder, Autosomal Dominant 21
Epicanthus, Posteriorly rotated ears, Single transverse palmar crease, Cryptorchidism, Patent duc... OMIM:615502
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Chorea, Xerostomia, Tubulointerstitial nep... ORPHA:289390
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Smooth philtrum, Corneal opacity, Posteriorly rotated ears, Micrognathia, Keratitis, Synophrys, W... OMIM:602562
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis, Lymphadenopathy OMIM:617772
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the parathyroid gland, ... ORPHA:2552
Parc Syndrome
Microretrognathia, Absent eyebrow, Alopecia, Absent eyelashes, Cleft palate OMIM:600331
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Filippi Syndrome
Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Cutaneous syndactyly, Finger... OMIM:272440
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... ORPHA:1791
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Abnormality of the upper l... ORPHA:182
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Short attention span, Abno... ORPHA:500166
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Cockayne Syndrome Type 2
Mandibular prognathia, Hepatomegaly, Lower limb spasticity, Ataxia, Delayed eruption of primary t... ORPHA:90322
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Ataxia, Poliosis, Dental malocclusion, Horner syndrome... OMIM:141300
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:311895
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Cerebrooculonasal Syndrome
Facial cleft, Widely spaced teeth, High palate, Solitary median maxillary central incisor, Long p... ORPHA:66625
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... OMIM:300755
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Alopecia, Cataract, Oral mucosal blisters, Esophageal strictu... OMIM:226600
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... ORPHA:1896
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinop... OMIM:602450
Trichothiodystrophy 9, Nonphotosensitive
Epicanthus, Ataxia, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Spa... OMIM:619692
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Ataxia, T2 hypointense thalamus, Cerebral atrophy, Gait ataxia, Dementia, Cog... ORPHA:1947
Sandhoff Disease
Recurrent respiratory infections, Hepatomegaly, Blindness, Ataxia, Splenomegaly, Congestive heart... ORPHA:796
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Gingivitis, Palmoplantar hyperkeratosis, Dystrophic fingernails, Finger syndactyly, O... ORPHA:2907
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Nausea and vomiting, Cerebral palsy, Skin rash, Ataxia, Abdominal pai... ORPHA:36412
Biotinidase Deficiency
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Ataxia, Seborrheic dermatitis, Feed... OMIM:253260
Acrofacial Dysostosis, Catania Type
Smooth philtrum, Microretrognathia, Microcephaly, Abnormality of the dentition, Carious teeth, Fa... ORPHA:1786
Blepharophimosis-Impaired Intellectual Development Syndrome
Synophrys, Low anterior hairline, Short philtrum, Widely spaced teeth, Gastroesophageal reflux, M... OMIM:619293
Renpenning Syndrome
Mandibular prognathia, High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Iris ... ORPHA:3242
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Choanal atresia, Cleft upper lip, High, narrow palate, Depressed nasal ri... OMIM:607597
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Vomiting, Protein-losing enteropathy, Villous atrophy OMIM:615863
Cranioectodermal Dysplasia 4
Epicanthus, Nyctalopia, Recurrent pneumonia, Onychogryposis, Hypermetropia, Protruding ear, Thin ... OMIM:614378
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... OMIM:615237
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Tubulointerstitial nephrit... ORPHA:797
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... OMIM:613493
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Cataract, Band keratopathy, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chr... OMIM:269200
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Abnormal nasolacr... ORPHA:3220
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption,... ORPHA:100025
Coffin-Siris Syndrome 2
Low anterior hairline, High palate, Short philtrum, Cryptorchidism, Thick vermilion border, Absen... OMIM:614607
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Mediastinal lymphadenopathy, Severe viral in... ORPHA:79128
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Abdomina... OMIM:142680
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Diarrhea, Oral... OMIM:608971
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Otodental Syndrome
Lens coloboma, Microcornea, Periodontitis, Otitis media with effusion, Abnormal dental pulp morph... ORPHA:2791
Zimmermann-Laband Syndrome
Micrognathia, Large fleshy ears, High palate, Absent fingernail, Bifid uvula, Hepatomegaly, Super... ORPHA:3473
Nicolaides-Baraitser Syndrome
High, narrow palate, Abnormal finger morphology, Short palm, Sparse hair, Alopecia, Curly eyelash... ORPHA:3051
Cach Syndrome
Cerebellar atrophy, Progressive neurologic deterioration, Microcephaly, T2 hypointense thalamus, ... ORPHA:135
Oculodentodigital Dysplasia
Dry hair, Selective tooth agenesis, Clinodactyly, Uveitis, Microcornea, High palate, Joint contra... OMIM:164200
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Sepsis, Gastrointestinal... ORPHA:95455
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Keratitis, Abnormal hair morphology, Patent ductus arteriosus, Sensorineural hearing impairment, ... OMIM:122430
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... OMIM:114500
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Myopia, Alopecia, Ataxia, Decreased response to growth hormone stimulation test, Abnormality of t... ORPHA:3363
Anophthalmia Plus Syndrome
Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Facial cleft, Cleft palate, Bi... ORPHA:1104
Giant Cell Arteritis
Anorexia, Hyperhidrosis, Gastrointestinal infarctions, Conductive hearing impairment, Meningitis,... ORPHA:397
Frontonasal Dysplasia 3
Facial cleft, Wide nasal bridge, Cleft palate, Underdeveloped nasal alae OMIM:613456
Gombo Syndrome
Microphthalmia OMIM:233270
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Sparse scalp hair, Natal tooth, Sparse eyelashes, Sparse eyebrow, Hypoplastic sweat glands, Oligo... OMIM:601345
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacteria... OMIM:612692
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Oral ulcer, Recurrent candida infections, T lymphocytopenia, Increase... ORPHA:169154
Acrodermatitis Enteropathica
Ridged nail, Anorexia, Abnormal eyelid morphology, Poor appetite, Paronychia, Photophobia, Conjun... ORPHA:37
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Abdominal pain, Splenomegaly, Vas... ORPHA:575
Liang-Wang Syndrome
Thin upper lip vermilion, Ataxia, Diastema, Synophrys, Gingival overgrowth, Downturned corners of... OMIM:618729
Gm1 Gangliosidosis
Mandibular prognathia, Tremor, Decreased beta-galactosidase activity, Gastroesophageal reflux, De... ORPHA:354
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Ectopia lentis, Feedin... OMIM:616914
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Microdontia, Minimal change glomerulonephritis, Abnormal p... ORPHA:1830
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Feeding difficulties in infancy,... ORPHA:819
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Skin rash, Eczema, Abnormal eyelid morphology, Splenomegaly, Lymphadenopa... ORPHA:2584
49,Xxxxy Syndrome
Mandibular prognathia, Pulmonary embolism, Tremor, Gastroesophageal reflux, Chronic otitis media,... ORPHA:96264
Muenke Syndrome
Brachydactyly, Broad hallux, Hearing impairment, Amblyopia, Capitate-hamate fusion, Sensorineural... OMIM:602849
Gómez-López-Hernández Syndrome
Turricephaly, Cerebellar vermis hypoplasia, Ataxia, Hypertelorism, Impaired pain sensation, Abnor... ORPHA:1532
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Myopia, Cryptorchidism, Synophrys, Hypermetropia, Downturned corners of... OMIM:618067
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Sparse h... OMIM:305100
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Myopia, Epicanthus, Brachydactyly, Abnormal retinal vascular m... ORPHA:1390
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Cockayne Syndrome Type 1
Mandibular prognathia, Absent brainstem auditory responses, Tremor, Uveitis, Photophobia, Widely ... ORPHA:90321
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Ataxia, Abnormality of the dentition, Synophrys, Hirsutism, Gingival o... ORPHA:2026
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Tremor, O... OMIM:613179
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys... ORPHA:300573
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Impaired temperature sensation, Hyperhidrosis, Genu varum, Hepatomegaly, Acne, Abnormal fingernai... ORPHA:2796
48,Xxxy Syndrome
Mandibular prognathia, Pulmonary embolism, Tremor, Gastroesophageal reflux, Chronic otitis media,... ORPHA:96263
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr... OMIM:257850
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... ORPHA:906
Burkitt Lymphoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Infant Botulism
Ptosis, Cerebral palsy, Cardiac arrest, Anorexia, Abdominal pain, Bowel incontinence, Diplopia, X... ORPHA:178478
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Corneal opacity, Corneal dystrophy, Micrognathia, Sparse eyebrow, Cryptorchidism, ... ORPHA:495875
Cohen Syndrome
Decreased response to growth hormone stimulation test, Single transverse palmar crease, Micrognat... OMIM:216550
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Branchial fistula, Abnormal d... ORPHA:861
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Conical tooth, Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG... ORPHA:98813
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Alopecia, Telecanthus, Myopia, Carious teeth, Large fles... OMIM:203550
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Cerebellar vermis hypoplasia, Flat occiput, Partial agenesi... ORPHA:300570
Lowry-Maclean Syndrome
Corneal opacity, Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia... ORPHA:2409
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia OMIM:606764
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... ORPHA:98850
Trichodentoosseous Syndrome
Abnormal hair morphology, Taurodontia, Widely spaced teeth, Microdontia, Fragile nails OMIM:190320
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Dystonia, Ataxia, Portal hypertension, Retinal telangi... OMIM:617341
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Premature graying of hair, Increased circulating IgG level, Conjunctivitis, He... OMIM:256040
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Amblyopia, Cryptorchidism, Pa... OMIM:619797
Mandibular prognathia, Hepatomegaly, Recurrent respiratory infections, Cataract, Corneal opacity,... ORPHA:61
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Thromb... OMIM:617591
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Hyperhidrosis, Photophobia, Leukopenia, Increased circulating IgG ... ORPHA:99827
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Sepsis, Leukopenia, Conjunctivitis, Decreased circulating IgG level, Tricuspid regurgitation, Pat... ORPHA:505248
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Blindness, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA... ORPHA:79078
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Absent septum pellucidum, Bilateral cleft lip, Cleft upper lip, Facial cleft OMIM:601357
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Abnormal bleeding, Mala... ORPHA:79301
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Ataxia, Epistaxis, Abdominal pain, Tremor, ... ORPHA:99745
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma OMIM:120433
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Cerebellar hypoplasia, Hypopla... OMIM:619072
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti... ORPHA:2222
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Diarrhea, Arthritis, T lymphocy... OMIM:601457
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Blindness, Tongue atrophy, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyrami... ORPHA:216873
Intellectual Disability, Birk-Barel Type
Tented upper lip vermilion, Highly arched eyebrow, Micrognathia, High, narrow palate, Incisor mac... ORPHA:166108
Trichothiodystrophy 3, Photosensitive
Natal tooth, Meckel diverticulum, Brittle hair, Cataract, Hearing impairment, Increased circulati... OMIM:616395
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract ORPHA:2528
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Smooth philtrum, Laterally extended eyebrow, Posteriorly rotated ears, Synophrys, Tented philtrum... OMIM:618479
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Synophrys, Microcornea, Downturned corners of mouth, Hig... ORPHA:1327
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia,... OMIM:616740
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Downturned corners of mouth, Clinodactyly of th... ORPHA:353298
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Arboleda-Tham Syndrome
Mandibular prognathia, Cerebral visual impairment, Bilateral cryptorchidism, Anteverted ears, Dow... OMIM:616268
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero... OMIM:235510
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Generalized dystonia, Ataxia, Eczema, Sulfite oxidase deficiency, Ecto... OMIM:272300
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Short thumb, Alopecia OMIM:188150
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectropion ORPHA:411777
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Classic Galactosemia
Sepsis, Vomiting, Lethargy, Male infertility, Hepatomegaly, Premature ovarian insufficiency, Atax... ORPHA:79239
Reynolds Syndrome
Hepatomegaly, Skin rash, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice... ORPHA:779
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Squamous Cell Carcinoma Of The Esophagus
Nausea and vomiting, Feeding difficulties in infancy, Esophageal carcinoma, Lymphadenopathy, Clin... ORPHA:99977
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Blindness, Reduced terminal:vellus ratio, Reduced visual acuity, Sparse hair, Pili torti OMIM:601553
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Rhizomelia, Micrognathia, Sensorineural hearing impairment, Flared metaphysis, Cleft pa... OMIM:215100
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Hypopigmentation of hair, Abnormal size of the palpebral fissures, Mac... ORPHA:3214
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Corneal dystrophy, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Photo... OMIM:308800
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Abnormal thalamic MRI signal intensity, Abnormal cerebral white matte... ORPHA:363717
Dyskeratosis Congenita, X-Linked
Ridged nail, Pterygium of nails, Hyperhidrosis, Premature graying of hair, Leukopenia, Conjunctiv... OMIM:305000
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Sézary Syndrome
Hepatomegaly, Alopecia, Abnormal immunoglobulin level, Tremor, Splenomegaly, Lymphadenopathy, Pal... ORPHA:3162
Coffin-Siris Syndrome 3
Sparse scalp hair, Ptosis, Thick eyebrow, Hearing impairment, Short distal phalanx of the 5th fin... OMIM:614608
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ... OMIM:603909
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Hearing impairmen... OMIM:614669
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Elevated hepatic transaminase, Alopecia, Myopia, Sensorineural hearing impairment, P... OMIM:242150
Spinocerebellar Ataxia With Epilepsy
Cerebral infarct, Progressive neurologic deterioration, Dysmetria, Gait ataxia, Progressive cereb... ORPHA:254881
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Cerebral visual impairment, Feeding diffic... OMIM:115150
Muckle-Wells Syndrome
Maculopapular exanthema, Leukocytosis, Clubbing of fingers, Conjunctivitis, Recurrent aphthous st... OMIM:191900
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Dysesthesia, Congestive heart failure... ORPHA:85446
Crouzon Syndrome
Hearing impairment, Amblyopia, Hypoplasia of the maxilla, Narrow palate, Conjunctivitis, Conducti... ORPHA:207
Vici Syndrome
Albinism, Recurrent viral infections, Micrognathia, Leukopenia, T lymphocytopenia, Abnormal thymu... OMIM:242840
Peroxisome Biogenesis Disorder 5A (Zellweger)
Single transverse palmar crease, Micrognathia, Feeding difficulties in infancy, High palate, Elev... OMIM:614866
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum OMIM:618276
Waldenström Macroglobulinemia
Normocytic anemia, Abnormality of neutrophils, Anorexia, Hepatomegaly, Ataxia, Vertigo, Vasculiti... ORPHA:33226
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Hypoplastic toenails, Low anterior hairline, Downturned corners of mouth, High palate, Triphalang... OMIM:220500
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Hyp... OMIM:602400
Kury-Isidor Syndrome
Finger syndactyly, Alopecia, Tented upper lip vermilion, Brachydactyly, Rocker bottom foot, Proxi... OMIM:619762
Xeroderma Pigmentosum, Complementation Group D
Entropion, Cataract, Ataxia, Keratitis, Sensorineural hearing impairment, Telangiectasia, Choreoa... OMIM:278730
Oculofaciocardiodental Syndrome
Feeding difficulties in infancy, Microcornea, Oligodontia, Fused teeth, Clinodactyly of the 5th f... ORPHA:2712
H Syndrome
Microcytic anemia, Corneal arcus, Alopecia, Psoriasiform dermatitis, Cleft upper lip, Recurrent p... ORPHA:168569
Anorexia, Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic ... ORPHA:810
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr... ORPHA:2863
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Oliver-Mcfarlane Syndrome
Alopecia, Central heterochromia, Hypogonadotropic hypogonadism, Decreased response to growth horm... OMIM:275400
Zika Virus Disease
Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Wrist swelling, Meningitis, Thromboc... ORPHA:448237
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Liver abscess, Tremor, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjun... ORPHA:533
Mcdonough Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Bilateral single transverse palmar crea... ORPHA:2471
Craniofaciofrontodigital Syndrome
Gastrointestinal dysmotility, Low anterior hairline, Gastroesophageal reflux, Finger joint hyperm... ORPHA:363705
Erythermalgia, Primary
Diarrhea, Xerostomia, Hyperhidrosis, Keratoconjunctivitis sicca, Constipation, Palpitations, Blur... OMIM:133020
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Hepatomegaly, Hemolytic anemia, Erythrodontia, Splenomegaly, Jaundice, ... OMIM:263700
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Protruding ear, Sparse hair, Dystrophic fin... ORPHA:3253
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ... ORPHA:189
Kawasaki Disease
Abnormality of nail color, Conjunctivitis, Cholecystitis, Meningitis, Abdominal pain, Recurrent p... ORPHA:2331
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Micrognathia, High palate, Alopecia, Bronchiectasis, Methicillin-resistant Staphylococcus aureus ... OMIM:618282
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Ataxia, Increased circulating ... ORPHA:343
Abnormal dentate nucleus morphology, Caudate atrophy, Abnormal putamen morphology, T2 hypointense... ORPHA:157846
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Uveitis, Conjunctivitis, Vomiting, Abdominal pain, Recurrent pharyngitis, Le... ORPHA:32960
Whipple Disease
Myositis, Myocardial infarction, Anorexia, Abnormal pyramidal sign, Uveitis, Infectious encephali... ORPHA:3452
Omenn Syndrome
Hepatomegaly, Alopecia, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Sh... ORPHA:39041
Roifman Syndrome
Single transverse palmar crease, Downturned corners of mouth, Clinodactyly of the 5th finger, Hep... OMIM:616651
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Eczema, Absent eyelashes, Clef... ORPHA:2890
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Progeria-Short Stature-Pigmented Nevi Syndrome
Selective tooth agenesis, Recurrent viral infections, Microcytic anemia, Micrognathia, T lymphocy... ORPHA:2959
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Epicanthus, Alopecia, Accessory oral frenulum, Osteolysis involving bones of the uppe... ORPHA:88630
Mucopolysaccharidosis Type 3
Adenoiditis, Synophrys, Abnormal pyramidal sign, Atrioventricular block, Coarse hair, Hypertonia,... ORPHA:581
Hypomelanosis Of Ito
Syndactyly, Epicanthus, Alopecia, Cataract, Thick lower lip vermilion, Irregularly spaced teeth, ... OMIM:300337
Snijders Blok-Campeau Syndrome
Speech apraxia, Epicanthus, Cerebral visual impairment, Hypermetropia, Feeding difficulties, Asti... OMIM:618205
Systemic Lupus Erythematosus 17
Lymphopenia, Alopecia, Hypertensive crisis, Autoimmune thrombocytopenia, Raynaud phenomenon, Thro... OMIM:301080
Aarskog-Scott Syndrome
Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodac... ORPHA:915
Cln3 Disease
Blindness, Cataract, Ataxia, Acne, Extrapyramidal muscular rigidity, Amblyopia, Vacuolated lympho... ORPHA:228346
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cataract, Sclerocornea, Microcornea, Microphthalmia, Iris coloboma ORPHA:139471
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Alopecia, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Pr... ORPHA:2251
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Photophobia, Conjunctivitis, Sparse... ORPHA:2273
Adult Syndrome
Sparse scalp hair, Premature loss of permanent teeth, Absent nipple, Fair hair, Eczema, Sparse ax... OMIM:103285
Trichorhinophalangeal Syndrome, Type I
Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Protruding ear, Cone-shaped epiphy... OMIM:190350
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th... ORPHA:81
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Mandibular prognathia, Posteriorly rotated ears, Microcytic anemia, Deep philtrum, Recurrent pneu... OMIM:619750
Cri-Du-Chat Syndrome
Single transverse palmar crease, Feeding difficulties in infancy, Short metatarsal, Orofacial cle... OMIM:123450
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Phot... ORPHA:293381
Hermansky-Pudlak Syndrome
Anorexia, Photophobia, Neutropenia, Iris hypopigmentation, Abnormal bleeding, Myopia, Menometrorr... ORPHA:79430
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
22Q11.2 Deletion Syndrome
Purpura, Impaired T cell function, Abnormal eyelid morphology, Micrognathia, Feeding difficulties... ORPHA:567
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... ORPHA:97286
Fanconi Anemia, Complementation Group S
Epicanthus, Ataxia, Macrodontia, Proximal placement of thumb, Blepharophimosis, Low anterior hair... OMIM:617883
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Attached earlobe, Constriction of peripheral visual field, Incoordination, Micrognathia, Diastema... ORPHA:436245
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Se... OMIM:620317
Biotinidase Deficiency
Alopecia, Skin rash, Ataxia, Scotoma, Recurrent viral infections, Sensorineural hearing impairmen... ORPHA:79241
Erythrokeratodermia Variabilis
Alopecia, Cataract, Corneal opacity, Skin rash, Brachydactyly, Tapered finger, Abnormal hair morp... ORPHA:317
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... ORPHA:293173
Frontonasal Dysplasia 2
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r... OMIM:613451
Meckel Syndrome, Type 8
Microphthalmia, Short nose, Anophthalmia OMIM:613885
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... ORPHA:2889
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Ataxia, Dystonia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, ... ORPHA:71277
Cataract 42
Cataract, Developmental cataract OMIM:115900
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... OMIM:619445
Adams-Oliver Syndrome
Leukopenia, Hypertonia, Absent fingernail, Sparse hair, Finger syndactyly, Alopecia, Portal hyper... ORPHA:974
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Synophrys, Gingiv... ORPHA:2025
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Micrognathia, Tremor, Protruding ear, High palate, Short philtrum, Hepatomegaly,... OMIM:618342
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Impaired T cell function, Poor appetite, Tremor, Splenomegaly, Paronychia, ... OMIM:201100
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Gingivitis... ORPHA:2968
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical... OMIM:613573
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Ectodermal Dysplasia And Immunodeficiency 2
Sparse scalp hair, Hepatomegaly, Recurrent respiratory infections, Anhidrosis, Conical tooth, Spl... OMIM:612132
Lymphedema-Distichiasis Syndrome
Ptosis, Recurrent urinary tract infections, Cataract, Recurrent skin infections, Cleft upper lip,... ORPHA:33001
Inhalational Anthrax
Abnormal sweat gland morphology, Sepsis, Vomiting, Hypotension, Internal hemorrhage ORPHA:247257
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, C... OMIM:603165
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Plagiocephaly, Agenesis of corpus callosum, Hypertelorism ORPHA:459074
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia,... OMIM:304790
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly OMIM:610023
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Hamamy Syndrome
Prolonged QRS complex, Microcytic anemia, Micrognathia, High palate, Sparse hair, Clinodactyly of... OMIM:611174
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Impaired temperature sensation, Hyperhidrosis, Painless fractures due to injury, Prema... ORPHA:642
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Carious teeth, Telangiectasia, Conical incisor, Onycholysis,... OMIM:614564
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Abnormality of the anterior commissure, Fusion of the left and right thal... OMIM:617542
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Aphthous ulcer, Uveitis, Arthritis, Conjunctivitis, Hearing impairment OMIM:120100
Incontinentia Pigmenti
Abnormal hand morphology, Uveitis, Hyperhidrosis, Orofacial cleft, Abnormal toenail morphology, I... ORPHA:464
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... OMIM:606367
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Vomiting, Iritis, Nausea, Hepat... ORPHA:3385
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Aredyld Syndrome
Mandibular prognathia, Hepatomegaly, Smooth philtrum, Craniofacial hyperostosis, Low-set, posteri... ORPHA:1133
Polydactyly, Postaxial, Type A6
Abnormal sweat gland morphology, Postaxial hand polydactyly, Postaxial foot polydactyly, Broad ph... OMIM:615226
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Cerebral atrophy, Abnormal cerebral white matter morphology, Dementia, Focal ... ORPHA:79264
Hypermobile Ehlers-Danlos Syndrome
Osteoarthritis, Abnormality of the gingiva, Gastrointestinal dysmotility, Anorectal anomaly, Ging... ORPHA:285
Skin rash, Nausea, Trismus, Vertigo, Increased circulating IgE level, Diplopia, Central retinal a... ORPHA:863
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Cataract, Rocker bottom foot, Micrognathia, Carious teeth, Cryptorchid... OMIM:214150
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ... ORPHA:397596
Craniosynostosis 3
Hallux valgus, Ptosis, Single transverse palmar crease, Dental malocclusion, Low anterior hairlin... OMIM:615314
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Ataxia, Abnormality of neutrophils, Abnormal eyelash m... ORPHA:381
Momo Syndrome
Delayed eruption of teeth, Epicanthus, Blindness, Underfolded helix, Hyperconvex nail, Thick lowe... OMIM:157980
Temple-Baraitser Syndrome
Tented upper lip vermilion, Hypoplastic thumbnail, Triangular shaped distal phalanx of the thumb,... ORPHA:420561
Microphthalmia ORPHA:35612
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... OMIM:602390
Cinca Syndrome
Nausea and vomiting, Hepatomegaly, Blindness, Purpura, Brachydactyly, Abnormality of neutrophils,... ORPHA:1451
Severe Canavan Disease
Blindness, Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Babinski sign, Feeding... ORPHA:314911
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Epicanthus, Slow-growing hair, Uplifted earlobe, Cerebral visual impairment, Tapered finger, Redu... OMIM:615722
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Xerostomia, Photophobia, Gastroesophageal reflux, Nausea, Alopecia, Abdomina... ORPHA:99921
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arch... OMIM:605282
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Tapered finger, Short finger, Acrocyanosis, Abnormality of the nail OMIM:302000
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attached earlobe, Cataract, Nyctalopia, Dental malocclusion, Upslanted palpebral fissure, Widely ... OMIM:616108
Catifa Syndrome
Delayed eruption of teeth, Epicanthus, Amblyopia, Cleft lip, Cleft palate, Developmental cataract... OMIM:618761
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Epicanthus, Tapered finger, Long fingers, Dental malocclusion, Gait ataxia... OMIM:618292
Scrub Typhus
Abnormal bleeding, Anterior uveitis, Nausea and vomiting, Skin rash, Abdominal pain, Tremor, Myoc... ORPHA:83317
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Sepsis, Tubulointerstitial nephritis, Iron deficiency anemia, Colit... ORPHA:37042
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia ORPHA:26137
Usher Syndrome Type 1
Cataract, Ataxia, Abnormal dental enamel morphology, Scotoma, Visual loss, Sensorineural hearing ... ORPHA:231169
Gaba-Transaminase Deficiency
Lethargy, Retrognathia, Downslanted palpebral fissures, Feeding difficulties OMIM:613163
Monosomy 18P
Epicanthus, Alopecia, Generalized dystonia, Brachydactyly, Micrognathia, Carious teeth, Cleft pal... ORPHA:1598
Usmani-Riazuddin Syndrome, Autosomal Recessive
Epicanthus, Posteriorly rotated ears, Spasticity, High palate, Low-set ears, Conjunctival hyperemia OMIM:619548
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Rubinstein-Taybi Syndrome 1
Dental crowding, Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, High, n... OMIM:180849
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Abnormal basal ganglia morphology OMIM:618646
Ogden Syndrome
Microretrognathia, Everted upper lip vermilion, Torticollis, Broad hallux, Cryptorchidism, High, ... ORPHA:276432
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Brachydactyly, Hypergonadotropic hypogonadism, Split hand, Photophob... ORPHA:2850
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Decreased re... OMIM:307200
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nausea, ... ORPHA:85450
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... ORPHA:424016
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... OMIM:166750
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Abnormalit... ORPHA:2228
Ceroid Lipofuscinosis, Neuronal, 3
Blindness, Cataract, Parkinsonism, Vacuolated lymphocytes, Reduced visual acuity, Concentric hype... OMIM:204200
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Microcephaly, Hypoplasia of the p... ORPHA:370959
Oculocerebrocutaneous Syndrome
Facial cleft, Orofacial cleft, Aplasia/Hypoplasia of the corpus callosum, Wide mouth, Cerebellar ... ORPHA:1647
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... ORPHA:83461
Short Syndrome
Alopecia, Telecanthus, Corneal opacity, Abnormal dental enamel morphology, Poor appetite, Abnorma... ORPHA:3163
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Clonus, Micrognathia, Feeding diffic... ORPHA:534
Pediatric Systemic Lupus Erythematosus
Myositis, Oral ulcer, Leukopenia, Vomiting, Nephritis, Alopecia, Abdominal pain, Raynaud phenomen... ORPHA:93552
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Hypohidrosis With Abnormal Palmar Dermal Ridges
Abnormal palmar dermal ridges, Decreased number of sweat glands, Hypohidrosis OMIM:241120
Gomez-Lopez-Hernandez Syndrome
Alopecia, Bipolar affective disorder, Ataxia, Decreased response to growth hormone stimulation te... OMIM:601853
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Hepatomegaly, Dystonia, Anorexia, Abdominal pain, Splenomegaly, Thrombocytop... ORPHA:79312
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... ORPHA:79456
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... ORPHA:2198
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma ORPHA:1473
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Thin upper lip vermilion, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leu... OMIM:620233
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Thin upper lip vermilion, Myopia, Brachydactyly, Posteriorly rotated ears, Corneal dystrophy, Nyc... OMIM:617763
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas