Gene Summary

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

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
increased circulating alkaline phosphatase level Ctnnb1Bfc HET Early adult 4.73×10-05
increased bone mineral content Ctnnb1Bfc HET Early adult 7.21×10-08
increased circulating creatinine level Ctnnb1Bfc HET Early adult 6.55×10-07
abnormal head morphology Ctnnb1Bfc HET Early adult 9.73×10-11
increased bone mineral density Ctnnb1Bfc HET Early adult 1.07×10-13
abnormal startle reflex Ctnnb1Bfc HET Early adult 3.60×10-09
increased startle reflex Ctnnb1Bfc HET Early adult 2.51×10-08
abnormal cranium morphology Ctnnb1Bfc HET   Early adult 7.65×10-06

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 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
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Hereditary nonpolyposis colorectal carcinoma OMIM:613244
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Colorectal polyposis, Large intestinal polyposis, ... ORPHA:247798
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Neoplasm of the rectum, Endometrial carcinoma, Mening... ORPHA:454840
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Neoplasm of the rectum, Endometrial carcinoma, Colorectal polyposis,... ORPHA:447877
Lactose Intolerance, Adult Type
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223100
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Hereditary Mixed Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Prostate cancer, Adenocarcinoma of the ... ORPHA:157794
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Skin rash, Diplopia, Hemolytic anemia, Pericarditis, Dysphagia, Abnormal lymphocyte morphology, T... ORPHA:99867
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Male hypogonadism, Tympanosclerosis, Diarrhea, Chronic oral candidiasis, Femal... OMIM:240300
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Enamel hypoplasia, Cryptorchidism, Carious teeth, Hypertonia, Ridged nail, Neutropenia, Panhypoga... ORPHA:33364
Mixed Connective Tissue Disease
Skin rash, Pericarditis, Xerostomia, Leukopenia, Myocarditis, Pulmonary arterial hypertension, My... ORPHA:809
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Iris coloboma, Bilateral microphthalmos, Anophthalmia OMIM:611638
Agel Amyloidosis
Arrhythmia, Sparse hair, Orthostatic hypotension due to autonomic dysfunction, Lattice corneal dy... ORPHA:85448
Chromosome 1Q21.1 Duplication Syndrome
Hypoplasia of the corpus callosum, Hypertelorism, Frontal bossing OMIM:612475
Rapp-Hodgkin Syndrome
Hypohidrosis, Narrow mouth, Progressive alopecia, Onychogryposis, Hypoplasia of the maxilla, Recu... OMIM:129400
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Trichothiodystrophy 1, Photosensitive
Triangular mouth, Photophobia, Telangiectasia, Fragile nails, Chronic diarrhea, Cataract, Microco... OMIM:601675
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Pneumonia, Anemia, Otit... ORPHA:3392
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Progressive neurologic deterioration, Diffuse swelling of cer... OMIM:613925
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Hypoplasia of teeth, Sparse hair, Macrotia, Woolly hair, Epicanthus, Decreased fertil... OMIM:234050
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Chronic diarrhea, Ileitis, Protein-losing enteropathy, Pancolitis, Gastr... OMIM:619079
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
X-Linked Agammaglobulinemia
Skin rash, Neutropenia, Sensorineural hearing impairment, Anemia, Sinusitis, Abnormality of the t... ORPHA:47
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Limb ataxia, Basal ganglia calcification, Cerebellar calcifications, Ment... OMIM:618824
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Abnormal peristalsis, Chronic diarrhea, Intestinal malrotation... OMIM:615237
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microcephaly, Polymicrogyria, Cortical dysplasia, Microphthalmia OMIM:615771
Jejunal Atresia
Jejunal atresia OMIM:243600
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Bronchiectasis, Recu... OMIM:607594
Ectodermal Dysplasia-Blindness Syndrome
Hypohidrosis, Sparse hair, Abnormality of vision, Abnormality of the dentition, Cataract, Hearing... ORPHA:1806
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Tooth malposition, Sparse hair, Abnormality of dental morphology, Palmoplan... ORPHA:2722
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon... OMIM:240500
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebellar dys... OMIM:604213
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Cleft palate, Cleft upper lip, Broad nasal tip, Bifid nose, Microcephaly, Micrognat... OMIM:239800
Behçet Disease
Pericarditis, Retrobulbar optic neuritis, Optic neuritis, Anorexia, Pulmonary embolism, Cerebral ... ORPHA:117
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Hypodontia, Solitary median maxillary central incisor, Abnormal ora... ORPHA:952
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia, Recurrent skin infections, Lymphadenopathy, Infl... ORPHA:499
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Dementia, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, ... OMIM:618193
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Trigonocephaly 2
Microcephaly, Metopic synostosis, Hypertelorism, Trigonocephaly OMIM:614485
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
48,Xxyy Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Elbow dislocation, B... ORPHA:10
Cockayne Syndrome
Enamel hypoplasia, Cryptorchidism, Carious teeth, Progressive sensorineural hearing impairment, H... ORPHA:191
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Purpura, Gastrointestinal infarctions, Viral hepatitis, Abdominal pa... ORPHA:91138
Microphthalmia, Isolated 3
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Congenital Varicella Syndrome
Cataract, Microcephaly, Microphthalmia, Cerebral cortical atrophy ORPHA:291
Tenorio Syndrome
Macroglossia, Clumsiness, Mandibular prognathia, Gastroesophageal reflux, Gait disturbance, Stoma... OMIM:616260
Supernumerary Nostril
Abnormality of ethmoid sinus, Supernumerary naris, Choanal atresia, Facial cleft ORPHA:141096
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Increased bone mineral density OMIM:166450
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Conjunctivitis, Jaundice, Hepatomegal... OMIM:603552
Lassa Fever
Skin rash, Lethargy, Vertigo, Gastrointestinal hemorrhage, Chemosis, Palpebral edema, Abdominal p... ORPHA:99824
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Rubinstein-Taybi Syndrome 2
Carious teeth, Posterior helix pit, Narrow palate, Broad thumb, Hirsutism, Intestinal malrotation... OMIM:613684
Clouston Syndrome
Small nail, Onycholysis, Palmoplantar hyperkeratosis, Absent pubic hair, Absent axillary hair, Ab... OMIM:129500
Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, Fibroma, Neop... ORPHA:733
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Immunodeficiency, Common Variable, 8, With Autoimmunity
Clubbing of fingers, Bronchiectasis, Thyroiditis, Decreased specific antibody response to vaccina... OMIM:614700
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Iridocyclitis, Autoimmune thrombocytopenia, Anteri... ORPHA:227990
Cockayne Syndrome Type 3
Enamel hypoplasia, Carious teeth, Premature graying of hair, Subdural hemorrhage, Increased blood... ORPHA:90324
Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Abnormality of the nail, Generalized hypopigmentation of hair, Abnormality of denta... ORPHA:238468
Gombo Syndrome
Microcephaly, Microphthalmia OMIM:233270
Isolated Pierre Robin Syndrome
Micrognathia, Glossoptosis, Abnormality of the pharynx, Cleft palate ORPHA:718
Increased bone mineral density OMIM:265880
Holocarboxylase Synthetase Deficiency
Coma, Lethargy, Perioral eczema, Ataxia, Anorexia, Thrombocytopenia, Alopecia, Nausea and vomitin... ORPHA:79242
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Oral leukoplakia, Hypohidrosis, Recurrent corneal erosions, Recurrent bacterial skin infections, ... OMIM:148210
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis, Alopecia, Premat... OMIM:114580
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Narrow palate, Elbow dislocation, Phalangeal dislocation, Long uvula, Sandal gap,... ORPHA:536532
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Sparse hair, Taurodontia, Finger syndactyly, Rhizomelia, Evert... ORPHA:1515
Autoimmune Polyendocrinopathy Type 3
Xerostomia, Leukopenia, Autoimmune hypoparathyroidism, Non-caseating epithelioid cell granulomato... ORPHA:227982
Diarrhea 2, With Microvillus Atrophy
Protracted diarrhea, Villous atrophy, Abnormal intestine morphology OMIM:251850
Oculomaxillofacial Dysostosis
Underdeveloped nasal alae, Abnormality of the nose, Abnormality of the dentition, Wide nasal brid... ORPHA:1794
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Long philtrum, Thin vermilion border, Genu valgum, Metaphyseal irregularity, Mandibular prognathi... OMIM:616007
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cognitive impairment, Cerebellar atrophy, Gait ataxia, Cerebral atrophy OMIM:616192
Ebola Hemorrhagic Fever
Skin rash, Coma, Lethargy, Abnormal bleeding, Gastrointestinal hemorrhage, Chemosis, Abdominal pa... ORPHA:319218
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Chronic diarrhea, Steatorrhea OMIM:613291
Reticulocytosis, Color vision defect, Anemia, Impaired proprioception, Upper motor neuron dysfunc... ORPHA:14
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Increased circulating IgA level, Uveitis, Punctate kera... OMIM:617388
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Folliculitis, Carious teeth, Palmoplantar keratoderma, Scarring alopecia of sc... OMIM:612843
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Glossoptosis, Cleft palate OMIM:261800
Hepatoerythropoietic Porphyria
Abnormal bleeding, Hemolytic anemia, Scleritis, Ectropion, Paresthesia, Seborrhoeic blepharitis, ... ORPHA:95159
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the cerebellum, Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, F... ORPHA:3207
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Patent ductu... ORPHA:2363
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Microphthalmia, Syndromic 12
Microphthalmia, Wide nasal bridge, Anophthalmia OMIM:615524
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Long philtrum, Broad thumb, Sparse hair, Upslanted palpebral fissure, Myopia, Thin upper lip verm... OMIM:617763
Dyskeratosis Congenita
Carious teeth, Premature graying of hair, Anemia, Neoplasm of the pancreas, Aplastic/hypoplastic ... ORPHA:1775
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Abnormal eyelash morphology, Abnormality of the dentition, Sparse scalp hair, Hear... ORPHA:1008
Mucoepithelial Dysplasia, Hereditary
Photophobia, Chronic diarrhea, Coarse hair, Pneumonia, Melena, Nail dysplasia, Cataract, Blindnes... OMIM:158310
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Paronychia, Ataxia, Low alkaline phosphatase, Hepatomegaly, Alopecia of scalp, ... OMIM:201100
Oculodentodigital Dysplasia
Carious teeth, Abnormal dental enamel morphology, Abnormality iris morphology, Mandibular prognat... ORPHA:2710
Congenital Erythropoietic Porphyria
Reticulocytosis, Recurrent bacterial skin infections, Leukopenia, Seborrhoeic blepharitis, Parest... ORPHA:79277
Gordon Holmes Syndrome
Dementia, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:212840
Autosomal Agammaglobulinemia
Skin rash, Osteomyelitis, Bronchiectasis, Chronic otitis media, Epicanthus, Neutropenia, Meningit... ORPHA:33110
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Cockayne Syndrome Type 2
Enamel hypoplasia, Cryptorchidism, Male hypogonadism, Mandibular prognathia, Visual impairment, W... ORPHA:90322
Meckel Syndrome, Type 8
Short nose, Microcephaly, Microphthalmia, Anophthalmia OMIM:613885
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Cronkhite-Canada Syndrome
Anorexia, Diarrhea, Anemia, Hamartomatous polyposis, Hypoplastic toenails, Furrowed tongue, Catar... ORPHA:2930
Nanophthalmos 4
Microphthalmia OMIM:615972
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Cryptorchidism, Sparse eyebrow, Narrow palpebral fissure, Recurrent urinary tr... OMIM:619293
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral cortical atrophy, Decreased th... OMIM:619072
Facial Clefting, Oblique, 1
Facial cleft, Cleft upper lip, Cleft palate OMIM:600251
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Oligodontia, Hypoplastic sweat glands, Abnormality of the nail, Natal tooth, Hypodontia, Sparse s... OMIM:601345
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Decreased corneal sensation, Abnormal hair morphology, Reduced visual acuity, Upslanted palpebral... OMIM:122430
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy, Arthritis OMIM:617772
Mental Retardation, Buenos Aires Type
Carious teeth, Feeding difficulties in infancy, Mandibular prognathia, Myopia, Wide mouth, Long e... OMIM:249630
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea, Microphthalmia ORPHA:2432
Ifap Syndrome 2
Posterior blepharitis, Atrichia, Sparse hair, Angular cheilitis, Cataract, Keratoconjunctivitis s... OMIM:619016
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Horner syndrome, Blepharophimosis, Poliosis, Ataxia, Patchy alopecia, ... OMIM:141300
Peritonitis, Visual loss, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper... ORPHA:2552
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Rectal prolapse, Duodenal adenocarcinoma,... OMIM:174900
Eec Syndrome
Hypohidrosis, Carious teeth, Abnormal dental enamel morphology, Nail pits, Split hand, Coarse hai... ORPHA:1896
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Parc Syndrome
Absent eyelashes, Microretrognathia, Absent eyebrow, Alopecia, Cleft palate OMIM:600331
Diarrhea 7, Protein-Losing Enteropathy Type
Vomiting, Villous atrophy, Diarrhea, Protein-losing enteropathy OMIM:615863
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Atresia of the external auditory canal, Ankyloblepharon, Patent ductus arteriosus, Hypoplasia of ... OMIM:106260
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Cataract, Cortical dysplasia, Agyria, Microcephaly, Subcortical band heterotopia OMIM:615412
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinem... OMIM:612692
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microcephaly, Microphthalmia OMIM:278780
Ectropion, Lymphangiectasis, Keratoconjunctivitis sicca, Keratitis, Eyelid retraction, Recurrent ... ORPHA:182
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Micrognathia, Glossoptosis, Cleft palate OMIM:311895
Hypocomplementemic Urticarial Vasculitis
Skin rash, Small vessel vasculitis, Nausea and vomiting, Abdominal pain, Cerebral palsy, Uveitis,... ORPHA:36412
Frontofacionasal Dysplasia
Short nose, Depressed nasal ridge, Hypoplasia of the corpus callosum, Choanal atresia, Hypoplasia... ORPHA:1791
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Optic neuritis, Xerostomia, Chr... ORPHA:289390
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Dementia, Ataxia, Cerebellar atrophy, Abnormal cerebellum morphology, Diffuse cerebral atrophy, M... OMIM:615362
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Cataract, Microcornea, Microphthalmia, Simplified gyral pattern, Microcephaly OMIM:616171
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic hepati... OMIM:269200
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Cryptorchidism, Narrow mouth, Feeding difficulties, Hyperme... OMIM:615502
Sandhoff Disease
Ataxia, Hepatomegaly, Blindness, Hearing impairment, Congestive heart failure, Splenomegaly, Cher... ORPHA:796
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Abnormal eyebrow morphology, Arrhythm... ORPHA:3220
Alpha-Heavy Chain Disease
Abdominal pain, Hepatomegaly, Dysgammaglobulinemia, Alopecia, Splenomegaly, Anemia, Abnormality o... ORPHA:100025
Visceral Myopathy 2
Megaduodenum, Esophagitis, Hiatus hernia, Dysphagia, Gastroesophageal reflux, Ineffective esophag... OMIM:619350
Renpenning Syndrome
Narrow mouth, Mandibular prognathia, Iris coloboma, Sensorineural hearing impairment, Decreased t... ORPHA:3242
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Long philtrum, Oligodontia, Ectropion, Recurrent otitis media, Smooth philtrum, Wide mouth, Synop... OMIM:602562
Frontonasal Dysplasia 3
Wide nasal bridge, Facial cleft, Underdeveloped nasal alae, Cleft palate OMIM:613456
Muenke Syndrome
Broad thumb, Amblyopia, Thimble-shaped middle phalanges of hand, Sensorineural hearing impairment... OMIM:602849
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Choanal atresia, Cleft palate, Optic nerve hypoplasia, Cleft upper lip, Depressed nasal ridge, Hi... OMIM:607597
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Oculodentodigital Dysplasia
Enamel hypoplasia, 3-4 toe syndactyly, Carious teeth, Tetraparesis, Slow-growing hair, Fragile na... OMIM:164200
Cerebrooculonasal Syndrome
Long philtrum, Abnormality of the nares, Solitary median maxillary central incisor, U-Shaped uppe... ORPHA:66625
Acrofacial Dysostosis, Catania Type
Carious teeth, Short nose, Microretrognathia, Abnormal palate morphology, Smooth philtrum, Abnorm... ORPHA:1786
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Increased circulating lactate dehydrogenase concentr... OMIM:604173
Gómez-López-Hernández Syndrome
Hypertelorism, Midface retrusion, Cerebellar vermis hypoplasia, Ataxia, Abnormal cerebellum morph... ORPHA:1532
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcephaly, Microcornea, Microphthalmia ORPHA:2528
Gm1 Gangliosidosis
Dystonia, Narrow mouth, Abnormality of extrapyramidal motor function, Mandibular prognathia, Hirs... ORPHA:354
Biotinidase Deficiency
Skin rash, Seborrheic dermatitis, Lethargy, Visual loss, Ataxia, Hepatomegaly, Conjunctivitis, Se... OMIM:253260
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Short phalanx of finger, Recurrent mandibular subluxations, Gingival hyperkera... OMIM:225410
Infant Botulism
Diplopia, Drooling, Abdominal pain, Hypotension, Dysphagia, Constipation, Chronic otitis media, H... ORPHA:178478
Hereditary Acrokeratotic Poikiloderma
Open bite, Narrow mouth, Abnormality of the metacarpal bones, Xerostomia, Eczema, Gingivitis, Abn... ORPHA:2907
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Enamel hypoplasia, Malnutrition, Narrow mouth, Spontaneous esophageal perforation, Mitten deformi... OMIM:226600
Anophthalmia Plus Syndrome
Choanal atresia, Bilateral cleft lip and palate, Non-midline cleft lip, Cleft palate, Abnormal na... ORPHA:1104
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Ataxia, Agenesis of permanent teeth, Alopecia OMIM:212835
49,Xxxxy Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Elbow dislocation, M... ORPHA:96264
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Hirsutism, Abnormality of the dentition, Synoph... ORPHA:2026
Smith-Magenis Syndrome
Open mouth, Mandibular prognathia, Micrognathia, Delayed eruption of primary teeth, Upslanted pal... ORPHA:819
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy OMIM:613217
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cryptorchidism, Sparse eyebrow, Hirsutism, Corneal opacity, Broad eyebrow, Visual impairment, Mic... ORPHA:495875
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Zimmermann-Laband Syndrome
Sensorineural hearing impairment, Downslanted palpebral fissures, High palate, Micrognathia, Hall... ORPHA:3473
Cockayne Syndrome Type 1
Enamel hypoplasia, Cryptorchidism, Hypohidrosis, Male hypogonadism, Mandibular prognathia, Diarrh... ORPHA:90321
48,Xxxy Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Elbow dislocation, M... ORPHA:96263
Periodic Fever, Familial, Autosomal Dominant
Skin rash, Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Maculopapular exanthema... OMIM:142680
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Otodental Syndrome
Progressive sensorineural hearing impairment, Carious teeth, Abnormal dental enamel morphology, P... ORPHA:2791
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Cerebellar atrophy, Dysplastic corpus callosum, Ataxia OMIM:618276
Classic Mycosis Fungoides
Skin rash, Abnormality of the nail, Abnormal eyelid morphology, Abnormal lymphocyte morphology, H... ORPHA:2584
Liang-Wang Syndrome
Macroglossia, Dystonia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide ... OMIM:618729
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Pain insensitivity, Anemia, Hyperactivity, Alveolar r... ORPHA:642
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Carious teeth, Myopia, Ataxia, Alopecia of scalp, C... OMIM:136300
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Duodenal diverticula, Ulcerative colitis, Jejunal diverticula OMIM:223320
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Abnormal dental enamel morphology, Hypoplasia of teeth, Narrow mouth, Dent... OMIM:257850
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... ORPHA:1830
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:601457
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia, Axenfeld anomaly OMIM:609218
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypohidrosis, Absent eyebrow, Eczema, Hypoplasia of the maxilla, Concave nail, Abnormal oral muco... OMIM:305100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, Neonatal sepsis, Decreased proportion of CD4-positive helper T cells, Neutropenia,... ORPHA:169154
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Recurrent urinary tract infections, Pneumonia, Tetraparesis, Spastic diple... OMIM:613179
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Dolichocephaly, Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Bronchiectasis, Dacryocystitis, Maculopapular exanthema, Decreased liver function, Leukopenia, An... ORPHA:797
Spinocerebellar Ataxia, Autosomal Recessive 20
Inability to walk, Long philtrum, Macroglossia, Delayed eruption of teeth, Apraxia, Talipes equin... OMIM:616354
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent ductus arteriosus, Tricuspid regurgitation, Hypertrichosis, Leukopenia, Anemia, Pulmonary ... ORPHA:505248
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Abnormality of the nail, Midline notch of upper alveolar ridge,... OMIM:129540
T2 hypointense thalamus, Abnormal caudate nucleus morphology, Chorea, Subcortical dementia, Front... ORPHA:157846
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Giant Cell Arteritis
Visual loss, Diplopia, Pericarditis, Visual field defect, Anorexia, Cerebral ischemia, Visual imp... ORPHA:397
Rift Valley Fever
Coma, Visual loss, Anorexia, Jaundice, Diarrhea, Cardiac arrest, Photophobia, Hemianopia, Abnorma... ORPHA:319251
Muckle-Wells Syndrome
Progressive sensorineural hearing impairment, Skin rash, Camptodactyly of finger, Abdominal pain,... ORPHA:575
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Choanal atresia, Rectovaginal fistula... ORPHA:861
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Feeding difficulties in infancy, Reduced visual acuity, Ectopia lentis, Hyperte... OMIM:616914
Seborrheic dermatitis, Elevated circulating growth hormone concentration, Eczematoid dermatitis, ... ORPHA:2796
Cohen Syndrome
Short metatarsal, Open mouth, Neutropenia, Leukopenia, Visual impairment, Downslanted palpebral f... OMIM:216550
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Lymph node hypoplasia, Recurrent urinary tract infections, Pyoderma, P... OMIM:300755
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Reynolds Syndrome
Skin rash, Cirrhosis, Dysphagia, Gastroesophageal reflux, Telangiectasia of the skin, Hepatomegal... ORPHA:779
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Small bowel diverticula, Jejunoileal ulceration OMIM:221400
Gastrointestinal Stromal Tumor
Dysphagia, Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibromas OMIM:606764
Acrodermatitis Enteropathica
Ridged nail, Ridged fingernail, Anorexia, Visual impairment, Photophobia, Abnormality of the tong... ORPHA:37
Proteasome-Associated Autoinflammatory Syndrome 1
Clubbing of fingers, Premature graying of hair, Elevated circulating thyroid-stimulating hormone ... OMIM:256040
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Nyctalopia, Heterochromia iridis, Low-set, posteriorly rotated ears, Abnormal pala... ORPHA:1390
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Talipes equinovarus, Lethargy, Gait ataxia, Feeding difficulties, Abnormality of... ORPHA:101150
Cach Syndrome
Progressive neurologic deterioration, T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Cereb... ORPHA:135
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Skin rash, Visual loss, Neutropenia, Pneumonia, Anorexia, Xerostomia, Symblepharon, Diarrhea, Ora... ORPHA:95455
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Periodontitis, Congenital alopecia totalis, Alopecia universalis OMIM:104130
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Yao Syndrome
Skin rash, Pericarditis, Abdominal pain, Oral ulcer, Xerostomia, Arthritis, Keratoconjunctivitis ... OMIM:617321
Burkitt Lymphoma
Abnormality of the ovary, Neoplasm of the oral cavity, Gastrointestinal hemorrhage, Abdominal pai... ORPHA:543
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Thick eyebrow, Hearing impairment, Gingi... ORPHA:2222
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Hirsutism, Bilateral sin... OMIM:235510
Trichodentoosseous Syndrome
Taurodontia, Abnormal hair morphology, Microdontia, Widely spaced teeth, Fragile nails OMIM:190320
Open bite, Macroglossia, Narrow palate, Macrotia, Craniofacial hyperostosis, Mandibular prognathi... ORPHA:61
Erythermalgia, Primary
Palpitations, Constipation, Blurred vision, Xerostomia, Keratoconjunctivitis sicca, Hyperhidrosis... OMIM:133020
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia, Microcephaly, A... ORPHA:139471
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Elevated hepatic transaminase, Increased circulating antibody level, Lymphopenia, Pann... OMIM:617591
Nicolaides-Baraitser Syndrome
Cryptorchidism, Thin vermilion border, Abnormality of the metacarpal bones, Sandal gap, Curly eye... ORPHA:3051
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Recurrent bacterial skin infections, Decreased proportion of CD4-positive helper T cel... ORPHA:276
Skin rash, Coma, Lethargy, Tremor, Arrhythmia, Gastrointestinal hemorrhage, Abdominal pain, Hyper... ORPHA:99745
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Long philtrum, Low anterior hairline, Tented philtrum, Gait ataxia, Buphthalmos, Hirsutism, Smoot... OMIM:618479
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Myopia, Cutaneous finger syndactyly, Alop... OMIM:203550
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Short distal phalanx... ORPHA:1327
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Talon cusp, Visual loss, Downturned corners of mouth, Developm... ORPHA:2409
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Cerebellofaciodental Syndrome
Sparse hair, Taurodontia, Macrodontia of permanent maxillary central incisor, Low-set ears, Spars... OMIM:616202
Dyskeratosis Congenita, X-Linked
Cryptorchidism, Carious teeth, Premature graying of hair, Pterygium of nails, Ridged nail, Pancyt... OMIM:305000
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Short philtrum, Hypopigmentation of hair, Iris hypopigmentation, Tauro... ORPHA:3214
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Xeroderma Pigmentosum, Complementation Group D
Ectropion, Ataxia, Conjunctivitis, Cataract, Keratoconjunctivitis sicca, Keratitis, Sensorineural... OMIM:278730
Roifman Syndrome
Downturned corners of mouth, Prominent eyelashes, Bilateral single transverse palmar creases, Ecz... ORPHA:353298
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Cirrhosis, Nyctalopia, Elevated hepatic transaminase, Gastrointestinal hemorrh... ORPHA:79301
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Intellectual Disability, Birk-Barel Type
Highly arched eyebrow, Short philtrum, Nasogastric tube feeding, Open mouth, Broad philtrum, Cong... ORPHA:166108
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Abnormality of the nail, Ectropion, Palmoplantar keratoderma, Scarring alopecia of ... OMIM:308800
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... ORPHA:500166
Alopecia Universalis
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow ORPHA:701
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Alopecia, Short thumb OMIM:188150
Cri-Du-Chat Syndrome
Cryptorchidism, Short metatarsal, Downturned corners of mouth, Premature graying of hair, Hyperto... OMIM:123450
Aggressive Systemic Mastocytosis
Neutropenia, Maculopapular exanthema, Anorexia, Pancytopenia, Decreased liver function, Diarrhea,... ORPHA:98850
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Mucopolysaccharidosis Type 3
Hypertonia, Hirsutism, Coarse hair, Corneal opacity, Progressive inability to walk, Sensorineural... ORPHA:581
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Recurr... OMIM:618495
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Sinusitis, Eczema, Acute leukemia... ORPHA:906
Generalized Eruptive Keratoacanthoma
Ectropion, Dysphagia, Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Peritonitis, Visual loss, Pericarditis, Pneumonia, Jaundice, Diarrhea, Myocarditis, Vomiting, Spo... ORPHA:533
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:269400
African Trypanosomiasis
Coma, Diplopia, Pericarditis, Reduced consciousness/confusion, Optic neuritis, Jaundice, Diarrhea... ORPHA:3385
Rhizomelic Chondrodysplasia Punctata, Type 1
Developmental cataract, Rhizomelia, Upslanted palpebral fissure, Sensorineural hearing impairment... OMIM:215100
Coffin-Siris Syndrome 3
Macroglossia, Sparse hair, Feeding difficulties, Aplasia/Hypoplasia of the distal phalanges of th... OMIM:614608
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Facial cleft, Bilateral cleft lip and palate, Cleft upper lip, Absent septum pellucidum OMIM:601357
Waldenström Macroglobulinemia
Reduced consciousness/confusion, Anorexia, Diarrhea, Lymphadenopathy, Vertigo, Purpura, Epistaxis... ORPHA:33226
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microphthalmia, Anophthalmia OMIM:164180
Spastic Ataxia 3, Autosomal Recessive
Gait ataxia, Spastic ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Leukoencephalopathy, ... OMIM:611390
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Reduced visual acuity, Blindness, Pili torti OMIM:601553
Antisynthetase Syndrome
Skin rash, Aortic regurgitation, Dysphagia, Telangiectasia of the skin, Xerostomia, Keratoconjunc... ORPHA:81
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:608971
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Type II lissencephaly, Spastic ataxia, Hypoplasia of the corpus callosum, Cerebellar vermis hypop... ORPHA:300570
H Syndrome
Bronchiectasis, Camptodactyly, Histiocytosis, Hypertrichosis, Decreased testicular size, Hallux v... ORPHA:168569
Aarskog-Scott Syndrome
Cryptorchidism, Short palm, Oral cleft, Megalocornea, Downslanted palpebral fissures, Hypoplasia ... ORPHA:915
Cardiofaciocutaneous Syndrome 1
Open bite, Open mouth, Palpebral thickening, Hypertonia, Absent eyebrow, Slow-growing hair, Cereb... OMIM:115150
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Cryptorchidism, Camptodactyly of finger, Abnormality of the philtrum, ... ORPHA:2863
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Clinodactyly of the 5th toe, Nausea and vomiting, Feeding difficulties in i... ORPHA:99977
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestinal hemorrhag... ORPHA:44890
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Hypertelorism, Arnold-Chiari type I malformation, Agenesis of corpus callosum, Plagiocephaly ORPHA:459074
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Glossoptosis, Mandibular... OMIM:614669
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Reduced visual acuity, Sclerosing cholangitis, Angular cheilitis, Hepatomegaly, Xerostomia, Jaund... OMIM:260480
Lujo Hemorrhagic Fever
Skin rash, Coma, Lethargy, Gastrointestinal hemorrhage, Acute hepatic failure, Diarrhea, Cardiac ... ORPHA:319213
Crouzon Disease
Narrow palate, Narrow internal auditory canal, Conductive hearing impairment, Iris coloboma, Ambl... ORPHA:207
Wild Type Abeta2M Amyloidosis
Macroglossia, Arrhythmia, Paresthesia, Gastrointestinal hemorrhage, Dysesthesia, Dysphagia, Tetra... ORPHA:85446
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia OMIM:615877
Cryptorchidism, Dystonia, Abnormality of extrapyramidal motor function, Speech apraxia, Jaundice,... ORPHA:352
Oliver-Mcfarlane Syndrome
Cryptorchidism, Central heterochromia, Sparse hair, Long eyelashes, Alopecia, Hypogonadotropic hy... OMIM:275400
Peritonitis, Pneumonia, Anorexia, Hypovolemic shock, Myocarditis, Vomiting, Bloody diarrhea, Para... ORPHA:810
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Lymphadenopathy, Iron defi... OMIM:603909
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Gait ataxia, Dementia, Cerebral atrophy, Ataxia, Cerebellar atrophy, Mot... ORPHA:1947
Classic Galactosemia
Cryptorchidism, Dystonia, Clumsiness, Speech apraxia, Jaundice, Secondary amenorrhea, Diarrhea, V... ORPHA:79239
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Oculofaciocardiodental Syndrome
Oligodontia, Intestinal malrotation, Patent ductus arteriosus, Iris coloboma, Flexion contracture... ORPHA:2712
Sézary Syndrome
Tremor, Ectropion, Palmoplantar keratoderma, Erythroderma, Abnormal lymphocyte morphology, Lympha... ORPHA:3162
Progeria-Short Stature-Pigmented Nevi Syndrome
Progressive sensorineural hearing impairment, Short distal phalanx of finger, Episodic vomiting, ... ORPHA:2959
Inhalational Anthrax
Abnormal sweat gland morphology, Internal hemorrhage, Hypotension, Confusion, Vomiting, Sepsis ORPHA:247257
Peritonitis, Visual loss, Diplopia, Pericarditis, Ileitis, Neutropenia, Melena, Diarrhea, Sinusit... ORPHA:73263
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Dementia, Abno... ORPHA:79264
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Acrocyanosis, Gastrointestinal hemorrhage, Purpura, Abdominal pain, Ataxia, Hepatome... ORPHA:343
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Carious teeth, Hypodontia, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers... OMIM:612079
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Microphthalmia OMIM:120433
Mcdonough Syndrome
Open bite, Cryptorchidism, Short philtrum, Macrotia, Low-set, posteriorly rotated ears, Mandibula... ORPHA:2471
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Microphthalmia OMIM:616570
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Dysphagia, Gait disturbance, Chorea, Spasticity, Ab... ORPHA:216873
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Roifman Syndrome
Downturned corners of mouth, Prominent eyelashes, Downslanted palpebral fissures, Eczema, Short d... OMIM:616651
Muckle-Wells Syndrome
Progressive sensorineural hearing impairment, Clubbing of fingers, Leukocytosis, Maculopapular ex... OMIM:191900
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypohidrosis, Carious teeth, Abnormal dental enamel morphology, Bilateral single transverse palma... ORPHA:3253
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Absent hippocampal ... OMIM:617542
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Narrow palate, Short metatarsal, Leukonychia, Slow-growing hair, Ivory epiphyses o... OMIM:190350
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Abnormality of the dentition, Recurren... OMIM:618282
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Sparse hair, Taurodontia OMIM:272980
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Developmental cataract, Tooth malposition, Gait disturb... OMIM:618761
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Neutropenia, Menometrorrhagia, Anorexia, Amblyopia, Visual imp... ORPHA:79430
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Micro... OMIM:612109
Auriculocondylar Syndrome 3
Laryngeal cleft, Glossoptosis, Bifid uvula, Retrognathia, Micrognathia OMIM:615706
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Cutaneous syndactyly, Absent eyelashes, Palmoplantar keratoderma, Absent eyebrow... ORPHA:2890
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Hypohidrosis, Absent eyebrow, Corneal opacity,... ORPHA:2273
Vici Syndrome
Albinism, Abnormal posturing, Decreased proportion of CD4-positive helper T cells, Decreased T ce... OMIM:242840
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ch... OMIM:616740
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Abnormal motor neuron morphology, Leukoencephalopathy OMIM:613724
Chronic Graft Versus Host Disease
Bronchiectasis, Urinary bladder inflammation, Abnormal esophagus morphology, Anorexia, Pancytopen... ORPHA:99921
Multiple Carboxylase Deficiency
Skin rash, Coma, Lethargy, Spastic paraparesis, Feeding difficulties, Scotoma, Ataxia, Hearing im... ORPHA:148
Adult Syndrome
Oligodontia, Nail pits, Absent nipple, Toe syndactyly, Breast hypoplasia, Split hand, Premature l... OMIM:103285
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Hypoplastic toenail... ORPHA:2325
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Incoordination, Macrotia, Upslanted palpebral fissure, Diastema, Poor fine motor coordination, Pr... ORPHA:436245
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Dysphagia, Paraganglioma, Intestinal ... ORPHA:97286
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Developmental cataract, Type II lissencephaly, Microphthalmia ORPHA:324416
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Mcdonough Syndrome
Cryptorchidism, Short philtrum, Hypoplastic toenails, Sparse hair, Mandibular prognathia, Upslant... OMIM:248950
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pericarditis, Erysipelas, Diarrhea, Vomiting, Myositis, Lymphadenopathy, ... ORPHA:32960
Cofs Syndrome
Wide nasal bridge, Cataract, Cerebral cortical atrophy, Cerebral calcification, Microphthalmia, M... ORPHA:1466
Porphyria, Congenital Erythropoietic
Abnormality of the mouth, Hemolytic anemia, Absent eyebrow, Cholelithiasis, Thrombocytopenia, Con... OMIM:263700
Hypomelanosis Of Ito
Hand polydactyly, Irregularly spaced teeth, Epicanthus, Iris coloboma, Radial deviation of finger... OMIM:300337
Pili Torti
Abnormal dental enamel morphology, Abnormal eyebrow morphology, Abnormality of the nail, Abnormal... ORPHA:2889
Omenn Syndrome
Short toe, Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Chronic diarr... ORPHA:39041
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hypohidrosis, Short philtrum, Hypoplastic sweat glands, Natal tooth, Acne inversa, Nail dystrophy OMIM:617337
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Positive Romberg sign, Memory impairment, Gait ataxia, Impaired vibratory sensation, Abnormal tha... ORPHA:70595
Whipple Disease
Pericarditis, Anorexia, Diarrhea, Anemia, Myocarditis, Myositis, Abnormal pyramidal sign, Uveitis... ORPHA:3452
Lymphedema-Distichiasis Syndrome
Arrhythmia, Ectropion, Corneal erosion, Recurrent urinary tract infections, Patent ductus arterio... ORPHA:33001
Craniosynostosis 6
Craniosynostosis, Hypertelorism, Plagiocephaly, Abnormal corpus callosum morphology, Cerebellar a... OMIM:616602
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Palmar hype... OMIM:613573
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Optic nerve hypoplasia, Microphthalmia, Anoph... OMIM:610125
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar... OMIM:228560
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Onychogryposis of fingernail, Sparse hair, Abnormality of dental morphol... ORPHA:2251
Arboleda-Tham Syndrome
Small earlobe, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Sparse medial ey... OMIM:616268
Apolipoprotein A-I Deficiency
Corneal opacity, Blurred vision, Hemiplegia/hemiparesis, Anemia, Splenomegaly, Abnormality of the... ORPHA:425
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Apraxia, Chorea, Hypertonia, Abnormal erythrocyte morphology, Ataxia, Hemipar... ORPHA:71277
Incontinentia Pigmenti
Skin rash, Abnormal dental enamel morphology, Absent hand, Ridged fingernail, Corneal opacity, Or... ORPHA:464
Vascular Hyalinosis
Protein-losing enteropathy, Malabsorption, Diarrhea, Hematochezia OMIM:277175
Biotinidase Deficiency
Skin rash, Nonprogressive visual loss, Lethargy, Recurrent fungal infections, Spastic paraparesis... ORPHA:79241
Kid Syndrome
Cryptorchidism, Carious teeth, Hypohidrosis, Recurrent bacterial skin infections, Sensorineural h... ORPHA:477
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Cirrhosis, Erythroderma, Myopia, Conjunctivitis, Sensorineural hearing impairment, A... OMIM:242150
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth, Cortical subperiosteal resorption of humeral metaph... ORPHA:94089
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Blurred visio... ORPHA:293381
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Perifolliculitis, Alopecia OMIM:260910
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B... ORPHA:79302
Phelan-Mcdermid Syndrome
Hypohidrosis, Patent ductus arteriosus, Episodic vomiting, Cerebral visual impairment, High palat... OMIM:606232
Pyruvate Dehydrogenase E1-Alpha Deficiency
Long philtrum, Dystonia, Episodic ataxia, Lethargy, Ptosis, Choreoathetosis OMIM:312170
Scrub Typhus
Skin rash, Tremor, Lethargy, Abnormal bleeding, Abdominal pain, Hypotension, Reduced consciousnes... ORPHA:83317
Dermatitis, Atopic
Keratoconus, Atopic dermatitis, Allergic rhinitis, Conjunctivitis, Cataract, Eczema, Recurrent sk... OMIM:603165
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... ORPHA:331235
Cognitive impairment, Hypertelorism, Abnormal lateral ventricle morphology ORPHA:324422
Hermansky-Pudlak Syndrome 2
Carious teeth, Albinism, Neutropenia, Recurrent abscess formation, Photophobia, Reduced natural k... OMIM:608233
Adams-Oliver Syndrome
Absent hand, Split hand, Hypertonia, Abnormality of the metacarpal bones, Short distal phalanx of... ORPHA:974
Deafness-Craniofacial Syndrome
Short lingual frenulum, Hearing impairment, Alopecia OMIM:125230
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacifi... ORPHA:2334
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Thyroiditis, Eczema, Lymphadenopathy, T ly... OMIM:606367
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis, Patchy alopecia OMIM:104000
Alopecia-Intellectual Disability Syndrome
Macrotia, Hypergonadotropic hypogonadism, Split hand, Sparse scalp hair, Hearing impairment, Alop... ORPHA:2850
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Bilateral microphthalmos OMIM:608763
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Choanal stenosis, Micrognathia, Malar flattening, Hypoplasia of the maxilla OMIM:241310
Severe Canavan Disease
Inability to walk, Lethargy, Nasogastric tube feeding, Feeding difficulties, Gastroesophageal ref... ORPHA:314911
Skin rash, Diplopia, Reduced consciousness/confusion, Central retinal artery occlusion, Tinnitus,... ORPHA:863
Hypohidrosis, Autoamputation of digits, Abnormality of facial skeleton, Paralytic lagophthalmos, ... ORPHA:548
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Bi... OMIM:605282
Gabriele-De Vries Syndrome
Cryptorchidism, Dystonia, Tremor, Feeding difficulties, Abnormality of the dentition, Abnormality... OMIM:617557
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Griscelli Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neu... ORPHA:381
Pediatric Systemic Lupus Erythematosus
Skin rash, Reduced consciousness/confusion, Discoid lupus rash, Diarrhea, Leukopenia, Vomiting, M... ORPHA:93552
Cinca Syndrome
Purpura, Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Retrobulbar o... ORPHA:1451
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma, Microphthalmia OMIM:212550
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Aplasia/Hypoplasia of the eyebrow, Craniofacial ... ORPHA:1133
Monosomy 18P
Carious teeth, Short philtrum, Tooth malposition, Low posterior hairline, Downturned corners of m... ORPHA:1598
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Cryptorchidism, Broad thumb, Dental crowding, Conductive hearing impairment, Upsla... OMIM:616331
Erythrokeratodermia Variabilis
Skin rash, Abnormality of the nail, Patchy palmoplantar hyperkeratosis, Abnormal hair morphology,... ORPHA:317
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Iris coloboma, Microphthalmia OMIM:610023
Dermatoosteolysis, Kirghizian Type
Oligodontia, Split hand, Nail dysplasia, Blindness, Keratitis, Joint contracture of the hand, Nai... OMIM:221810
Ogden Syndrome
Cardiogenic shock, Cryptorchidism, Lethargy, Arrhythmia, Macrotia, Microretrognathia, Hypertonia,... ORPHA:276432
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Congenital alopecia totalis, Fingernail dysplasia, Palmoplantar hyperke... ORPHA:1010
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormality of the nail, Hypoplastic toenails, Agenesis of permanent t... ORPHA:2228
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Downturned corners of mouth, Open mouth, Patent ductus arteriosus, Short distal phalanx of finger... OMIM:220500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Pachygyria, Cerebral atrophy, Cataract, Microphthalmia, Simplified gyral pattern, Microcephaly OMIM:251270
Mucolipidosis Iv
Progressive neurologic deterioration, Cerebral dysmyelination, Dysplastic corpus callosum, Cerebe... OMIM:252650
Stevens-Johnson Syndrome
Diarrhea, Anemia, Entropion, Visual impairment, Photophobia, Excessive salivation, Acute hepatic ... ORPHA:36426
Chediak-Higashi Syndrome
Recurrent systemic pyogenic infections, Recurrent bacterial skin infections, Neutropenia, Jaundic... OMIM:214500
Microcephaly 17, Primary, Autosomal Recessive
Hypertelorism, Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Microlissencephaly,... OMIM:617090
Dubowitz Syndrome
Cryptorchidism, Carious teeth, Iris coloboma, Megalocornea, Episodic vomiting, Hyperactivity, Hig... OMIM:223370
22Q11.2 Deletion Syndrome
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Seborrheic dermatitis, Narrow m... ORPHA:567
Fanconi Anemia, Complementation Group S
Low anterior hairline, Narrow palate, Ovarian neoplasm, Sparse hair, Blepharophimosis, Upslanted ... OMIM:617883
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Pancreas, Annular
Duodenal stenosis, High intestinal obstruction OMIM:167750
Annular Pancreas
Duodenal stenosis, High intestinal obstruction ORPHA:675
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent bronchitis, Decreased CD69 upreg... OMIM:300853
Dyskeratosis Congenita, Autosomal Recessive 6
Carious teeth, Sparse hair, Ataxia, Alopecia, Nail dystrophy OMIM:616353
Short Syndrome
Abnormal pupil morphology, Poor appetite, Abnormal dental enamel morphology, Sparse hair, Short p... ORPHA:3163
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Constipation, Villous atrophy, Aganglionic megacolon, Steatorrhea, ... ORPHA:95427
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Abnormality of extrapyramidal motor function, Concentric hypertrophic car... OMIM:204200
Hallermann-Streiff Syndrome
Cryptorchidism, Thin vermilion border, Narrow palate, Narrow mouth, Natal tooth, Iris coloboma, H... OMIM:234100
Isolated Arrhinia
Absent nasal septal cartilage, Aplasia/Hypoplasia of the nasal septum, Hypoplasia of the nasal bo... ORPHA:1134
Hemochromatosis, Type 2A
Infertility, Cirrhosis, Lethargy, Azoospermia, Dilated cardiomyopathy, Arrhythmia, Amenorrhea, He... OMIM:602390
Kawasaki Disease
Skin rash, Pericarditis, Jaundice, Diarrhea, Myocarditis, Cervical lymphadenopathy, Glossitis, Ch... ORPHA:2331
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Sparse eyebrow, Hypoplasia of teeth, Premature graying of hair, Overfolded helix,... OMIM:268400
Helsmoortel-Van Der Aa Syndrome
Narrow palpebral fissure, Visual impairment, Hyperactivity, Eyelid coloboma, Downslanted palpebra... OMIM:615873
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Hyperconvex nail, Smooth philtrum, Epicant... OMIM:157980
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Speech apraxia, Impaired proprioception, Rigidity, Postural tremor, Head tremor, Oculomotor aprax... ORPHA:412057
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Wide mouth, Oral cleft, Polymic... ORPHA:1647
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Elbow dislocation, Gingivitis, Osteoarthritis, Acrocyanosis, Vertigo, Paresthesia, C... ORPHA:285
Lymphedema-Distichiasis Syndrome
Yellow nails, Arrhythmia, Patent ductus arteriosus, Conjunctivitis, Cleft palate, Ptosis, Distich... OMIM:153400