TaoMedAI/RareMedData huggingface dataset:
Gene: KITLG
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: WAARDENBURG SYNDROME, TYPE 2F (OMIM:619947)
Gene: KITLG
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: KITLG
Phenotype: Blue irides (HP:0000635)
Associated disease: WAARDENBURG SYNDROME, TYPE 2F (OMIM:619947)
Gene: KITLG
Phenotype: White hair (HP:0011364)
Associated disease: WAARDENBURG SYNDROME, TYPE 2F (OMIM:619947)
Gene: KITLG
Phenotype: Abnormality of the pulmonary artery (HP:0004414)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: KITLG
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE (OMIM:145250)
Gene: KITLG
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: WAARDENBURG SYNDROME, TYPE 2F (OMIM:619947)
Gene: KITLG
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE (OMIM:145250)
Gene: KITLG
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: KITLG
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 69 (OMIM:616697)
Gene: KITLG
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: KITLG
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WAARDENBURG SYNDROME, TYPE 2F (OMIM:619947)
Gene: KITLG
Phenotype: Telecanthus (HP:0000506)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: KITLG
Phenotype: Telecanthus (HP:0000506)
Associated disease: WAARDENBURG SYNDROME, TYPE 2F (OMIM:619947)
Gene: KITLG
Phenotype: Ptosis (HP:0000508)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: MGMT
Phenotype: Nevus (HP:0003764)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MGMT
Phenotype: Freckling (HP:0001480)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MGMT
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MGMT
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MGMT
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MGMT
Phenotype: Dry skin (HP:0000958)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MGMT
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MGMT
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MGMT
Phenotype: Melanoma (HP:0002861)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MGMT
Phenotype: Retinopathy (HP:0000488)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MGMT
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MGP
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Seizure (HP:0001250)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Seizure (HP:0001250)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Shortening of all distal phalanges of the fingers (HP:0006118)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Cartilaginous ossification of larynx (HP:0008747)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Premature fusion of phalangeal epiphyses (HP:0006140)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Tracheal calcification (HP:0002787)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Deep philtrum (HP:0002002)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Emphysema (HP:0002097)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Calcification of cartilage (HP:0100593)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Tracheal atresia (HP:0100682)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Short thumb (HP:0009778)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Pulmonary artery hypoplasia (HP:0004971)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Short stature (HP:0004322)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Short hallux (HP:0010109)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Hypertension (HP:0000822)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Alopecia (HP:0001596)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Long face (HP:0000276)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Long face (HP:0000276)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Malar flattening (HP:0000272)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Calcification of the auricular cartilage (HP:0005103)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Sinusitis (HP:0000246)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Growth abnormality (HP:0001507)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Miscarriage (HP:0005268)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Airway obstruction (HP:0006536)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Costal cartilage calcification (HP:0006646)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Macrotia (HP:0000400)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Cartilaginous ossification of nose (HP:0005275)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Wide nose (HP:0000445)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: KEUTEL SYNDROME (OMIM:245150)
Gene: MGP
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Gene: MGP
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MGP
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MGP
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CIITA
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Colitis (HP:0002583)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Dysarthria (HP:0001260)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Decreased circulating beta-2-microglobulin level (HP:0025347)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Rheumatoid arthritis (HP:0001370)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CIITA
Phenotype: Joint swelling (HP:0001386)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CIITA
Phenotype: Joint stiffness (HP:0001387)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CIITA
Phenotype: Swan neck-like deformities of the fingers (HP:0006150)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CIITA
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Vasculitis (HP:0002633)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CIITA
Phenotype: Interphalangeal joint erosions (HP:0006252)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: CIITA
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)
Gene: CIITA
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: MHC class II deficiency; Bare lymphocyte syndrome type 2; Immunodeficiency by defective expression of MHC class II (ORPHA:572)
Gene: CIITA
Phenotype: Malabsorption (HP:0002024)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE II (OMIM:209920)