TaoMedAI/RareMedData huggingface dataset:
Gene: IFT122
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Rhizomelia (HP:0008905)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Rhizomelia (HP:0008905)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Triphalangeal hallux (HP:0032612)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: High, narrow palate (HP:0002705)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Congenital onset (HP:0003577)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Fine hair (HP:0002213)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: High hypermetropia (HP:0008499)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Renal magnesium wasting (HP:0005567)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Stage 1 chronic kidney disease (HP:0012623)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Nystagmus (HP:0000639)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Nystagmus (HP:0000639)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Taurodontia (HP:0000679)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Anodontia (HP:0000674)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Microdontia (HP:0000691)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Microdontia (HP:0000691)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Hypodontia (HP:0000668)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Hypodontia (HP:0000668)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Narrow chest (HP:0000774)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Narrow chest (HP:0000774)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Short ribs (HP:0000773)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Short humerus (HP:0005792)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Short thorax (HP:0010306)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Abnormal diaphysis morphology (HP:0000940)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Sparse hair (HP:0008070)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Sparse hair (HP:0008070)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Epicanthus (HP:0000286)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Epicanthus (HP:0000286)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Full cheeks (HP:0000293)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Prominent occiput (HP:0000269)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Clinodactyly (HP:0030084)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: High palate (HP:0000218)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Malformation of the hepatic ductal plate (HP:0006563)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Low-set ears (HP:0000369)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: High forehead (HP:0000348)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Short nail (HP:0001799)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Protruding ear (HP:0000411)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Broad toe (HP:0001837)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Telecanthus (HP:0000506)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Short toe (HP:0001831)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Thin nail (HP:0001816)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Myopia (HP:0000545)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Myopia (HP:0000545)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: INAVA
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: INFLAMMATORY BOWEL DISEASE 29 (OMIM:618077)
Gene: INAVA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INFLAMMATORY BOWEL DISEASE 29 (OMIM:618077)
Gene: INAVA
Phenotype: Crohn's disease (HP:0100280)
Associated disease: INFLAMMATORY BOWEL DISEASE 29 (OMIM:618077)
Gene: INAVA
Phenotype: Ulcerative colitis (HP:0100279)
Associated disease: INFLAMMATORY BOWEL DISEASE 29 (OMIM:618077)
Gene: NGLY1
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Poor speech (HP:0002465)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Decreased CSF homovanillic acid concentration (HP:0003785)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Sunken cheeks (HP:0009938)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Poor head control (HP:0002421)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Sclerosis of finger phalanx (HP:0100899)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Tarsal sclerosis (HP:0031051)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Inability to walk (HP:0002540)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Lingual dystonia (HP:0031008)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Chondroitin sulfate excretion in urine (HP:0012070)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Keratan sulfate excretion in urine (HP:0012069)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Impaired oral bolus formation (HP:0031146)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Impaired oral bolus formation (HP:0031146)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Impaired oropharyngeal swallow response (HP:0031162)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Impaired oropharyngeal swallow response (HP:0031162)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Dystonia (HP:0001332)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)