TaoMedAI/RareMedData huggingface dataset:
Gene: ABCA12
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ABCA12
Phenotype: Short finger (HP:0009381)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (OMIM:242500)
Gene: ABCA12
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ABCA12
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Alopecia (HP:0001596)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ABCA12
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (OMIM:242500)
Gene: ABCA12
Phenotype: Death in infancy (HP:0001522)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (OMIM:242500)
Gene: ABCA12
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (OMIM:242500)
Gene: ABCA12
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ABCA12
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ABCA12
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ABCA12
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Premature birth (HP:0001622)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (OMIM:242500)
Gene: ABCA12
Phenotype: Eclabion (HP:0012472)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Keratitis (HP:0000491)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ABCA12
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Cataract (HP:0000518)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Proptosis (HP:0000520)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (OMIM:242500)
Gene: ABCA12
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: Autosomal congenital ichthyosis, Harlequin type; Ichthyosis congenita, Harlequin type; Harlequin ichthyosis; HI (ORPHA:457)
Gene: ABCA12
Phenotype: Leukonychia (HP:0001820)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A (OMIM:601277)
Gene: IFT172
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT172
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT172
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Gene: IFT172
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Gene: IFT172
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT172
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT172
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Gene: IFT172
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Gene: IFT172
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Gene: IFT172
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT172
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT172
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Proteinuria (HP:0000093)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Gene: IFT172
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Cholestasis (HP:0001396)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Hepatic failure (HP:0001399)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT172
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Hemeralopia (HP:0012047)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Gene: IFT172
Phenotype: Micropenis (HP:0000054)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Gene: IFT172
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Gene: IFT172
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT172
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT172
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 71 (OMIM:616394)
Gene: IFT172
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Gene: IFT172
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT172
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT172
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Scoliosis (HP:0002650)
Associated disease: RETINITIS PIGMENTOSA 71 (OMIM:616394)
Gene: IFT172
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT172
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT172
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT172
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT172
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT172
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Nephropathy (HP:0000112)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT172
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Gene: IFT172
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Asthma (HP:0002099)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Gene: IFT172
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT172
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT172
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Gene: IFT172
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Papilledema (HP:0001085)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Gene: IFT172
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT172
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Gene: IFT172
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT172
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT172
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT172
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT172
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT172
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT172
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT172
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT172
Phenotype: Nyctalopia (HP:0000662)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:619471)
Gene: IFT172
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT172
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 71 (OMIM:616394)
Gene: IFT172
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT172
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT172
Phenotype: Short stature (HP:0004322)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: IFT172
Phenotype: Perifoveal ring of hyperautofluorescence (HP:0030629)
Associated disease: RETINITIS PIGMENTOSA 71 (OMIM:616394)
Gene: IFT172
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT172
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Short long bone (HP:0003026)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (OMIM:615630)
Gene: IFT172
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT172
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)