TaoMedAI/RareMedData huggingface dataset:
Gene: TRNT1
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Anisocytosis (HP:0011273)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRNT1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRNT1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRNT1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRNT1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: IFT52
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Motor delay (HP:0001270)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Rhizomelia (HP:0008905)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Respiratory distress (HP:0002098)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Congenital onset (HP:0003577)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Angel-shaped phalanx (HP:0032078)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: High hypermetropia (HP:0008499)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Short metatarsal (HP:0010743)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Nystagmus (HP:0000639)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Nystagmus (HP:0000639)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Taurodontia (HP:0000679)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Microdontia (HP:0000691)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Carious teeth (HP:0000670)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Hypodontia (HP:0000668)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Narrow chest (HP:0000774)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Narrow chest (HP:0000774)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Short thorax (HP:0010306)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Abnormal diaphysis morphology (HP:0000940)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Sparse hair (HP:0008070)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Epicanthus (HP:0000286)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Full cheeks (HP:0000293)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Prominent occiput (HP:0000269)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: High forehead (HP:0000348)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT52
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Sandal gap (HP:0001852)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Hypermetropia (HP:0000540)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Gene: IFT52
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT52
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT52
Phenotype: Myopia (HP:0000545)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: ABHD5
Phenotype: Microtia (HP:0008551)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: ABHD5
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Areflexia (HP:0001284)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Ataxia (HP:0001251)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: ABHD5
Phenotype: Ataxia (HP:0001251)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: ABHD5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: ABHD5
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: ABHD5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: ABHD5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: ABHD5
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Gene: ABHD5
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Central nervous system degeneration (HP:0007009)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)
Gene: ABHD5
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: NLSDI; Neutral lipid storage disease with ichthyosis; Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome; DCS; CDS (ORPHA:98907)