TaoMedAI/RareMedData huggingface dataset:
Gene: PORCN
Phenotype: Erythema (HP:0010783)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Osteopathia striata (HP:0010740)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Short metatarsal (HP:0010743)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Chiari malformation (HP:0002308)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Abnormality of the pulmonary vasculature (HP:0004930)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Nystagmus (HP:0000639)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Optic atrophy (HP:0000648)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Iris coloboma (HP:0000612)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Short metacarpal (HP:0010049)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Oligodontia (HP:0000677)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Hypodontia (HP:0000668)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Short stature (HP:0004322)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Macule (HP:0012733)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Papilloma (HP:0012740)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Abnormal adipose tissue morphology (HP:0009124)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Short ribs (HP:0000773)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Short ribs (HP:0000773)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Cleft ala nasi (HP:0003191)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Short clavicles (HP:0000894)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Laryngeal papilloma (HP:0033001)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Thin skin (HP:0000963)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Sparse hair (HP:0008070)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Finger aplasia (HP:0009380)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Short finger (HP:0009381)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Alopecia (HP:0001596)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Microcephaly (HP:0000252)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Diastasis recti (HP:0001540)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Diastasis recti (HP:0001540)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Omphalocele (HP:0001539)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Omphalocele (HP:0001539)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Bifid ureter (HP:0030037)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Abnormality of the middle ear (HP:0000370)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Low-set ears (HP:0000369)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Low-set ears (HP:0000369)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Pointed chin (HP:0000307)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Pointed chin (HP:0000307)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Midclavicular hypoplasia (HP:0006608)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Midclavicular aplasia (HP:0006638)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Strabismus (HP:0000486)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Strabismus (HP:0000486)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Foot oligodactyly (HP:0001849)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Anophthalmia (HP:0000528)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Aniridia (HP:0000526)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Split foot (HP:0001839)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Split foot (HP:0001839)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Visual impairment (HP:0000505)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Ridged nail (HP:0001807)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Absent toenail (HP:0001802)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Absent fingernail (HP:0001817)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: GNPNAT1
Phenotype: Large hands (HP:0001176)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Aplasia of the femoral head (HP:0100862)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Wormian bones (HP:0002645)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Distal humeral metaphyseal irregularity (HP:0003951)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Bowed forearm bones (HP:0003956)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Severe short stature (HP:0003510)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Enlarged joints (HP:0003037)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Abnormality of alkaline phosphatase level (HP:0004379)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Contracture of the proximal interphalangeal joint of the 5th finger (HP:0009185)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Squared iliac bones (HP:0003177)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Flaring of rib cage (HP:0000904)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Short humerus (HP:0005792)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Short femur (HP:0003097)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Posterior scalloping of vertebral bodies (HP:0005121)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Wide distal femoral metaphysis (HP:0006387)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Proximal humeral metaphyseal irregularity (HP:0005043)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPNAT1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPNAT1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE (OMIM:619598)
Gene: GNPNAT1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)