TaoMedAI/RareMedData huggingface dataset:
Gene: PEX5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Strabismus (HP:0000486)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX5
Phenotype: Anteverted nares (HP:0000463)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
Gene: PEX5
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX5
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
Gene: PEX5
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
Gene: PEX5
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX5
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Pes cavus (HP:0001761)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
Gene: PEX5
Phenotype: Flat occiput (HP:0005469)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Cataract (HP:0000518)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Cataract (HP:0000518)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX5
Phenotype: Cataract (HP:0000518)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX5
Phenotype: Cataract (HP:0000518)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Developmental cataract (HP:0000519)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
Gene: PEX5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX5
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Ptosis (HP:0000508)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX5
Phenotype: Visual impairment (HP:0000505)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX5
Phenotype: Visual impairment (HP:0000505)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX5
Phenotype: Visual impairment (HP:0000505)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Glaucoma (HP:0000501)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Prominent forehead (HP:0011220)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
Gene: PEX5
Phenotype: Esotropia (HP:0000565)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
Gene: PEX5
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Prominent ear helix (HP:0009904)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Motor delay (HP:0001270)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Wormian bones (HP:0002645)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Abnormal bone ossification (HP:0011849)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Fine hair (HP:0002213)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Hernia (HP:0100790)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Severe short stature (HP:0003510)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Athetosis (HP:0002305)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Vascular tortuosity (HP:0004948)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Microdontia (HP:0000691)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Third trimester onset (HP:0034197)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Premature sagging cheeks (HP:0034273)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Thin skin (HP:0000963)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Thin skin (HP:0000963)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Thin skin (HP:0000963)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Osteopenia (HP:0000938)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Osteopenia (HP:0000938)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Sparse hair (HP:0008070)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Malar flattening (HP:0000272)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PYCR1
Phenotype: Redundant skin (HP:0001582)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Redundant skin (HP:0001582)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: PYCR1
Phenotype: High palate (HP:0000218)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Gene: PYCR1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PYCR1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Gene: PYCR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)