TaoMedAI/RareMedData huggingface dataset:
Gene: POLR1A
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Low-set ears (HP:0000369)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: POLR1A
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Broad forehead (HP:0000337)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Micrognathia (HP:0000347)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Femoral bowing (HP:0002980)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: POLR1A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Flared lower limb metaphysis (HP:0030307)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Macrotia (HP:0000400)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Strabismus (HP:0000486)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Infantile spasms (HP:0012469)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: POLR1A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Choanal atresia (HP:0000453)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: POLR1A
Phenotype: Pes cavus (HP:0001761)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: POLR1A
Phenotype: Cataract (HP:0000518)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Ptosis (HP:0000508)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: POLR1A
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Ablepharon (HP:0011224)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Microtia (HP:0008551)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Waddling gait (HP:0002515)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Developmental regression (HP:0002376)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Small hand (HP:0200055)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Short metatarsal (HP:0010743)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Low hanging columella (HP:0009765)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Hypoplastic sacrum (HP:0004590)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Osteopenia (HP:0000938)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Sparse hair (HP:0008070)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Long face (HP:0000276)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Clinodactyly (HP:0030084)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Growth delay (HP:0001510)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Long philtrum (HP:0000343)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: High forehead (HP:0000348)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Triangular face (HP:0000325)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Pointed chin (HP:0000307)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Small nail (HP:0001792)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Short foot (HP:0001773)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Prominent nose (HP:0000448)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POC1A
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POC1A
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (OMIM:614813)
Gene: POC1A
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)