TaoMedAI/RareMedData huggingface dataset:
Gene: PCNA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
Gene: PCNA
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Pes cavus (HP:0001761)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNA
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Gene: PCNT
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Aplasia/Hypoplasia of the earlobes (HP:0009906)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Microtia (HP:0008551)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Stroke (HP:0001297)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Seizure (HP:0001250)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines (HP:0007402)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Abnormal female external genitalia morphology (HP:0000055)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Hypospadias (HP:0000047)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Large sella turcica (HP:0002690)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Scoliosis (HP:0002650)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Scoliosis (HP:0002650)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Moyamoya phenomenon (HP:0011834)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Ivory epiphyses (HP:0010583)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Fine hair (HP:0002213)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Truncal obesity (HP:0001956)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Anemia (HP:0001903)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Microdontia (HP:0000691)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Microdontia (HP:0000691)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Short stature (HP:0004322)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Cachexia (HP:0004326)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Metacarpal pseudoepiphysis (HP:0009193)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Narrow chest (HP:0000774)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Slender long bone (HP:0003100)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Long clavicles (HP:0000890)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Precocious puberty (HP:0000826)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Narrow pelvis bone (HP:0003275)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Narrow pelvis bone (HP:0003275)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Distal symphalangism (HP:0100263)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Dry skin (HP:0000958)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Retrognathia (HP:0000278)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Retrognathia (HP:0000278)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Full cheeks (HP:0000293)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Narrow face (HP:0000275)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Proximal femoral epiphysiolysis (HP:0006461)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Coxa vara (HP:0002812)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Coxa vara (HP:0002812)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Microcephaly (HP:0000252)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)