TaoMedAI/RareMedData huggingface dataset:
Gene: PCNT
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Absent earlobe (HP:0000387)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Straight clavicles (HP:0006587)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Low-set ears (HP:0000369)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Micrognathia (HP:0000347)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Tibial bowing (HP:0002982)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Micromelia (HP:0002983)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Radial bowing (HP:0002986)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Thin clavicles (HP:0006645)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Prominent nose (HP:0000448)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Prominent nose (HP:0000448)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Gene: PCNT
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Sandal gap (HP:0001852)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCNT
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Glaucoma (HP:0000501)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: PCNT
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Gene: PCNT
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCNT
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHMP1A
Phenotype: Poor speech (HP:0002465)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Hypertonia (HP:0001276)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Spasticity (HP:0001257)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Joint stiffness (HP:0001387)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Absent speech (HP:0001344)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Talipes valgus (HP:0004684)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Constipation (HP:0002019)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Dysphagia (HP:0002015)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Gait ataxia (HP:0002066)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Chorea (HP:0002072)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Infantile onset (HP:0003593)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Congenital onset (HP:0003577)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Esodeviation (HP:0020045)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Developmental regression (HP:0002376)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Synophrys (HP:0000664)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Involuntary movements (HP:0004305)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Low-set ears (HP:0000369)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Astigmatism (HP:0000483)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Pes cavus (HP:0001761)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Esotropia (HP:0000565)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: CHMP1A
Phenotype: Myopia (HP:0000545)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
Gene: PCSK1
Phenotype: Polyphagia (HP:0002591)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Cholestasis (HP:0001396)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Reactive hypoglycemia (HP:0012051)
Associated disease: PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
Gene: PCSK1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
Gene: PCSK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
Gene: PCSK1
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Malabsorption (HP:0002024)
Associated disease: PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
Gene: PCSK1
Phenotype: Diarrhea (HP:0002014)
Associated disease: PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
Gene: PCSK1
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
Gene: PCSK1
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Gonadotropin deficiency (HP:0008213)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Red hair (HP:0002297)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Elevated circulating proinsulin concentration (HP:6000419)
Associated disease: PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
Gene: PCSK1
Phenotype: Villous atrophy (HP:0011473)
Associated disease: PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
Gene: PCSK1
Phenotype: Childhood onset (HP:0011463)
Associated disease: PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
Gene: PCSK1
Phenotype: Increased adipose tissue (HP:0009126)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
Gene: PCSK1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
Gene: PCSK1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Growth delay (HP:0001510)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCSK1
Phenotype: Obesity (HP:0001513)
Associated disease: PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
Gene: PCSK1
Phenotype: Obesity (HP:0001513)
Associated disease: PCI deficiency; Obesity due to prohormone convertase I deficiency (ORPHA:71528)
Gene: PCYT1A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCYT1A
Phenotype: Lens subluxation (HP:0001132)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Lens subluxation (HP:0001132)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: PCYT1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Macular atrophy (HP:0007401)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Macular atrophy (HP:0007401)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Gene: PCYT1A
Phenotype: Joint stiffness (HP:0001387)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Hypoplastic inferior ilia (HP:0008821)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Femoral spur (HP:0031171)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Spondylometaphyseal dysplasia (HP:0002657)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Gene: PCYT1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCYT1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PCYT1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCYT1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PCYT1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Gene: PCYT1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Gene: PCYT1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)