TaoMedAI/RareMedData huggingface dataset:
Gene: PHGDH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Gene: PHGDH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Cleft palate (HP:0000175)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Bifid uterus (HP:0000136)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Hypogonadism (HP:0000135)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Small placenta (HP:0006266)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Renal agenesis (HP:0000104)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Swollen lip (HP:0031244)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Vomiting (HP:0002013)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Choroid plexus cyst (HP:0002190)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Reduced 3-phosphoglycerate dehydrogenase activity (HP:0034691)
Associated disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Gene: PHGDH
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Pterygium (HP:0001059)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Hydranencephaly (HP:0002324)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Focal emotional seizure with laughing (HP:0010821)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Atonic seizure (HP:0010819)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Esophagitis (HP:0100633)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Athetosis (HP:0002305)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Cerebral hypoplasia (HP:0006872)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Nystagmus (HP:0000639)
Associated disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Gene: PHGDH
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Short stature (HP:0004322)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Irritability (HP:0000737)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Atypical behavior (HP:0000708)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Gene: PHGDH
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Ichthyosis (HP:0008064)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Hyposerinemia (HP:0012279)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Hypoglycinemia (HP:0012277)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Clinodactyly (HP:0030084)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Microcephaly (HP:0000252)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Growth delay (HP:0001510)
Associated disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Gene: PHGDH
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Camptodactyly (HP:0012385)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Sloping forehead (HP:0000340)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Micromelia (HP:0002983)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Macrotia (HP:0000400)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Delayed myelination (HP:0012448)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Brain atrophy (HP:0012444)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Broad neck (HP:0000475)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Short neck (HP:0000470)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Wide nose (HP:0000445)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Cataract (HP:0000518)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Developmental cataract (HP:0000519)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Developmental cataract (HP:0000519)
Associated disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Gene: PHGDH
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Proptosis (HP:0000520)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Ablepharon (HP:0011224)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Gene: PHGDH
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Microphthalmia (HP:0000568)
Associated disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Gene: PHGDH
Phenotype: Esotropia (HP:0000565)
Associated disease: PHGDH deficiency, infantile/juvenile form; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
Gene: PHGDH
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHGDH
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHGDH
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Gene: B3GAT3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Prominent antitragus (HP:0008593)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Broad distal phalanges of all fingers (HP:0009880)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Microtia (HP:0008551)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Microtia (HP:0008551)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GAT3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GAT3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Motor delay (HP:0001270)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Hypotonia (HP:0001252)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)