TaoMedAI/RareMedData huggingface dataset:
Gene: PLA2G4A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS (OMIM:618372)
Gene: PLA2G4A
Phenotype: Decreased circulating 12-HETE (HP:0032575)
Associated disease: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS (OMIM:618372)
Gene: PLA2G4A
Phenotype: Esophageal ulceration (HP:0004791)
Associated disease: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS (OMIM:618372)
Gene: PLA2G4A
Phenotype: Impaired platelet aggregation (HP:0003540)
Associated disease: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS (OMIM:618372)
Gene: PLA2G4A
Phenotype: Abnormal circulating eicosanoid concentration (HP:0030361)
Associated disease: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS (OMIM:618372)
Gene: PLA2G4A
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS (OMIM:618372)
Gene: PLA2G5
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLA2G5
Phenotype: Retinal flecks (HP:0012045)
Associated disease: FLECK RETINA, FAMILIAL BENIGN (OMIM:228980)
Gene: PLA2G5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLA2G5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FLECK RETINA, FAMILIAL BENIGN (OMIM:228980)
Gene: PLA2G5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLA2G5
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLA2G5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLA2G5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLA2G5
Phenotype: Nyctalopia (HP:0000662)
Associated disease: FLECK RETINA, FAMILIAL BENIGN (OMIM:228980)
Gene: PLA2G5
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLA2G5
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLA2G5
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLA2G5
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLA2G5
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLA2G5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLA2G5
Phenotype: Visual impairment (HP:0000505)
Associated disease: FLECK RETINA, FAMILIAL BENIGN (OMIM:228980)
Gene: PLA2G5
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLA2G5
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLA2G5
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PLAG1
Phenotype: Syndactyly (HP:0001159)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Motor delay (HP:0001270)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SILVER-RUSSELL SYNDROME 4 (OMIM:618907)
Gene: PLAG1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SILVER-RUSSELL SYNDROME 4 (OMIM:618907)
Gene: PLAG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SALIVARY GLAND ADENOMA, PLEOMORPHIC (OMIM:181030)
Gene: PLAG1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Small placenta (HP:0006266)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: SALIVARY GLAND ADENOMA, PLEOMORPHIC (OMIM:181030)
Gene: PLAG1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Asthma (HP:0002099)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Asymmetric growth (HP:0100555)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Polydactyly (HP:0010442)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Birth length less than 3rd percentile (HP:0003561)
Associated disease: SILVER-RUSSELL SYNDROME 4 (OMIM:618907)
Gene: PLAG1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Salivary gland neoplasm (HP:0100684)
Associated disease: SALIVARY GLAND ADENOMA, PLEOMORPHIC (OMIM:181030)
Gene: PLAG1
Phenotype: Dysmenorrhea (HP:0100607)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: SILVER-RUSSELL SYNDROME 4 (OMIM:618907)
Gene: PLAG1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Ectrodactyly (HP:0100257)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Mild microcephaly (HP:0040196)
Associated disease: SILVER-RUSSELL SYNDROME 4 (OMIM:618907)
Gene: PLAG1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SILVER-RUSSELL SYNDROME 4 (OMIM:618907)
Gene: PLAG1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Triangular face (HP:0000325)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Triangular face (HP:0000325)
Associated disease: SILVER-RUSSELL SYNDROME 4 (OMIM:618907)
Gene: PLAG1
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Microphallus (HP:0030260)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAG1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: PLAG1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SILVER-RUSSELL SYNDROME 4 (OMIM:618907)
Gene: PLAG1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLAG1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLAGL1
Phenotype: Abdominal wall defect (HP:0010866)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Seizure (HP:0001250)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Labial hypertrophy (HP:0000065)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: PLAGL1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Macroglossia (HP:0000158)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Macroglossia (HP:0000158)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: PLAGL1
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Abnormal placenta morphology (HP:0100767)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Dehydration (HP:0001944)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Dehydration (HP:0001944)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Dehydration (HP:0001944)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: PLAGL1
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Gene: PLAGL1
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Neonatal insulin-dependent diabetes mellitus (HP:0000857)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: PLAGL1
Phenotype: Retrognathia (HP:0000278)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)
Gene: PLAGL1
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: UPD(6)pat; Paternal uniparental disomy of chromosome 6 syndrome (ORPHA:96191)