TaoMedAI/RareMedData huggingface dataset:
Gene: GPX4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Horizontal inferior border of scapula (HP:0031233)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Irregular tarsal bones (HP:0004688)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Rhizomelic arm shortening (HP:0004991)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Focal lissencephaly (HP:0007187)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Short palm (HP:0004279)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Long fibula (HP:0003085)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Long fibula (HP:0003085)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Short long bone (HP:0003026)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Abnormal scapula morphology (HP:0000782)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Narrow chest (HP:0000774)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Narrow chest (HP:0000774)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Short ribs (HP:0000773)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Large posterior fontanelle (HP:0004491)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Cupped ribs (HP:0000887)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Myocarditis (HP:0012819)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Myocarditis (HP:0012819)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Metaphyseal chondrodysplasia (HP:0005871)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Short finger (HP:0009381)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Arrhythmia (HP:0011675)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Turricephaly (HP:0000262)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Turricephaly (HP:0000262)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Redundant skin (HP:0001582)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Cardiorespiratory arrest (HP:0006543)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
Gene: GPX4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPX4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Short toe (HP:0001831)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (OMIM:250220)
Gene: GPX4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPX4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GRB10
Phenotype: Brachydactyly (HP:0001156)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Syndactyly (HP:0001159)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Motor delay (HP:0001270)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Hypospadias (HP:0000047)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Severe intrauterine growth retardation (HP:0008846)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Specific learning disability (HP:0001328)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Scoliosis (HP:0002650)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Narrow joint spaces of the elbow (HP:0003944)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Narrow mouth (HP:0000160)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: High, narrow palate (HP:0002705)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Constipation (HP:0002019)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Vomiting (HP:0002013)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Frontal bossing (HP:0002007)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Asymmetric growth (HP:0100555)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Esophagitis (HP:0100633)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Shoulder dimple (HP:0010782)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Dental crowding (HP:0000678)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Microdontia (HP:0000691)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Poor appetite (HP:0004396)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Insulin resistance (HP:0000855)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Precocious puberty (HP:0000826)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Clinodactyly (HP:0030084)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Failure to thrive (HP:0001508)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Aspiration (HP:0002835)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Small for gestational age (HP:0001518)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Increased overbite (HP:0011094)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Micrognathia (HP:0000347)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Short chin (HP:0000331)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Triangular face (HP:0000325)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)
Gene: GRB10
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: UPD(7)mat; Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (ORPHA:96182)