TaoMedAI/RareMedData huggingface dataset:
Gene: H19
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: H19
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Severe intrauterine growth retardation (HP:0008846)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Neoplasm (HP:0002664)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: H19
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: WILMS TUMOR 1 (OMIM:194070)
Gene: H19
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WILMS TUMOR 1 (OMIM:194070)
Gene: H19
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: H19
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Abnormal uterus morphology (HP:0031105)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: H19
Phenotype: Macroglossia (HP:0000158)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Floppy infant (HP:0008947)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Pancreatic hyperplasia (HP:0006277)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: WILMS TUMOR 1 (OMIM:194070)
Gene: H19
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Midface retrusion (HP:0011800)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Dyspnea (HP:0002094)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Upper limb asymmetry (HP:0100560)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Asymmetric growth (HP:0100555)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Polydactyly (HP:0010442)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Adrenocortical cytomegaly (HP:0008186)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Reduced von Willebrand factor activity (HP:0008330)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Posterior helix pit (HP:0008523)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Placental mesenchymal dysplasia (HP:0032165)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Duplication of renal pelvis (HP:0005580)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Fever (HP:0001945)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Anemia (HP:0001903)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Polycythemia (HP:0001901)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Dental crowding (HP:0000678)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Decreased body weight (HP:0004325)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Short stature (HP:0004322)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Short stature (HP:0004322)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: H19
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Renal cortical cysts (HP:0000803)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Varicocele (HP:0012871)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Abnormal external genitalia morphology (HP:0000811)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Hypertension (HP:0000822)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Overgrowth of external genitalia (HP:0003247)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Coarse facial features (HP:0000280)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Prominent occiput (HP:0000269)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Large fontanelles (HP:0000239)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Overgrowth (HP:0001548)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: High palate (HP:0000218)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Asymmetry of the thorax (HP:0001555)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: H19
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: H19
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Diastasis recti (HP:0001540)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Diastasis recti (HP:0001540)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Omphalocele (HP:0001539)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Abdominal mass (HP:0031500)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Short chin (HP:0000331)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Triangular face (HP:0000325)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Triangular face (HP:0000325)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: H19
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Protruding ear (HP:0000411)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Aniridia (HP:0000526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Proptosis (HP:0000520)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Weight loss (HP:0001824)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PGM2L1
Phenotype: Prominent antitragus (HP:0008593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)