TaoMedAI/RareMedData huggingface dataset:
Gene: INS
Phenotype: Abnormal circulating C-peptide concentration (HP:0030794)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Neonatal insulin-dependent diabetes mellitus (HP:0000857)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: HYPERPROINSULINEMIA (OMIM:616214)
Gene: INS
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10 (OMIM:613370)
Gene: INS
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Abnormal circulating insulin concentration (HP:0040214)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 4 (OMIM:618858)
Gene: INS
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Overweight (HP:0025502)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Small for gestational age (HP:0001518)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 4 (OMIM:618858)
Gene: INS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10 (OMIM:613370)
Gene: INS
Phenotype: Obesity (HP:0001513)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Ketonuria (HP:0002919)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Retinopathy (HP:0000488)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: INS
Phenotype: Retinopathy (HP:0000488)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Early young adult onset (HP:0025708)
Associated disease: TYPE 1 DIABETES MELLITUS 2 (OMIM:125852)
Gene: INS
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Weight loss (HP:0001824)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INS
Phenotype: Moderate albuminuria (HP:0012594)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: INPPL1
Phenotype: Tapered finger (HP:0001182)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Motor delay (HP:0001270)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Small foramen magnum (HP:0002677)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Increased fibular diameter (HP:0012107)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Advanced tarsal ossification (HP:0008108)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Abnormally ossified vertebrae (HP:0100569)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Congenital onset (HP:0003577)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Severe short stature (HP:0003510)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Severe short stature (HP:0003510)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Lymphedema (HP:0001004)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Short palm (HP:0004279)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Broad thumb (HP:0011304)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Short long bone (HP:0003026)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Narrow chest (HP:0000774)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Short ribs (HP:0000773)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Short nose (HP:0003196)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Short nose (HP:0003196)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Posterior rib cupping (HP:0000922)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Squared iliac bones (HP:0003177)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Squared iliac bones (HP:0003177)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Hypoplastic ischia (HP:0003175)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Hypoplastic ischia (HP:0003175)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Hypoplastic pubic bone (HP:0003173)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Hypoplastic pubic bone (HP:0003173)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Edema (HP:0000969)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Low-set ears (HP:0000369)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)