TaoMedAI/RareMedData huggingface dataset:
Gene: AAAS
Phenotype: Alacrima (HP:0000522)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Alacrima (HP:0000522)
Associated disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Gene: AAAS
Phenotype: Weight loss (HP:0001824)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: AAAS
Phenotype: Visual impairment (HP:0000505)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: FXR1
Phenotype: Minicore myopathy (HP:0003789)
Associated disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Gene: FXR1
Phenotype: Z-band streaming (HP:0020203)
Associated disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Gene: FXR1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Gene: FXR1
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES (OMIM:618822)
Gene: FXR1
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Gene: FXR1
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES (OMIM:618822)
Gene: FXR1
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Gene: FXR1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Gene: FXR1
Phenotype: Hypoplastic male external genitalia (HP:0000050)
Associated disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Gene: FXR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES (OMIM:618822)
Gene: FXR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Gene: FXR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES (OMIM:618822)
Gene: FXR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Gene: FXR1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES (OMIM:618822)
Gene: FXR1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Gene: FXR1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES (OMIM:618822)
Gene: FXR1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Gene: FXR1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES (OMIM:618822)
Gene: FXR1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Gene: FXR1
Phenotype: Akinesia (HP:0002304)
Associated disease: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES (OMIM:618822)
Gene: FXR1
Phenotype: Short stature (HP:0004322)
Associated disease: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES (OMIM:618822)
Gene: FXR1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES (OMIM:618822)
Gene: FXR1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Gene: FXR1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Gene: FXR1
Phenotype: Death in infancy (HP:0001522)
Associated disease: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES (OMIM:618822)
Gene: FXR1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES (OMIM:618822)
Gene: FXR1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Gene: FXR1
Phenotype: Obesity (HP:0001513)
Associated disease: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES (OMIM:618822)
Gene: FXR1
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS (OMIM:618823)
Gene: HMGA2
Phenotype: Syndactyly (HP:0001159)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Motor delay (HP:0001270)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: WDLS; Atypical lipoma; Well-differentiated liposarcoma; Atypical lipomatous tumor; ALT (ORPHA:99971)
Gene: HMGA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SILVER-RUSSELL SYNDROME 5 (OMIM:618908)
Gene: HMGA2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Tremor (HP:0001337)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SILVER-RUSSELL SYNDROME 5 (OMIM:618908)
Gene: HMGA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: WDLS; Atypical lipoma; Well-differentiated liposarcoma; Atypical lipomatous tumor; ALT (ORPHA:99971)
Gene: HMGA2
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Small placenta (HP:0006266)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SILVER-RUSSELL SYNDROME 5 (OMIM:618908)
Gene: HMGA2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Asthma (HP:0002099)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Asymmetric growth (HP:0100555)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Syringomyelia (HP:0003396)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Polydactyly (HP:0010442)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Birth length less than 3rd percentile (HP:0003561)
Associated disease: SILVER-RUSSELL SYNDROME 5 (OMIM:618908)
Gene: HMGA2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Dysmenorrhea (HP:0100607)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Osteopoikilosis (HP:0010739)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Hypodontia (HP:0000668)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Synophrys (HP:0000664)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Short stature (HP:0004322)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: SILVER-RUSSELL SYNDROME 5 (OMIM:618908)
Gene: HMGA2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Ectrodactyly (HP:0100257)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: WDLS; Atypical lipoma; Well-differentiated liposarcoma; Atypical lipomatous tumor; ALT (ORPHA:99971)
Gene: HMGA2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SILVER-RUSSELL SYNDROME 5 (OMIM:618908)