TaoMedAI/RareMedData huggingface dataset:
Gene: IKBKG
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Uveitis (HP:0000554)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Uveitis (HP:0000554)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Microphthalmia (HP:0000568)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Retinal detachment (HP:0000541)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: ELP1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Abnormal peritoneum morphology (HP:0002585)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Seizure (HP:0001250)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Ataxia (HP:0001251)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: ELP1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: ELP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: ELP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: ELP1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Constipation (HP:0002019)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Diarrhea (HP:0002014)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Vomiting (HP:0002013)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Decreased sensitivity to hypoxemia (HP:0005947)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Abnormal pleura morphology (HP:0002103)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Recurrent infections due to aspiration (HP:0004891)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Progressive (HP:0003676)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Corneal erosion (HP:0200020)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Incoordination (HP:0002311)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Emotional lability (HP:0000712)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Hypertension (HP:0000822)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Decreased corneal reflex (HP:0008000)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Pupillary hypersensitivity to parasympathomimetic agents (HP:6000993)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Neuropathic arthropathy (HP:0002821)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Hypogeusia (HP:0000224)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: ELP1
Phenotype: Growth delay (HP:0001510)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Growth delay (HP:0001510)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Tachycardia (HP:0001649)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Tachycardia (HP:0001649)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Alacrima (HP:0000522)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Gene: ELP1
Phenotype: Alacrima (HP:0000522)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: ELP1
Phenotype: Myopia (HP:0000545)
Associated disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Gene: DGKE
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: DGKE
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: DGKE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: DGKE
Phenotype: Podocyte foot process effacement (HP:0031266)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: DGKE
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: DGKE
Phenotype: Thickened glomerular basement membrane (HP:0004722)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: DGKE
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: DGKE
Phenotype: Progressive (HP:0003676)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: DGKE
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: DGKE
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: DGKE
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: DGKE
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: DGKE
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: DGKE
Phenotype: Membranoproliferative glomerulonephritis (HP:0000793)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: DGKE
Phenotype: Early young adult onset (HP:0025708)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: DGKE
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: DGKE
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: NEPHROTIC SYNDROME, TYPE 7 (OMIM:615008)
Gene: AGPS
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 (OMIM:600121)
Gene: AGPS
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 (OMIM:600121)
Gene: AGPS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Rhizomelia (HP:0008905)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 (OMIM:600121)
Gene: AGPS
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 (OMIM:600121)
Gene: AGPS
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts (HP:6000427)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 (OMIM:600121)
Gene: AGPS
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGPS
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGPS
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)