TaoMedAI/RareMedData huggingface dataset:
Gene: POU3F4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Seizure (HP:0001250)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Ataxia (HP:0001251)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: POU3F4
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Adrenocorticotropic hormone deficiency (HP:0011748)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Anterior pituitary dysgenesis (HP:0010625)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: POU3F4
Phenotype: Chorioretinal degeneration (HP:0200065)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Visual acuity test abnormality (HP:0030532)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Ankle clonus (HP:0011448)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Dilatated internal auditory canal (HP:0004458)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: POU3F4
Phenotype: Dilatated internal auditory canal (HP:0004458)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Central diabetes insipidus (HP:0000863)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Hypertension (HP:0000822)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Abnormality of the Achilles tendon (HP:0005109)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Growth delay (HP:0001510)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Obesity (HP:0001513)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Stapes ankylosis (HP:0000381)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: POU3F4
Phenotype: Stapes ankylosis (HP:0000381)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Abnormal cochlea morphology (HP:0000375)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Reticular pigmentary degeneration (HP:0007937)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: POU3F4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: POU3F4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Strabismus (HP:0000486)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: POU3F4
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU4F1
Phenotype: Nonprogressive cerebellar ataxia (HP:0002470)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Hypotonia (HP:0001252)
Associated disease: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET (OMIM:619352)
Gene: POU4F1
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Ataxia (HP:0001251)
Associated disease: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET (OMIM:619352)
Gene: POU4F1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Dysarthria (HP:0001260)
Associated disease: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET (OMIM:619352)
Gene: POU4F1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET (OMIM:619352)
Gene: POU4F1
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET (OMIM:619352)
Gene: POU4F1
Phenotype: Dysmetria (HP:0001310)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Dysmetria (HP:0001310)
Associated disease: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET (OMIM:619352)
Gene: POU4F1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET (OMIM:619352)
Gene: POU4F1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Constipation (HP:0002019)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Large forehead (HP:0002003)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Palpebral edema (HP:0100540)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Intention tremor (HP:0002080)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Intention tremor (HP:0002080)
Associated disease: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET (OMIM:619352)
Gene: POU4F1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Nystagmus (HP:0000639)
Associated disease: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET (OMIM:619352)
Gene: POU4F1
Phenotype: Short ear (HP:0400005)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET (OMIM:619352)
Gene: POU4F1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Long face (HP:0000276)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Hypoplastic hippocampus (HP:0025517)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Speech apraxia (HP:0011098)
Associated disease: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET (OMIM:619352)
Gene: POU4F1
Phenotype: Mesiodens (HP:0011067)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Pointed chin (HP:0000307)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Strabismus (HP:0000486)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET (OMIM:619352)
Gene: POU4F1
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Wide nose (HP:0000445)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Gene: POU4F1
Phenotype: Esotropia (HP:0000565)
Associated disease: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET (OMIM:619352)
Gene: POU4F3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 15 (OMIM:602459)
Gene: POU4F3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 15 (OMIM:602459)
Gene: PPARG
Phenotype: Large hands (HP:0001176)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: OBESITY (OMIM:601665)
Gene: PPARG
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Bone cyst (HP:0012062)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Cirrhosis (HP:0001394)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Adipose tissue loss (HP:0008887)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Abnormality of skeletal muscle fiber size (HP:0012084)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Prominent veins on trunk (HP:0007457)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OBESITY (OMIM:601665)
Gene: PPARG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PPARG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OBESITY (OMIM:601665)
Gene: PPARG
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Macroglossia (HP:0000158)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Myalgia (HP:0003326)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PPARG
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Precocious puberty in females (HP:0010465)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PPARG
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Hirsutism (HP:0001007)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Eclampsia (HP:0100601)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Preeclampsia (HP:0100602)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Dysmenorrhea (HP:0100607)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)