TaoMedAI/RareMedData huggingface dataset:
Gene: GDF2
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Anemia (HP:0001903)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 (OMIM:615506)
Gene: GDF2
Phenotype: Retinal telangiectasia (HP:0007763)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Lip telangiectasia (HP:0000214)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Tongue telangiectasia (HP:0000227)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Abnormal cardiovascular system physiology (HP:0011025)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Hepatic arteriovenous malformation (HP:0006574)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Pulmonary arteriovenous malformation (HP:0006548)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 (OMIM:615506)
Gene: GDF2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Nasal mucosa telangiectasia (HP:0000434)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Epistaxis (HP:0000421)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: GDF2
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: MSTN
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: MUSCLE HYPERTROPHY (OMIM:614160)
Gene: MSTN
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MUSCLE HYPERTROPHY (OMIM:614160)
Gene: MSTN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCLE HYPERTROPHY (OMIM:614160)
Gene: GDF9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PREMATURE OVARIAN FAILURE 14 (OMIM:618014)
Gene: GDF9
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PREMATURE OVARIAN FAILURE 14 (OMIM:618014)
Gene: GDF9
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: PREMATURE OVARIAN FAILURE 14 (OMIM:618014)
Gene: GDF9
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: PREMATURE OVARIAN FAILURE 14 (OMIM:618014)
Gene: GDF9
Phenotype: Young adult onset (HP:0011462)
Associated disease: PREMATURE OVARIAN FAILURE 14 (OMIM:618014)
Gene: GDF9
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PREMATURE OVARIAN FAILURE 14 (OMIM:618014)
Gene: GDI1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, X-LINKED 41 (OMIM:300849)
Gene: GDI1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MENTAL RETARDATION, X-LINKED 41 (OMIM:300849)
Gene: GDI1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 41 (OMIM:300849)
Gene: GDI1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED 41 (OMIM:300849)
Gene: GDI1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: MENTAL RETARDATION, X-LINKED 41 (OMIM:300849)
Gene: GDI1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MENTAL RETARDATION, X-LINKED 41 (OMIM:300849)
Gene: GDI1
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: MENTAL RETARDATION, X-LINKED 41 (OMIM:300849)
Gene: GDI1
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: MENTAL RETARDATION, X-LINKED 41 (OMIM:300849)
Gene: GDI1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MENTAL RETARDATION, X-LINKED 41 (OMIM:300849)
Gene: GDNF
Phenotype: Sepsis (HP:0100806)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: GDNF
Phenotype: Hypotonia (HP:0001252)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: GDNF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 (OMIM:613711)
Gene: GDNF
Phenotype: Constipation (HP:0002019)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Diarrhea (HP:0002014)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: GDNF
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: GDNF
Phenotype: Delayed passage of meconium (HP:6000224)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: GDNF
Phenotype: Congenital onset (HP:0003577)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 (OMIM:613711)
Gene: GDNF
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: GDNF
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 (OMIM:613711)
Gene: GDNF
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Bilious emesis (HP:0034754)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Short stature (HP:0004322)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Ganglioneuroma (HP:0003005)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: GDNF
Phenotype: Enterocolitis (HP:0004387)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: GDNF
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: GDNF
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Abdominal distention (HP:0003270)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Colon perforation (HP:0031369)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Growth delay (HP:0001510)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GDNF
Phenotype: Ganglioneuroblastoma (HP:0006747)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: GDNF
Phenotype: Total colonic aganglionosis (HP:0011286)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 (OMIM:613711)
Gene: GDNF
Phenotype: Long-segment aganglionic megacolon (HP:0011285)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 (OMIM:613711)
Gene: GDNF
Phenotype: Weight loss (HP:0001824)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: GFAP
Phenotype: Bulbar signs (HP:0002483)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Cervical spinal cord atrophy (HP:0010873)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Seizure (HP:0001250)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Seizure (HP:0001250)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Hypotonia (HP:0001252)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Ataxia (HP:0001251)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Ataxia (HP:0001251)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Ataxia (HP:0001251)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Dysarthria (HP:0001260)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Dysarthria (HP:0001260)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Dysarthria (HP:0001260)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Spasticity (HP:0001257)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Spasticity (HP:0001257)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Spasticity (HP:0001257)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Death in childhood (HP:0003819)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Dysmetria (HP:0001310)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Scoliosis (HP:0002650)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Scoliosis (HP:0002650)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Microcoria (HP:0025492)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Dysphagia (HP:0002015)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Dysphagia (HP:0002015)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Vomiting (HP:0002013)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Rigidity (HP:0002063)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Babinski sign (HP:0003487)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Babinski sign (HP:0003487)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Palatal tremor (HP:0010530)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Palatal tremor (HP:0010530)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Palatal tremor (HP:0010530)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Infantile onset (HP:0003593)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Developmental regression (HP:0002376)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Drowsiness (HP:0002329)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Diffuse demyelination of the cerebral white matter (HP:0007162)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Focal T2 hyperintense basal ganglia lesion (HP:0007183)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Nystagmus (HP:0000639)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Abnormal thalamic MRI signal intensity (HP:0012696)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Cachexia (HP:0004326)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Apathy (HP:0000741)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Childhood onset (HP:0011463)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Abnormal medulla oblongata morphology (HP:0011441)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Death in adolescence (HP:0011421)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Abnormal dentate nucleus morphology (HP:0100321)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Rosenthal fibers (HP:0100320)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Progressive macrocephaly (HP:0004481)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Progressive macrocephaly (HP:0004481)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Death in infancy (HP:0001522)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Alexander disease type I; AxD type I (ORPHA:363717)
Gene: GFAP
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Fatigue (HP:0012378)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Dysphonia (HP:0001618)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFAP
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: AxD type II; Alexander disease type II (ORPHA:363722)
Gene: GFAP
Phenotype: Late young adult onset (HP:0025710)
Associated disease: ALEXANDER DISEASE (OMIM:203450)
Gene: GFER
Phenotype: Hypotonia (HP:0001252)
Associated disease: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome; Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome (ORPHA:330054)
Gene: GFER
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY (OMIM:613076)
Gene: GFER
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome; Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome (ORPHA:330054)
Gene: GFER
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome; Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome (ORPHA:330054)
Gene: GFER
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY (OMIM:613076)
Gene: GFER
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome; Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome (ORPHA:330054)
Gene: GFER
Phenotype: Decreased activity of mitochondrial respiratory chain (HP:0008972)
Associated disease: MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY (OMIM:613076)
Gene: GFER
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome; Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome (ORPHA:330054)
Gene: GFER
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome; Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome (ORPHA:330054)
Gene: GFER
Phenotype: Myopathy (HP:0003198)
Associated disease: MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY (OMIM:613076)
Gene: GFER
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome; Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome (ORPHA:330054)
Gene: GFER
Phenotype: Abnormal muscle fiber protein expression (HP:0030089)
Associated disease: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome; Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome (ORPHA:330054)
Gene: GFER
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome; Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome (ORPHA:330054)
Gene: GFER
Phenotype: Decreased circulating ferritin concentration (HP:0012343)
Associated disease: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome; Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome (ORPHA:330054)
Gene: GFER
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome; Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome (ORPHA:330054)