TaoMedAI/RareMedData huggingface dataset:
Gene: ALB
Phenotype: Obesity (HP:0001513)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Fatigue (HP:0012378)
Associated disease: ANALBUMINEMIA (OMIM:616000)
Gene: ALB
Phenotype: Fatigue (HP:0012378)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Miscarriage (HP:0005268)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: ANALBUMINEMIA (OMIM:616000)
Gene: ALB
Phenotype: Premature birth (HP:0001622)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Increased alpha-globulin (HP:0005413)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ABCD1
Phenotype: CNS demyelination (HP:0007305)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Sepsis (HP:0100806)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Lip hyperpigmentation (HP:0100816)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Confusion (HP:0001289)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Seizure (HP:0001250)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Seizure (HP:0001250)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Ataxia (HP:0001251)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Dysarthria (HP:0001260)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Spasticity (HP:0001257)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Impaired continence (HP:0031064)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Inability to walk (HP:0002540)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Increased circulating very long-chain fatty acid concentration (HP:0033643)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Cholestasis (HP:0001396)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Slurred speech (HP:0001350)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Urinary retention (HP:0000016)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Dystonia (HP:0001332)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Dysmetria (HP:0001310)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Constipation (HP:0002019)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Diarrhea (HP:0002014)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Dysphagia (HP:0002015)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Spastic gait (HP:0002064)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Decreased circulating vitamin B12 concentration (HP:0100502)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Adrenocorticotropic hormone excess (HP:0011749)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Very long chain fatty acid accumulation (HP:0008167)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Very long chain fatty acid accumulation (HP:0008167)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Abnormal spinal cord morphology (HP:0002143)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Abnormal spinal cord morphology (HP:0002143)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Elevated circulating long chain fatty acid concentration (HP:0003455)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Back pain (HP:0003418)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Delayed passage of meconium (HP:6000224)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Apraxia (HP:0002186)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Myelopathy (HP:0002196)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Astereognosis (HP:0010527)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Fine hair (HP:0002213)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Frontal balding (HP:0002292)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Generalized hyperreflexia (HP:0007034)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Dorsal column degeneration (HP:0007006)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Paraparesis (HP:0002385)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Loss of speech (HP:0002371)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Progressive (HP:0003676)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Memory impairment (HP:0002354)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Diffuse demyelination of the cerebral white matter (HP:0007162)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Incoordination (HP:0002311)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Progressive spastic paraparesis (HP:0007199)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Bilious emesis (HP:0034754)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Abnormal libido (HP:0031845)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Blindness (HP:0000618)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Blindness (HP:0000618)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Short stature (HP:0004322)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Impaired vibration sensation at ankles (HP:0006938)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Hamstring contractures (HP:0003089)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Impotence (HP:0000802)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Enterocolitis (HP:0004387)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Abnormal circulating fatty-acid concentration (HP:0004359)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Abnormal circulating fatty-acid concentration (HP:0004359)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Peripheral axonal degeneration (HP:0000764)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Short attention span (HP:0000736)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Dementia (HP:0000726)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Psychosis (HP:0000709)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Short nose (HP:0003196)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Adrenocortical abnormality (HP:0000849)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Intra-oral hyperpigmentation (HP:0010284)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Delayed somatosensory central conduction time (HP:0100291)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Alopecia (HP:0001596)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Vegetative state (HP:0031358)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Colon perforation (HP:0031369)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Growth delay (HP:0001510)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Fatigue (HP:0012378)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Abnormality of peripheral nervous system electrophysiology (HP:0030177)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ABCD1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Facial myokymia (HP:0000317)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Cholangitis (HP:0030151)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Strabismus (HP:0000486)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Visual agnosia (HP:0030222)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Abnormal brainstem white matter morphology (HP:0012501)
Associated disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Gene: ABCD1
Phenotype: Cataract (HP:0000518)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Gene: ABCD1
Phenotype: Weight loss (HP:0001824)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ABCD1
Phenotype: Visual loss (HP:0000572)
Associated disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Gene: ABCD1
Phenotype: Dysesthesia (HP:0012534)
Associated disease: Adrenomyeloneuropathy (ORPHA:139399)
Gene: ALDH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALCOHOL SENSITIVITY, ACUTE (OMIM:610251)