TaoMedAI/RareMedData huggingface dataset:
Gene: POLG
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLH
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLH
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLH
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Xeroderma pigmentosum variant; XPV (ORPHA:90342)
Gene: POLH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLH
Phenotype: Freckles in sun-exposed areas (HP:0007603)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLH
Phenotype: Freckles in sun-exposed areas (HP:0007603)
Associated disease: Xeroderma pigmentosum variant; XPV (ORPHA:90342)
Gene: POLH
Phenotype: Infantile onset (HP:0003593)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLH
Phenotype: Cutaneous telangiectasia (HP:0034697)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLH
Phenotype: Poikiloderma (HP:0001029)
Associated disease: Xeroderma pigmentosum variant; XPV (ORPHA:90342)
Gene: POLH
Phenotype: Poikiloderma (HP:0001029)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLH
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Xeroderma pigmentosum variant; XPV (ORPHA:90342)
Gene: POLH
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Xeroderma pigmentosum variant; XPV (ORPHA:90342)
Gene: POLH
Phenotype: Photophobia (HP:0000613)
Associated disease: Xeroderma pigmentosum variant; XPV (ORPHA:90342)
Gene: POLH
Phenotype: Photophobia (HP:0000613)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLH
Phenotype: Entropion (HP:0000621)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLH
Phenotype: Ectropion (HP:0000656)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLH
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLH
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Xeroderma pigmentosum variant; XPV (ORPHA:90342)
Gene: POLH
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLH
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Xeroderma pigmentosum variant; XPV (ORPHA:90342)
Gene: POLH
Phenotype: Dry skin (HP:0000958)
Associated disease: Xeroderma pigmentosum variant; XPV (ORPHA:90342)
Gene: POLH
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Xeroderma pigmentosum variant; XPV (ORPHA:90342)
Gene: POLH
Phenotype: Microcephaly (HP:0000252)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLH
Phenotype: Melanoma (HP:0002861)
Associated disease: Xeroderma pigmentosum variant; XPV (ORPHA:90342)
Gene: POLH
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLH
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Xeroderma pigmentosum variant; XPV (ORPHA:90342)
Gene: POLH
Phenotype: Growth delay (HP:0001510)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLH
Phenotype: Keratitis (HP:0000491)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLH
Phenotype: Keratitis (HP:0000491)
Associated disease: Xeroderma pigmentosum variant; XPV (ORPHA:90342)
Gene: POLH
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Gene: POLR2A
Phenotype: Abnormal globus pallidus morphology (HP:0002453)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Typically de novo (HP:0025352)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Frog-leg posture (HP:0031139)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Cleft palate (HP:0000175)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Tooth malposition (HP:0000692)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Brachycephaly (HP:0000248)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: High forehead (HP:0000348)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLR2A
Phenotype: Visual impairment (HP:0000505)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Gene: POLRMT
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Muscle weakness (HP:0001324)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Absent speech (HP:0001344)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Open mouth (HP:0000194)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Constipation (HP:0002019)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Type 2 muscle fiber predominance (HP:0010602)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Middle age onset (HP:0003596)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Stage 3 chronic kidney disease (HP:0012625)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Hypotelorism (HP:0000601)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Anemia (HP:0001903)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Organic aciduria (HP:0001992)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Short stature (HP:0004322)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Enuresis (HP:0000805)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Childhood onset (HP:0011463)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Young adult onset (HP:0011462)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Myopathy (HP:0003198)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Epicanthus (HP:0000286)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: High-frequency hearing impairment (HP:0005101)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: High palate (HP:0000218)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Genu varum (HP:0002970)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Strabismus (HP:0000486)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Anteverted nares (HP:0000463)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Medullary nephrocalcinosis (HP:0012408)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Exotropia (HP:0000577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Blue sclerae (HP:0000592)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POLRMT
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Gene: POMC
Phenotype: Decreased growth hormone responses to growth hormone-releasing hormone challenge (HP:0033579)
Associated disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Gene: POMC
Phenotype: Polyphagia (HP:0002591)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Polyphagia (HP:0002591)
Associated disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Gene: POMC
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: OBESITY (OMIM:601665)
Gene: POMC
Phenotype: Cholestasis (HP:0001396)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Cholestasis (HP:0001396)
Associated disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Gene: POMC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Gene: POMC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OBESITY (OMIM:601665)
Gene: POMC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OBESITY (OMIM:601665)
Gene: POMC
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Adrenocorticotropic hormone deficiency (HP:0011748)
Associated disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Gene: POMC
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Gene: POMC
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Gene: POMC
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Gonadotropin deficiency (HP:0008213)
Associated disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Gene: POMC
Phenotype: Gonadotropin deficiency (HP:0008213)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Infantile onset (HP:0003593)
Associated disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Gene: POMC
Phenotype: Red hair (HP:0002297)
Associated disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Gene: POMC
Phenotype: Red hair (HP:0002297)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Neonatal onset (HP:0003623)
Associated disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Gene: POMC
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: OBESITY (OMIM:601665)
Gene: POMC
Phenotype: Increased adipose tissue (HP:0009126)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Gene: POMC
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Gene: POMC
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Gene: POMC
Phenotype: Delayed puberty (HP:0000823)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Growth delay (HP:0001510)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Obesity (HP:0001513)
Associated disease: POMC deficiency; Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
Gene: POMC
Phenotype: Obesity (HP:0001513)
Associated disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Gene: POMC
Phenotype: Obesity (HP:0001513)
Associated disease: OBESITY (OMIM:601665)
Gene: POMC
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR (OMIM:609734)
Gene: POMC
Phenotype: Decreased resting energy expenditure (HP:0012340)
Associated disease: OBESITY (OMIM:601665)
Gene: PON1
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)