TaoMedAI/RareMedData huggingface dataset:
Gene: RET
Phenotype: Hemangioma (HP:0001028)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Headache (HP:0002315)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Central hypoventilation (HP:0007110)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Bilious emesis (HP:0034754)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Palpitations (HP:0001962)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Palpitations (HP:0001962)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Palpitations (HP:0001962)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Nonketotic hypoglycemia (HP:0001958)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Short stature (HP:0004322)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Ganglioneuroma (HP:0003005)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Ganglioneuroma (HP:0003005)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Enterocolitis (HP:0004387)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Enterocolitis (HP:0004387)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:142623)
Gene: RET
Phenotype: Abnormal enteric ganglion morphology (HP:0004362)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:142623)
Gene: RET
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Young adult onset (HP:0011462)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Hematuria (HP:0000790)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Hematuria (HP:0000790)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Myopathy (HP:0003198)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Episodic hypertension (HP:0000875)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Hypertension (HP:0000822)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Abdominal distention (HP:0003270)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Abdominal distention (HP:0003270)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:142623)
Gene: RET
Phenotype: Pallor (HP:0000980)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Epicanthus (HP:0000286)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Proximal femoral epiphysiolysis (HP:0006461)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Kyphosis (HP:0002808)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Arachnoid hemangiomatosis (HP:0012222)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: High palate (HP:0000218)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Fetal polyuria (HP:0001563)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Death in infancy (HP:0001522)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Medullary thyroid carcinoma (HP:0002865)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Medullary thyroid carcinoma (HP:0002865)
Associated disease: THYROID CARCINOMA, FAMILIAL MEDULLARY (OMIM:155240)
Gene: RET
Phenotype: Medullary thyroid carcinoma (HP:0002865)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Colon perforation (HP:0031369)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Growth delay (HP:0001510)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Fatigue (HP:0012378)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Fatigue (HP:0012378)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Dysphonia (HP:0001618)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Dysphonia (HP:0001618)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Low-set ears (HP:0000369)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Tachycardia (HP:0001649)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Strabismus (HP:0000486)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Pes cavus (HP:0001761)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Developmental cataract (HP:0000519)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Aniridia (HP:0000526)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Weight loss (HP:0001824)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Weight loss (HP:0001824)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Weight loss (HP:0001824)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: REV3L
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Motor delay (HP:0001270)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Hypotonia (HP:0001252)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Open mouth (HP:0000194)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Cleft palate (HP:0000175)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Dysphagia (HP:0002015)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Breast aplasia (HP:0100783)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Facial palsy (HP:0010628)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Aplasia of the pectoralis major muscle (HP:0009751)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Microdontia (HP:0000691)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Autism (HP:0000717)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Aplasia/Hypoplasia of the tongue (HP:0010295)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Epicanthus (HP:0000286)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: High palate (HP:0000218)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Death in infancy (HP:0001522)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Micrognathia (HP:0000347)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Blepharitis (HP:0000498)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Absent hand (HP:0004050)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Strabismus (HP:0000486)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Ptosis (HP:0000508)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: REV3L
Phenotype: Visual impairment (HP:0000505)
Associated disease: Möbius syndrome; Moebius syndrome (ORPHA:570)
Gene: RFC1
Phenotype: Impaired horizontal smooth pursuit (HP:0001151)
Associated disease: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
Gene: RFC1
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
Gene: RFC1
Phenotype: Abnormal rapid eye movement sleep (HP:0002494)
Associated disease: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
Gene: RFC1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
Gene: RFC1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CABV syndrome; Cerebellar ataxia with bilateral vestibulopathy syndrome; Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome; CANVAS (ORPHA:504476)
Gene: RFC1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
Gene: RFC1
Phenotype: Decreased distal sensory nerve action potential (HP:0007230)
Associated disease: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
Gene: RFC1
Phenotype: Vestibular areflexia (HP:0008568)
Associated disease: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
Gene: RFC1
Phenotype: Vestibular areflexia (HP:0008568)
Associated disease: CABV syndrome; Cerebellar ataxia with bilateral vestibulopathy syndrome; Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome; CANVAS (ORPHA:504476)
Gene: RFC1
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
Gene: RFC1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
Gene: RFC1
Phenotype: Areflexia (HP:0001284)
Associated disease: CABV syndrome; Cerebellar ataxia with bilateral vestibulopathy syndrome; Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome; CANVAS (ORPHA:504476)
Gene: RFC1
Phenotype: Ataxia (HP:0001251)
Associated disease: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
Gene: RFC1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
Gene: RFC1
Phenotype: Dysarthria (HP:0001260)
Associated disease: CABV syndrome; Cerebellar ataxia with bilateral vestibulopathy syndrome; Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome; CANVAS (ORPHA:504476)
Gene: RFC1
Phenotype: Dysarthria (HP:0001260)
Associated disease: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
Gene: RFC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)