TaoMedAI/RareMedData huggingface dataset:
Gene: DPF2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Strabismus (HP:0000486)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Strabismus (HP:0000486)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Small nail (HP:0001792)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Wide nose (HP:0000445)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Ptosis (HP:0000508)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Prominent eyelashes (HP:0011231)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Oral aversion (HP:0012523)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Myopia (HP:0000545)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: REST
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Hypospadias (HP:0000047)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Malaise (HP:0033834)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Neoplasm (HP:0002664)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: WILMS TUMOR 6 (OMIM:616806)
Gene: REST
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FIBROMATOSIS, GINGIVAL, 5 (OMIM:617626)
Gene: REST
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 27 (OMIM:612431)
Gene: REST
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WILMS TUMOR 6 (OMIM:616806)
Gene: REST
Phenotype: Abnormal uterus morphology (HP:0031105)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: Autosomal dominant gingival fibromatosis; Autosomal dominant gingival hyperplasia; Hereditary gingival fibromatosis; Hereditary gingival hyperplasia (ORPHA:2024)
Gene: REST
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: FIBROMATOSIS, GINGIVAL, 5 (OMIM:617626)
Gene: REST
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Dyspnea (HP:0002094)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Infantile onset (HP:0003593)
Associated disease: WILMS TUMOR 6 (OMIM:616806)
Gene: REST
Phenotype: Reduced von Willebrand factor activity (HP:0008330)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Juvenile onset (HP:0003621)
Associated disease: FIBROMATOSIS, GINGIVAL, 5 (OMIM:617626)
Gene: REST
Phenotype: Juvenile onset (HP:0003621)
Associated disease: WILMS TUMOR 6 (OMIM:616806)
Gene: REST
Phenotype: Duplication of renal pelvis (HP:0005580)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Fever (HP:0001945)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Anemia (HP:0001903)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Polycythemia (HP:0001901)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: FIBROMATOSIS, GINGIVAL, 5 (OMIM:617626)
Gene: REST
Phenotype: Childhood onset (HP:0011463)
Associated disease: FIBROMATOSIS, GINGIVAL, 5 (OMIM:617626)
Gene: REST
Phenotype: Childhood onset (HP:0011463)
Associated disease: WILMS TUMOR 6 (OMIM:616806)
Gene: REST
Phenotype: Varicocele (HP:0012871)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Hypertension (HP:0000822)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Autosomal dominant gingival fibromatosis; Autosomal dominant gingival hyperplasia; Hereditary gingival fibromatosis; Hereditary gingival hyperplasia (ORPHA:2024)
Gene: REST
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Abdominal mass (HP:0031500)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 27 (OMIM:612431)
Gene: REST
Phenotype: Aniridia (HP:0000526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Weight loss (HP:0001824)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: REST
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: RET
Phenotype: Pulsatile tinnitus (HP:0008629)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Pulsatile tinnitus (HP:0008629)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Panic attack (HP:0025269)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Panic attack (HP:0025269)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Sepsis (HP:0100806)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Seizure (HP:0001250)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Hypotonia (HP:0001252)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Hypotonia (HP:0001252)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Cutaneous lichen amyloidosis (HP:0032346)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Thyroid nodule (HP:0025388)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Proteinuria (HP:0000093)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Proteinuria (HP:0000093)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Proteinuria (HP:0000093)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Neoplasm (HP:0002664)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Paraganglioma (HP:0002668)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Paraganglioma (HP:0002668)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Tremor (HP:0001337)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Tremor (HP:0001337)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:142623)
Gene: RET
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THYROID CARCINOMA, FAMILIAL MEDULLARY (OMIM:155240)
Gene: RET
Phenotype: Pheochromocytoma (HP:0002666)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Pheochromocytoma (HP:0002666)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Pheochromocytoma (HP:0002666)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Hypertension associated with pheochromocytoma (HP:0002640)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Hypertension associated with pheochromocytoma (HP:0002640)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Scoliosis (HP:0002650)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Cleft palate (HP:0000175)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Flushing (HP:0031284)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Flushing (HP:0031284)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Flushing (HP:0031284)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: High, narrow palate (HP:0002705)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Nausea (HP:0002018)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Nausea (HP:0002018)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Constipation (HP:0002019)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Constipation (HP:0002019)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:142623)
Gene: RET
Phenotype: Constipation (HP:0002019)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Nodular goiter (HP:0005994)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Diarrhea (HP:0002014)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Diarrhea (HP:0002014)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Vomiting (HP:0002013)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:142623)
Gene: RET
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Breathing dysregulation (HP:0005957)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Thyroid C cell hyperplasia (HP:0011781)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Urogenital fistula (HP:0100589)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Sirenomelia (HP:0010497)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Delayed passage of meconium (HP:6000224)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Parathyroid hyperplasia (HP:0008208)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: RET
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: RET
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Adult onset (HP:0003581)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Haddad syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (ORPHA:99803)
Gene: RET
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:142623)
Gene: RET
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Gene: RET
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Retinal capillary hemangioma (HP:0009711)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Hypertensive crisis (HP:0100735)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Chest pain (HP:0100749)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Chest pain (HP:0100749)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Chest pain (HP:0100749)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: RET
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Elevated urinary vanillylmandelic acid (HP:0011978)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Gene: RET
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: RET
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: RET
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)