TaoMedAI/RareMedData huggingface dataset:
Gene: CNOT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Premature birth (HP:0001622)
Associated disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Gene: CNOT1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Gene: CNOT1
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: CNOT1
Phenotype: Hypoxemia (HP:0012418)
Associated disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Gene: SNRNP200
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SNRNP200
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SNRNP200
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 33 (OMIM:610359)
Gene: SNRNP200
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SNRNP200
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SNRNP200
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SNRNP200
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SNRNP200
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 33 (OMIM:610359)
Gene: SNRNP200
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SNRNP200
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SNRNP200
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SNRNP200
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: RETINITIS PIGMENTOSA 33 (OMIM:610359)
Gene: SNRNP200
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SNRNP200
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 33 (OMIM:610359)
Gene: SNRNP200
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 33 (OMIM:610359)
Gene: SNRNP200
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SNRNP200
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 33 (OMIM:610359)
Gene: SNRNP200
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SNRNP200
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINITIS PIGMENTOSA 33 (OMIM:610359)
Gene: SNRNP200
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SNRNP200
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SNRNP200
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 33 (OMIM:610359)
Gene: SNRNP200
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SNRNP200
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PALLD
Phenotype: Ovarian carcinoma (HP:0025318)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 (OMIM:606856)
Gene: PALLD
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Anorexia (HP:0002039)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Peritoneal abscess (HP:0100592)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Back pain (HP:0003418)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Colon cancer (HP:0003003)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Poor appetite (HP:0004396)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Jaundice (HP:0000952)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Melanoma (HP:0002861)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Functional intestinal obstruction (HP:0005249)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Extrahepatic cholestasis (HP:0012334)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 (OMIM:606856)
Gene: PALLD
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALLD
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: UNC13A
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: UNC13A
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: KDM1A
Phenotype: Tapered finger (HP:0001182)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Tapered finger (HP:0001182)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: High anterior hairline (HP:0009890)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Motor delay (HP:0001270)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Abnormal response to corticotropin releasing hormone stimulation test (HP:0031077)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Dorsocervical fat pad (HP:0025383)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Chordee (HP:0000041)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Chordee (HP:0000041)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Increased urinary cortisol level (HP:0012030)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: KDM1A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Gene: KDM1A
Phenotype: Hypospadias (HP:0000047)
Associated disease: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome; Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Gene: KDM1A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)