TaoMedAI/RareMedData huggingface dataset:
Gene: CDH23
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Decreased fertility in females (HP:0000868)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Decreased fertility in females (HP:0000868)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Hypertension (HP:0000822)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Hypertension (HP:0000822)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Intra-oral hyperpigmentation (HP:0010284)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Pallor (HP:0000980)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Pallor (HP:0000980)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Purpura (HP:0000979)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Thin skin (HP:0000963)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Osteopenia (HP:0000938)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Osteopenia (HP:0000938)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH23
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CDH23
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: PITUITARY ADENOMA 5, MULTIPLE TYPES (OMIM:617540)
Gene: CDH23
Phenotype: Decreased female libido (HP:0030018)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Decreased female libido (HP:0030018)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Dyspareunia (HP:0030016)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH23
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Prelingual sensorineural hearing impairment (HP:0000399)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 12 (OMIM:601386)
Gene: CDH23
Phenotype: Fatigue (HP:0012378)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Fatigue (HP:0012378)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Hemianopia (HP:0012377)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CDH23
Phenotype: Hemianopia (HP:0012377)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Hemianopia (HP:0012377)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Hearing impairment (HP:0000365)
Associated disease: USHER SYNDROME, TYPE ID (OMIM:601067)
Gene: CDH23
Phenotype: Abnormal cochlea morphology (HP:0000375)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CDH23
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Internal ophthalmoplegia (HP:0007942)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Internal ophthalmoplegia (HP:0007942)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CDH23
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: USHER SYNDROME, TYPE ID (OMIM:601067)
Gene: CDH23
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 12 (OMIM:601386)
Gene: CDH23
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CDH23
Phenotype: Abnormal pituitary gland morphology (HP:0012503)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Abnormal pituitary gland morphology (HP:0012503)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Enlarged pituitary gland (HP:0012505)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Cataract (HP:0000518)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CDH23
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: USHER SYNDROME, TYPE ID (OMIM:601067)
Gene: CDH23
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 12 (OMIM:601386)
Gene: CDH23
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH23
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CDH23
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Weight loss (HP:0001824)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Ptosis (HP:0000508)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: CDH23
Phenotype: Ptosis (HP:0000508)
Associated disease: Thyroid stimulating hormone-secreting pituitary adenoma; Thyrotroph adenoma; Pituitary thyrotrophic adenoma; TSH-secreting pituitary adenoma; TSH-oma (ORPHA:91347)
Gene: CDH23
Phenotype: Scotoma (HP:0000575)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CDH23
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH23
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: CDH23
Phenotype: Visual loss (HP:0000572)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CDH23
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH23
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MCCC2
Phenotype: Hyperleucinemia (HP:0010911)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Lethargy (HP:0001254)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Seizure (HP:0001250)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Spasticity (HP:0001257)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC2
Phenotype: Coma (HP:0001259)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Propionyl-CoA carboxylase deficiency (HP:0003353)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Vomiting (HP:0002013)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC2
Phenotype: Opisthotonus (HP:0002179)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Acute hyperammonemia (HP:0008281)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC2
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Organic aciduria (HP:0001992)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC2
Phenotype: Organic aciduria (HP:0001992)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC2
Phenotype: Abnormal circulating leucine concentration (HP:0004357)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC2
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC2
Phenotype: Hyperglycinuria (HP:0003108)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Alopecia (HP:0001596)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: MCCC2
Phenotype: Ketonuria (HP:0002919)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
Gene: POPDC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: POPDC2
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: POPDC2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: POPDC2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: POPDC2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: POPDC2
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: POPDC2
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SMOC1
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome; OAS; Microphthalmia with limb anomalies (ORPHA:1106)