TaoMedAI/RareMedData huggingface dataset:
Gene: MAX
Phenotype: Dysphonia (HP:0001618)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Tachycardia (HP:0001649)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Cataract (HP:0000518)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Developmental cataract (HP:0000519)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Aniridia (HP:0000526)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Weight loss (HP:0001824)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Microphthalmia (HP:0000568)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MB
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYOPATHY, SARCOPLASMIC BODY (OMIM:620286)
Gene: MB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, SARCOPLASMIC BODY (OMIM:620286)
Gene: MB
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: MYOPATHY, SARCOPLASMIC BODY (OMIM:620286)
Gene: MB
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MYOPATHY, SARCOPLASMIC BODY (OMIM:620286)
Gene: MB
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: MYOPATHY, SARCOPLASMIC BODY (OMIM:620286)
Gene: MB
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYOPATHY, SARCOPLASMIC BODY (OMIM:620286)
Gene: MB
Phenotype: Adult onset (HP:0003581)
Associated disease: MYOPATHY, SARCOPLASMIC BODY (OMIM:620286)
Gene: MB
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY, SARCOPLASMIC BODY (OMIM:620286)
Gene: MB
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY, SARCOPLASMIC BODY (OMIM:620286)
Gene: MB
Phenotype: Sarcoplasmic bodies (HP:0034722)
Associated disease: MYOPATHY, SARCOPLASMIC BODY (OMIM:620286)
Gene: MB
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: MYOPATHY, SARCOPLASMIC BODY (OMIM:620286)
Gene: MB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, SARCOPLASMIC BODY (OMIM:620286)
Gene: MB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYOPATHY, SARCOPLASMIC BODY (OMIM:620286)
Gene: MB
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYOPATHY, SARCOPLASMIC BODY (OMIM:620286)
Gene: MBL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MANNOSE-BINDING LECTIN DEFICIENCY (OMIM:614372)
Gene: MBL2
Phenotype: Recurrent Klebsiella infections (HP:0002742)
Associated disease: MANNOSE-BINDING LECTIN DEFICIENCY (OMIM:614372)
Gene: MBL2
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: MANNOSE-BINDING LECTIN DEFICIENCY (OMIM:614372)
Gene: MBL2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MANNOSE-BINDING LECTIN DEFICIENCY (OMIM:614372)
Gene: MBL2
Phenotype: Recurrent meningococcal disease (HP:0005381)
Associated disease: MANNOSE-BINDING LECTIN DEFICIENCY (OMIM:614372)
Gene: MBL2
Phenotype: Recurrent herpes (HP:0005353)
Associated disease: MANNOSE-BINDING LECTIN DEFICIENCY (OMIM:614372)
Gene: MBL2
Phenotype: Disseminated cryptosporidium infection (HP:0031699)
Associated disease: MANNOSE-BINDING LECTIN DEFICIENCY (OMIM:614372)
Gene: MC1R
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Nevus (HP:0003764)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MC1R
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Hyperpigmented nevi (HP:0007481)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: MC1R
Phenotype: Freckles in sun-exposed areas (HP:0007603)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: MC1R
Phenotype: Freckling (HP:0001480)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MC1R
Phenotype: Freckling (HP:0001480)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: MC1R
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MC1R
Phenotype: White eyelashes (HP:0002227)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: White eyebrow (HP:0002226)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MC1R
Phenotype: Red hair (HP:0002297)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: MC1R
Phenotype: Absent skin pigmentation (HP:0200098)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: MC1R
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Albinism (HP:0001022)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: MC1R
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: MC1R
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Nystagmus (HP:0000639)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Nystagmus (HP:0000639)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: MC1R
Phenotype: Blue irides (HP:0000635)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: MC1R
Phenotype: Blue irides (HP:0000635)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Photophobia (HP:0000613)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: White hair (HP:0011364)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MC1R
Phenotype: Iris transillumination defect (HP:0012805)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Posterior staphyloma (HP:0030856)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Dry skin (HP:0000958)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MC1R
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MC1R
Phenotype: Optic nerve misrouting (HP:0025551)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: MC1R
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MC1R
Phenotype: Melanoma (HP:0002861)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MC1R
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: MC1R
Phenotype: Macular hypopigmentation (HP:0007988)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Strabismus (HP:0000486)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: MC1R
Phenotype: Retinopathy (HP:0000488)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MC1R
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MC1R
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Visual impairment (HP:0000505)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: MC1R
Phenotype: Exotropia (HP:0000577)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: MC1R
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Gene: MC1R
Phenotype: Myopia (HP:0000545)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Gene: MC2R
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Seizure (HP:0001250)
Associated disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Gene: MC2R
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Coma (HP:0001259)
Associated disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Gene: MC2R
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Gene: MC2R
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Abnormal response to ACTH stimulation test (HP:0031074)
Associated disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Gene: MC2R
Phenotype: Impaired cortisol response to insulin stimulation test (HP:0031076)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Tall stature (HP:0000098)
Associated disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Gene: MC2R
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Azoospermia (HP:0000027)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Gene: MC2R
Phenotype: Hypotension (HP:0002615)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Testicular adrenal rest tumor (HP:0025451)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Decreased circulating dehydroepiandrosterone concentration (HP:0031214)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Recurrent infections (HP:0002719)
Associated disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Gene: MC2R
Phenotype: Constipation (HP:0002019)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Diarrhea (HP:0002014)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Vomiting (HP:0002013)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Anorexia (HP:0002039)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Gene: MC2R
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Congenital onset (HP:0003577)
Associated disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Gene: MC2R
Phenotype: Leydig cell neoplasia (HP:0100618)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Hypernatriuria (HP:0012605)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Gene: MC2R
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Gene: MC2R
Phenotype: Ketotic hypoglycemia (HP:0012734)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Gene: MC2R
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Abnormal circulating renin concentration (HP:0040084)
Associated disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Gene: MC2R
Phenotype: Abnormal circulating aldosterone concentration (HP:0040085)
Associated disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Gene: MC2R
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Gene: MC2R
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GLUCOCORTICOID DEFICIENCY 1 (OMIM:202200)
Gene: MC2R
Phenotype: Abnormal circulating adrenocorticotropin concentration (HP:0011043)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC2R
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: MC4R
Phenotype: Polyphagia (HP:0002591)
Associated disease: Obesity due to melanocortin 4 receptor deficiency; MC4R deficiency (ORPHA:71529)
Gene: MC4R
Phenotype: Polyphagia (HP:0002591)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 (OMIM:618406)
Gene: MC4R
Phenotype: Tall stature (HP:0000098)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 (OMIM:618406)
Gene: MC4R
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 (OMIM:618406)
Gene: MC4R
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 (OMIM:618406)
Gene: MC4R
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: Obesity due to melanocortin 4 receptor deficiency; MC4R deficiency (ORPHA:71529)
Gene: MC4R
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Obesity due to melanocortin 4 receptor deficiency; MC4R deficiency (ORPHA:71529)
Gene: MC4R
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Obesity due to melanocortin 4 receptor deficiency; MC4R deficiency (ORPHA:71529)
Gene: MC4R
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Obesity due to melanocortin 4 receptor deficiency; MC4R deficiency (ORPHA:71529)
Gene: MC4R
Phenotype: Increased adipose tissue (HP:0009126)
Associated disease: Obesity due to melanocortin 4 receptor deficiency; MC4R deficiency (ORPHA:71529)
Gene: MC4R
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Obesity due to melanocortin 4 receptor deficiency; MC4R deficiency (ORPHA:71529)
Gene: MC4R
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 (OMIM:618406)
Gene: MC4R
Phenotype: Hypertension (HP:0000822)
Associated disease: Obesity due to melanocortin 4 receptor deficiency; MC4R deficiency (ORPHA:71529)
Gene: MC4R
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Obesity due to melanocortin 4 receptor deficiency; MC4R deficiency (ORPHA:71529)
Gene: MC4R
Phenotype: Obesity (HP:0001513)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 (OMIM:618406)
Gene: MC4R
Phenotype: Obesity (HP:0001513)
Associated disease: Obesity due to melanocortin 4 receptor deficiency; MC4R deficiency (ORPHA:71529)
Gene: MC4R
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 (OMIM:618406)
Gene: MCC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: MCC
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: MCC
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: MCC
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: MCC
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: MCC
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: MCC
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CHST6
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: MACULAR DYSTROPHY, CORNEAL (OMIM:217800)
Gene: CHST6
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Macular corneal dystrophy; Corneal dystrophy Groenouw type II; Fehr corneal dystrophy; MCD (ORPHA:98969)
Gene: CHST6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MACULAR DYSTROPHY, CORNEAL (OMIM:217800)
Gene: CHST6
Phenotype: Decreased corneal sensation (HP:0012155)
Associated disease: Macular corneal dystrophy; Corneal dystrophy Groenouw type II; Fehr corneal dystrophy; MCD (ORPHA:98969)
Gene: CHST6
Phenotype: Ocular pain (HP:0200026)
Associated disease: Macular corneal dystrophy; Corneal dystrophy Groenouw type II; Fehr corneal dystrophy; MCD (ORPHA:98969)
Gene: CHST6
Phenotype: Decreased corneal thickness (HP:0100689)
Associated disease: Macular corneal dystrophy; Corneal dystrophy Groenouw type II; Fehr corneal dystrophy; MCD (ORPHA:98969)
Gene: CHST6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MACULAR DYSTROPHY, CORNEAL (OMIM:217800)
Gene: CHST6
Phenotype: Photophobia (HP:0000613)
Associated disease: Macular corneal dystrophy; Corneal dystrophy Groenouw type II; Fehr corneal dystrophy; MCD (ORPHA:98969)
Gene: CHST6
Phenotype: Photophobia (HP:0000613)
Associated disease: MACULAR DYSTROPHY, CORNEAL (OMIM:217800)
Gene: CHST6
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Macular corneal dystrophy; Corneal dystrophy Groenouw type II; Fehr corneal dystrophy; MCD (ORPHA:98969)
Gene: CHST6
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: MACULAR DYSTROPHY, CORNEAL (OMIM:217800)
Gene: CHST6
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Macular corneal dystrophy; Corneal dystrophy Groenouw type II; Fehr corneal dystrophy; MCD (ORPHA:98969)
Gene: CHST6
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: MACULAR DYSTROPHY, CORNEAL (OMIM:217800)
Gene: CHST6
Phenotype: Punctate opacification of the cornea (HP:0007856)
Associated disease: Macular corneal dystrophy; Corneal dystrophy Groenouw type II; Fehr corneal dystrophy; MCD (ORPHA:98969)
Gene: CHST6
Phenotype: Punctate opacification of the cornea (HP:0007856)
Associated disease: MACULAR DYSTROPHY, CORNEAL (OMIM:217800)
Gene: CHST6
Phenotype: Hyperopic astigmatism (HP:0000484)
Associated disease: Macular corneal dystrophy; Corneal dystrophy Groenouw type II; Fehr corneal dystrophy; MCD (ORPHA:98969)
Gene: CHST6
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: MACULAR DYSTROPHY, CORNEAL (OMIM:217800)
Gene: CHST6
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: Macular corneal dystrophy; Corneal dystrophy Groenouw type II; Fehr corneal dystrophy; MCD (ORPHA:98969)
Gene: CHST6
Phenotype: Corneal crystals (HP:0000531)
Associated disease: Macular corneal dystrophy; Corneal dystrophy Groenouw type II; Fehr corneal dystrophy; MCD (ORPHA:98969)
Gene: MCM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 70 (OMIM:616968)
Gene: MCM2
Phenotype: Adult onset (HP:0003581)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 70 (OMIM:616968)
Gene: MCM2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 70 (OMIM:616968)
Gene: MCM2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 70 (OMIM:616968)
Gene: MCM2
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 70 (OMIM:616968)