TaoMedAI/RareMedData huggingface dataset:
Gene: AR
Phenotype: Hypospadias (HP:0000047)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068)
Gene: AR
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: X-linked bulbospinal muscular atrophy; X-linked BSMA; SMAX1; Kennedy disease; SBMA; X-linked bulbospinal amyotrophy; X-linked spinal and bulbar muscular atrophy (ORPHA:481)
Gene: AR
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)
Gene: AR
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: AR
Phenotype: Azoospermia (HP:0000027)
Associated disease: ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)
Gene: AR
Phenotype: Azoospermia (HP:0000027)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Neoplasm (HP:0002664)
Associated disease: ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068)
Gene: AR
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Tremor (HP:0001337)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Increased circulating antimullerian hormone concentration (HP:0031102)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Increased circulating antimullerian hormone concentration (HP:0031102)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Fused labia majora (HP:0025486)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Cleft palate (HP:0000175)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: AR
Phenotype: Decreased fertility (HP:0000144)
Associated disease: X-linked bulbospinal muscular atrophy; X-linked BSMA; SMAX1; Kennedy disease; SBMA; X-linked bulbospinal amyotrophy; X-linked spinal and bulbar muscular atrophy (ORPHA:481)
Gene: AR
Phenotype: Decreased fertility (HP:0000144)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Prostate cancer (HP:0012125)
Associated disease:  (OMIM:301120)
Gene: AR
Phenotype: Hypogonadism (HP:0000135)
Associated disease: ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)
Gene: AR
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)
Gene: AR
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: HYPOSPADIAS 1, X-LINKED (OMIM:300633)
Gene: AR
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068)
Gene: AR
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: X-linked inheritance (HP:0001417)
Associated disease:  (OMIM:301120)
Gene: AR
Phenotype: Anal atresia (HP:0002023)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: AR
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: AR
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Blind vagina (HP:0040314)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Blind vagina (HP:0040314)
Associated disease: ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068)
Gene: AR
Phenotype: Blind vagina (HP:0040314)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: X-linked bulbospinal muscular atrophy; X-linked BSMA; SMAX1; Kennedy disease; SBMA; X-linked bulbospinal amyotrophy; X-linked spinal and bulbar muscular atrophy (ORPHA:481)
Gene: AR
Phenotype: Muscle spasm (HP:0003394)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Insulin insensitivity (HP:0008189)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Aplasia of the ovary (HP:0010463)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068)
Gene: AR
Phenotype: Androgen insufficiency (HP:0008226)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: AR
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOSPADIAS 1, X-LINKED (OMIM:300633)
Gene: AR
Phenotype: Adult onset (HP:0003581)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Absent axillary hair (HP:0002221)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068)
Gene: AR
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068)
Gene: AR
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Germ cell neoplasia (HP:0100728)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Germ cell neoplasia (HP:0100728)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068)
Gene: AR
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Fasciculations (HP:0002380)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Acne (HP:0001061)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: AR
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: X-linked bulbospinal muscular atrophy; X-linked BSMA; SMAX1; Kennedy disease; SBMA; X-linked bulbospinal amyotrophy; X-linked spinal and bulbar muscular atrophy (ORPHA:481)
Gene: AR
Phenotype: Testicular neoplasm (HP:0010788)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Gynecomastia (HP:0000771)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Gynecomastia (HP:0000771)
Associated disease: ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068)
Gene: AR
Phenotype: Gynecomastia (HP:0000771)
Associated disease: ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)
Gene: AR
Phenotype: Gynecomastia (HP:0000771)
Associated disease: X-linked bulbospinal muscular atrophy; X-linked BSMA; SMAX1; Kennedy disease; SBMA; X-linked bulbospinal amyotrophy; X-linked spinal and bulbar muscular atrophy (ORPHA:481)
Gene: AR
Phenotype: Gynecomastia (HP:0000771)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: X-linked bulbospinal muscular atrophy; X-linked BSMA; SMAX1; Kennedy disease; SBMA; X-linked bulbospinal amyotrophy; X-linked spinal and bulbar muscular atrophy (ORPHA:481)
Gene: AR
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Anxiety (HP:0000739)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: AR
Phenotype: Depression (HP:0000716)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: AR
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: AR
Phenotype: Infertility (HP:0000789)
Associated disease: ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)
Gene: AR
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068)
Gene: AR
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: X-linked bulbospinal muscular atrophy; X-linked BSMA; SMAX1; Kennedy disease; SBMA; X-linked bulbospinal amyotrophy; X-linked spinal and bulbar muscular atrophy (ORPHA:481)
Gene: AR
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: AR
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Abnormal uterine cervix morphology (HP:0012888)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)
Gene: AR
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Gene: AR
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: X-linked bulbospinal muscular atrophy; X-linked BSMA; SMAX1; Kennedy disease; SBMA; X-linked bulbospinal amyotrophy; X-linked spinal and bulbar muscular atrophy (ORPHA:481)
Gene: AR
Phenotype: Male infertility (HP:0003251)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Male infertility (HP:0003251)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Increased serum testosterone level (HP:0030088)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Increased serum testosterone level (HP:0030088)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: AR
Phenotype: Abnormal rib cage morphology (HP:0001547)
Associated disease: ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)
Gene: AR
Phenotype: Omphalocele (HP:0001539)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: AR
Phenotype: Growth abnormality (HP:0001507)
Associated disease: ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068)
Gene: AR
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: AR
Phenotype: Dysphonia (HP:0001618)
Associated disease: X-linked bulbospinal muscular atrophy; X-linked BSMA; SMAX1; Kennedy disease; SBMA; X-linked bulbospinal amyotrophy; X-linked spinal and bulbar muscular atrophy (ORPHA:481)
Gene: AR
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: PAIS; Partial androgen insensitivity syndrome; Partial androgen resistance syndrome (ORPHA:90797)
Gene: AR
Phenotype: Ventral shortening of foreskin (HP:0012435)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: AR
Phenotype: Abnormal circulating follicle-stimulating hormone concentration (HP:0030346)
Associated disease: Complete androgen resistance syndrome; CAIS; Complete androgen insensitivity syndrome (ORPHA:99429)
Gene: ABCC6
Phenotype: Fetal distress (HP:0025116)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Fetal distress (HP:0025116)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Civatte bodies (HP:0025115)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCC6
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Angioid streaks of the fundus (HP:0001102)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Angioid streaks of the fundus (HP:0001102)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Angioid streaks of the fundus (HP:0001102)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Angioid streaks of the fundus (HP:0001102)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Stroke (HP:0001297)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Stroke (HP:0001297)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Stroke (HP:0001297)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Seizure (HP:0001250)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Stippled calcification of the shoulder (HP:0003836)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Ankylosis (HP:0031013)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Abnormal hip joint morphology (HP:0001384)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Gene: ABCC6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCC6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Arteriosclerosis (HP:0002634)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Scoliosis (HP:0002650)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Stippled calcification of the elbow (HP:0003941)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Hyperpigmented papule (HP:0025473)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Periarticular calcification (HP:0025477)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Periarticular calcification (HP:0025477)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCC6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCC6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: High, narrow palate (HP:0002705)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Gene: ABCC6
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Weak pulse (HP:0032553)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Weak pulse (HP:0032553)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Osteomalacia (HP:0002749)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)