TaoMedAI/RareMedData huggingface dataset:
Gene: DARS1
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Ataxia (HP:0001251)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Tethered cord (HP:0002144)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Babinski sign (HP:0003487)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Progressive (HP:0003676)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Irritability (HP:0000737)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DAZ1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ1
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ1
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: DAZ1
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: DAZ1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: DAZ1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ1
Phenotype: Male infertility (HP:0003251)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DAZ1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: DBH
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Reduced circulating dopamine beta-hydroxylase activity (HP:6000556)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Syncope (HP:0001279)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Seizure (HP:0001250)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Hypotonia (HP:0001252)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Hypotonia (HP:0001252)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Nocturia (HP:0000017)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Nocturia (HP:0000017)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Diarrhea (HP:0002014)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Vomiting (HP:0002013)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Intermittent hypothermia (HP:0005964)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Dyspnea (HP:0002094)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Hypothermia (HP:0002045)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Elevated circulating dihydroxyphenylacetic acid concentration (HP:6000234)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Congenital onset (HP:0003577)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Chest pain (HP:0100749)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Vertigo (HP:0002321)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Dehydration (HP:0001944)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Blurred vision (HP:0000622)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Anemia (HP:0001903)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Exercise-induced muscle fatigue (HP:0009020)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Orthostatic syncope (HP:0012670)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Retrograde ejaculation (HP:0012877)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Retrograde ejaculation (HP:0012877)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Lack of pupillary response to hydroxyamphetamine (HP:6000994)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: High palate (HP:0000218)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Fatigue (HP:0012378)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Rhinitis (HP:0012384)
Associated disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Gene: DBH
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Nasal congestion (HP:0001742)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBH
Phenotype: Ptosis (HP:0000508)
Associated disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Gene: DBT
Phenotype: Lethargy (HP:0001254)
Associated disease: MAPLE SYRUP URINE DISEASE, TYPE II (OMIM:620699)
Gene: DBT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MAPLE SYRUP URINE DISEASE, TYPE II (OMIM:620699)
Gene: DBT
Phenotype: Opisthotonus (HP:0002179)
Associated disease: MAPLE SYRUP URINE DISEASE, TYPE II (OMIM:620699)
Gene: DBT
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MAPLE SYRUP URINE DISEASE, TYPE II (OMIM:620699)
Gene: DBT
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: MAPLE SYRUP URINE DISEASE, TYPE II (OMIM:620699)
Gene: DBT
Phenotype: Childhood onset (HP:0011463)
Associated disease: MAPLE SYRUP URINE DISEASE, TYPE II (OMIM:620699)
Gene: DCC
Phenotype: Abnormal corticospinal tract morphology (HP:0002492)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DCC
Phenotype: Dysgenesis of the hippocampus (HP:0025101)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DCC
Phenotype: Duane anomaly (HP:0009921)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: DCC
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DCC
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MIRROR MOVEMENTS 1 (OMIM:157600)
Gene: DCC
Phenotype: Hemiparesis (HP:0001269)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MIRROR MOVEMENTS 1 (OMIM:157600)
Gene: DCC
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DCC
Phenotype: Seizure (HP:0001250)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: DCC
Phenotype: Seizure (HP:0001250)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Hypotonia (HP:0001252)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: DCC
Phenotype: Hypotonia (HP:0001252)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Absent hippocampal commissure (HP:0033646)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Midline brainstem cleft (HP:0033645)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MIRROR MOVEMENTS 1 (OMIM:157600)
Gene: DCC
Phenotype: Interhemispheric cyst (HP:0032327)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DCC
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DCC
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DCC
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: MIRROR MOVEMENTS 1 (OMIM:157600)
Gene: DCC
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Tremor (HP:0001337)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: DCC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MIRROR MOVEMENTS 1 (OMIM:157600)
Gene: DCC
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Scoliosis (HP:0002650)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: DCC
Phenotype: Scoliosis (HP:0002650)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Cleft palate (HP:0000175)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:617542)
Gene: DCC
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: DCC
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: ESOPHAGEAL CANCER (OMIM:133239)
Gene: DCC
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DCC
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: DCC
Phenotype: Myalgia (HP:0003326)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)
Gene: DCC
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: DCC
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Hereditary congenital controlateral synkinesia; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements; Familial congenital mirror movements; Hereditary congenital mirror movements; Familial congenital controlateral synkinesia (ORPHA:238722)