TaoMedAI/RareMedData huggingface dataset:
Gene: SLC26A2
Phenotype: Narrow nose (HP:0000460)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Short neck (HP:0000470)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Short neck (HP:0000470)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Short neck (HP:0000470)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Short neck (HP:0000470)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Short foot (HP:0001773)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Increased femoral anteversion (HP:0012427)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Broad foot (HP:0001769)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 (OMIM:226900)
Gene: SLC26A2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Flattened femoral epiphysis (HP:0030289)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Hypoplastic fetal nasal bone (HP:0025707)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Cataract (HP:0000518)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Cataract (HP:0000518)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLC26A2
Phenotype: Cataract (HP:0000518)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Sandal gap (HP:0001852)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Sandal gap (HP:0001852)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Sandal gap (HP:0001852)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Proptosis (HP:0000520)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Telecanthus (HP:0000506)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Glaucoma (HP:0000501)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLC26A2
Phenotype: Short toe (HP:0001831)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Visual loss (HP:0000572)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLC26A2
Phenotype: Esotropia (HP:0000565)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLC26A2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Myopia (HP:0000545)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Myopia (HP:0000545)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLC26A2
Phenotype: Myopia (HP:0000545)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: DTNA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Congenital onset (HP:0003577)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Adult onset (HP:0003581)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Palpitations (HP:0001962)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Young adult onset (HP:0011462)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Noncompaction cardiomyopathy (HP:0012817)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Chest tightness (HP:0031352)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTNA
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Gene: DTYMK
Phenotype: Limb dystonia (HP:0002451)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Death in childhood (HP:0003819)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Micropenis (HP:0000054)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Myoclonus (HP:0001336)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Status epilepticus (HP:0002133)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Clonus (HP:0002169)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Opisthotonus (HP:0002179)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Gliosis (HP:0002171)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Tube feeding (HP:0033454)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Full cheeks (HP:0000293)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Respiratory failure (HP:0002878)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Small for gestational age (HP:0001518)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Breech presentation (HP:0001623)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DTYMK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Gene: DUSP6
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: DUSP6
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA (OMIM:615269)
Gene: DUSP6
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: DUSP6
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: DUSP6
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Micropenis (HP:0000054)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: DUSP6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Azoospermia (HP:0000027)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Abnormality of body height (HP:0000002)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
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: DUSP6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: DUSP6
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Tremor (HP:0001337)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA (OMIM:615269)
Gene: DUSP6
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA (OMIM:615269)
Gene: DUSP6
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Cleft palate (HP:0000175)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Cleft palate (HP:0000175)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)