TaoMedAI/RareMedData huggingface dataset:
Gene: COG1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: High palate (HP:0000218)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: High palate (HP:0000218)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Long philtrum (HP:0000343)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Broad neck (HP:0000475)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Short neck (HP:0000470)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Short foot (HP:0001773)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Posterior rib gap (HP:0030282)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Posterior rib gap (HP:0030282)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Proptosis (HP:0000520)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: HS6ST1
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: HS6ST1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA (OMIM:614880)
Gene: HS6ST1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: HS6ST1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: HS6ST1
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA (OMIM:614880)
Gene: HS6ST1
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Micropenis (HP:0000054)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: HS6ST1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA (OMIM:614880)
Gene: HS6ST1
Phenotype: Azoospermia (HP:0000027)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Abnormality of body height (HP:0000002)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
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: HS6ST1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: HS6ST1
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Tremor (HP:0001337)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA (OMIM:614880)
Gene: HS6ST1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Cleft palate (HP:0000175)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Cleft palate (HP:0000175)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA (OMIM:614880)
Gene: HS6ST1
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Paraplegia (HP:0010550)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: HS6ST1
Phenotype: Sparse body hair (HP:0002231)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: HS6ST1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: HS6ST1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Impotence (HP:0000802)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: HS6ST1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Anxiety (HP:0000739)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Depression (HP:0000716)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: HS6ST1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)