TaoMedAI/RareMedData huggingface dataset:
Gene: SBF2
Phenotype: Pes cavus (HP:0001761)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Cataract (HP:0000518)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Ptosis (HP:0000508)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Glaucoma (HP:0000501)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Gene: SBF2
Phenotype: Glaucoma (HP:0000501)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SBF2
Phenotype: Buphthalmos (HP:0000557)
Associated disease: CMT4B2; Charcot-Marie-Tooth disease type 4B2 (ORPHA:99956)
Gene: SPRY4
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SPRY4
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA (OMIM:615266)
Gene: SPRY4
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SPRY4
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SPRY4
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Micropenis (HP:0000054)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SPRY4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Azoospermia (HP:0000027)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Abnormality of body height (HP:0000002)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
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: SPRY4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SPRY4
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Tremor (HP:0001337)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA (OMIM:615266)
Gene: SPRY4
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA (OMIM:615266)
Gene: SPRY4
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Cleft palate (HP:0000175)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Cleft palate (HP:0000175)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Paraplegia (HP:0010550)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SPRY4
Phenotype: Sparse body hair (HP:0002231)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SPRY4
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SPRY4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Impotence (HP:0000802)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Gynecomastia (HP:0000771)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SPRY4
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Anxiety (HP:0000739)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Depression (HP:0000716)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SPRY4
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SPRY4
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Hyposmia (HP:0004409)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA (OMIM:615266)
Gene: SPRY4
Phenotype: Hyposmia (HP:0004409)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SPRY4
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Osteoporosis (HP:0000939)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Osteopenia (HP:0000938)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA (OMIM:615266)
Gene: SPRY4
Phenotype: Osteopenia (HP:0000938)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Increased female libido (HP:0030019)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Obesity (HP:0001513)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Camptodactyly (HP:0012385)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA (OMIM:615266)
Gene: SPRY4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: SPRY4
Phenotype: Anosmia (HP:0000458)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Pes planus (HP:0001763)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Pes cavus (HP:0001761)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Ptosis (HP:0000508)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SPRY4
Phenotype: Color vision defect (HP:0000551)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: MED25
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Poor speech (HP:0002465)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Gene: MED25
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Gene: MED25
Phenotype: Seizure (HP:0001250)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Seizure (HP:0001250)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Hypotonia (HP:0001252)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Hypotonia (HP:0001252)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Gene: MED25
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Spasticity (HP:0001257)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Spasticity (HP:0001257)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Nevus flammeus of the forehead (HP:0007413)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Nevus flammeus of the forehead (HP:0007413)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Inability to walk (HP:0002540)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Hypospadias (HP:0000047)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Hypospadias (HP:0000047)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Absent speech (HP:0001344)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Gene: MED25
Phenotype: Scoliosis (HP:0002650)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Scoliosis (HP:0002650)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Cleft palate (HP:0000175)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Cleft palate (HP:0000175)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Constipation (HP:0002019)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)