TaoMedAI/RareMedData huggingface dataset:
Gene: C2CD3
Phenotype: Broad hallux (HP:0010055)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Natal tooth (HP:0000695)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Short ribs (HP:0000773)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Bifid tongue (HP:0010297)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Bifid tongue (HP:0010297)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Microcephaly (HP:0000252)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Microcephaly (HP:0000252)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Low-set ears (HP:0000369)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Sloping forehead (HP:0000340)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Micrognathia (HP:0000347)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Microretrognathia (HP:0000308)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Microretrognathia (HP:0000308)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Short neck (HP:0000470)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Webbed neck (HP:0000465)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Bulbous nose (HP:0000414)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Telecanthus (HP:0000506)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Telecanthus (HP:0000506)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Unilateral renal hypoplasia (HP:0012583)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: OFD14; Orofaciodigital syndrome type 14; Oral-facial-digital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome (ORPHA:434179)
Gene: C2CD3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: C2CD3
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Gene: TKFC
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: TKFC
Phenotype: Motor delay (HP:0001270)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Broad-based gait (HP:0002136)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: TKFC
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Myopathy (HP:0003198)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: TKFC
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: TKFC
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: TKFC
Phenotype: Reduced systolic function (HP:0006673)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Pancreatitis (HP:0001733)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: TKFC
Phenotype: Cataract (HP:0000518)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: TKFC
Phenotype: Cataract (HP:0000518)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: TKFC
Phenotype: Glaucoma (HP:0000501)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: TKFC
Phenotype: Microphthalmia (HP:0000568)
Associated disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Gene: TKFC
Phenotype: Myopia (HP:0000545)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: TENM4
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)
Gene: TENM4
Phenotype: Typified by age-related disease onset (HP:0003831)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)
Gene: TENM4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)
Gene: TENM4
Phenotype: Intention tremor (HP:0002080)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)
Gene: TENM4
Phenotype: Bradykinesia (HP:0002067)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)
Gene: TENM4
Phenotype: Postural tremor (HP:0002174)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)
Gene: TENM4
Phenotype: Middle age onset (HP:0003596)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)
Gene: TENM4
Phenotype: Late onset (HP:0003584)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)
Gene: TENM4
Phenotype: Slowly progressive (HP:0003677)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)
Gene: TENM4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)
Gene: TENM4
Phenotype: Tongue tremor (HP:0031947)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)
Gene: TENM4
Phenotype: Childhood onset (HP:0011463)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)
Gene: TENM4
Phenotype: Young adult onset (HP:0011462)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)
Gene: TENM4
Phenotype: Kinetic tremor (HP:0030186)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)
Gene: NSMF
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Duane anomaly (HP:0009921)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA (OMIM:614838)
Gene: NSMF
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA (OMIM:614838)
Gene: NSMF
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: NSMF
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA (OMIM:614838)
Gene: NSMF
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: NSMF
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA (OMIM:614838)
Gene: NSMF
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: NSMF
Phenotype: Micropenis (HP:0000054)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: NSMF
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Azoospermia (HP:0000027)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Abnormality of body height (HP:0000002)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: NSMF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA (OMIM:614838)
Gene: NSMF
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Cleft palate (HP:0000175)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Cleft palate (HP:0000175)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA (OMIM:614838)
Gene: NSMF
Phenotype: Cleft lip (HP:0410030)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA (OMIM:614838)
Gene: NSMF
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Bifid nose (HP:0011803)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA (OMIM:614838)
Gene: NSMF
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: NSMF
Phenotype: Sparse body hair (HP:0002231)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: NSMF
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: NSMF
Phenotype: Impotence (HP:0000802)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Gynecomastia (HP:0000771)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA (OMIM:614838)
Gene: NSMF
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: NSMF
Phenotype: Anxiety (HP:0000739)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Depression (HP:0000716)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: NSMF
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: NSMF
Phenotype: Hyposmia (HP:0004409)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA (OMIM:614838)
Gene: NSMF
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: NSMF
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Delayed puberty (HP:0000823)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA (OMIM:614838)
Gene: NSMF
Phenotype: Osteoporosis (HP:0000939)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Osteopenia (HP:0000938)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Clinodactyly (HP:0030084)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA (OMIM:614838)
Gene: NSMF
Phenotype: Increased female libido (HP:0030019)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Camptodactyly (HP:0012385)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: NSMF
Phenotype: Anosmia (HP:0000458)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA (OMIM:614838)
Gene: TMEM98
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NANOPHTHALMOS 4 (OMIM:615972)