TaoMedAI/RareMedData huggingface dataset:
Gene: NTNG2
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Floppy infant (HP:0008947)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Drooling (HP:0002307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Paroxysmal bursts of laughter (HP:0000749)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Esotropia (HP:0000565)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: SLITRK2
Phenotype: Hippocampal atrophy (HP:0410170)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Spasticity (HP:0001257)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Dystonia (HP:0001332)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Absent speech (HP:0001344)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Phonic tics (HP:0100035)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Anxiety (HP:0000739)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: SLITRK2
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Gene: KISS1R
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Gene: KISS1R
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1R
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Gene: KISS1R
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1R
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Gene: KISS1R
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1R
Phenotype: Micropenis (HP:0000054)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1R
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Gene: KISS1R
Phenotype: Azoospermia (HP:0000027)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Azoospermia (HP:0000027)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Gene: KISS1R
Phenotype: Abnormality of body height (HP:0000002)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Gene: KISS1R
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1R
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Gene: KISS1R
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PRECOCIOUS PUBERTY, CENTRAL, 1 (OMIM:176400)
Gene: KISS1R
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Cleft palate (HP:0000175)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Gene: KISS1R
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Gene: KISS1R
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PRECOCIOUS PUBERTY, CENTRAL, 1 (OMIM:176400)
Gene: KISS1R
Phenotype: Isosexual precocious puberty (HP:0008236)
Associated disease: PRECOCIOUS PUBERTY, CENTRAL, 1 (OMIM:176400)
Gene: KISS1R
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1R
Phenotype: Sparse body hair (HP:0002231)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1R
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: PRECOCIOUS PUBERTY, CENTRAL, 1 (OMIM:176400)
Gene: KISS1R
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1R
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Gene: KISS1R
Phenotype: Short stature (HP:0004322)
Associated disease: PRECOCIOUS PUBERTY, CENTRAL, 1 (OMIM:176400)
Gene: KISS1R
Phenotype: Impotence (HP:0000802)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Gynecomastia (HP:0000771)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Gene: KISS1R
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1R
Phenotype: Anxiety (HP:0000739)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Depression (HP:0000716)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1R
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Gene: KISS1R
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1R
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1R
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: PRECOCIOUS PUBERTY, CENTRAL, 1 (OMIM:176400)
Gene: KISS1R
Phenotype: Delayed puberty (HP:0000823)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Osteoporosis (HP:0000939)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Osteopenia (HP:0000938)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Gene: KISS1R
Phenotype: Osteopenia (HP:0000938)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Increased female libido (HP:0030019)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Camptodactyly (HP:0012385)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Hypertelorism (HP:0000316)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1R
Phenotype: Anosmia (HP:0000458)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Gene: KISS1R
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Gene: KISS1R
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Gene: GLYR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GLYR1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GLYR1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GLYR1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GLYR1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GLYR1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CCDC62
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 67 (OMIM:619803)
Gene: CCDC62
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 67 (OMIM:619803)
Gene: CCDC62
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 67 (OMIM:619803)
Gene: CCDC62
Phenotype: Globozoospermia (HP:0012205)
Associated disease: SPERMATOGENIC FAILURE 67 (OMIM:619803)
Gene: GLIS2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHRONOPHTHISIS 7 (OMIM:611498)
Gene: GLIS2
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: NEPHRONOPHTHISIS 7 (OMIM:611498)
Gene: GLIS2
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: NEPHRONOPHTHISIS 7 (OMIM:611498)
Gene: GLIS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHRONOPHTHISIS 7 (OMIM:611498)
Gene: MYPN
Phenotype: Bulbar signs (HP:0002483)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYPN
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Poor head control (HP:0002421)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Stroke (HP:0001297)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Motor delay (HP:0001270)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Motor delay (HP:0001270)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Areflexia (HP:0001284)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Syncope (HP:0001279)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Waddling gait (HP:0002515)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Waddling gait (HP:0002515)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)