TaoMedAI/RareMedData huggingface dataset:
Gene: KIF5B
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: KIF5C
Phenotype: Clonic seizure (HP:0020221)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Hypertonia (HP:0001276)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Seizure (HP:0001250)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Absent speech (HP:0001344)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Small hand (HP:0200055)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Fetal onset (HP:0011461)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Microcephaly (HP:0000252)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Short foot (HP:0001773)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KIF5C
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Gene: KISS1
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA (OMIM:614842)
Gene: KISS1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1
Phenotype: Micropenis (HP:0000054)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Azoospermia (HP:0000027)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Abnormality of body height (HP:0000002)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA (OMIM:614842)
Gene: KISS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA (OMIM:614842)
Gene: KISS1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA (OMIM:614842)
Gene: KISS1
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA (OMIM:614842)
Gene: KISS1
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1
Phenotype: Sparse body hair (HP:0002231)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA (OMIM:614842)
Gene: KISS1
Phenotype: Impotence (HP:0000802)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1
Phenotype: Anxiety (HP:0000739)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Depression (HP:0000716)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: KISS1
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Osteopenia (HP:0000938)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Increased female libido (HP:0030019)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: KISS1
Phenotype: Anosmia (HP:0000458)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA (OMIM:614842)
Gene: KISS1
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA (OMIM:614842)
Gene: KISS1
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA (OMIM:614842)
Gene: KIT
Phenotype: Large hands (HP:0001176)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: KIT
Phenotype: Sporadic (HP:0003745)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: KIT
Phenotype: Sporadic (HP:0003745)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: KIT
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: PIEBALD TRAIT (OMIM:172800)
Gene: KIT
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Neoplasm of the small intestine (HP:0100833)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Syncope (HP:0001279)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: KIT
Phenotype: Hypotonia (HP:0001252)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Ataxia (HP:0001251)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Partial albinism (HP:0007443)
Associated disease: PIEBALD TRAIT (OMIM:172800)
Gene: KIT
Phenotype: Anaphylactic shock (HP:0100845)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Neoplasm of the gastrointestinal tract (HP:0007378)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: KIT
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Abnormal calvaria morphology (HP:0002683)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Azoospermia (HP:0000027)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: KIT
Phenotype: Absent pigmentation of the ventral chest (HP:0007542)
Associated disease: PIEBALD TRAIT (OMIM:172800)
Gene: KIT
Phenotype: Piebald skin depigmentation (HP:0007544)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Piebald skin depigmentation (HP:0007544)
Associated disease: PIEBALD TRAIT (OMIM:172800)
Gene: KIT
Phenotype: Neoplasm (HP:0002664)
Associated disease: PIEBALD TRAIT (OMIM:172800)
Gene: KIT
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: KIT
Phenotype: Lymphoma (HP:0002665)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: KIT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: KIT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MASTOCYTOSIS, CUTANEOUS (OMIM:154800)
Gene: KIT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PIEBALD TRAIT (OMIM:172800)
Gene: KIT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: KIT
Phenotype: Bone pain (HP:0002653)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: KIT
Phenotype: Hypotension (HP:0002615)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: KIT
Phenotype: Hypotension (HP:0002615)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Hyperpigmented papule (HP:0025473)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Granulocytic hyperplasia (HP:0012138)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: KIT
Phenotype: Flushing (HP:0031284)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: KIT
Phenotype: Flushing (HP:0031284)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Telangiectasia macularis eruptiva perstans (HP:0007583)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Telangiectasia macularis eruptiva perstans (HP:0007583)
Associated disease: MASTOCYTOSIS, CUTANEOUS (OMIM:154800)
Gene: KIT
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: KIT
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: KIT
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: KIT
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: KIT
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Nausea (HP:0002018)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: KIT
Phenotype: Nausea (HP:0002018)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Constipation (HP:0002019)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Constipation (HP:0002019)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: KIT
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: KIT
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Myalgia (HP:0003326)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: KIT
Phenotype: Diarrhea (HP:0002014)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: KIT
Phenotype: Diarrhea (HP:0002014)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Dysphagia (HP:0002015)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Dysphagia (HP:0002015)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: KIT
Phenotype: Vomiting (HP:0002013)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: KIT
Phenotype: Dyspnea (HP:0002094)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Abnormal mast cell morphology (HP:0100494)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: KIT
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: KIT
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)