TaoMedAI/RareMedData huggingface dataset:
Gene: KIT
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: PIEBALD TRAIT (OMIM:172800)
Gene: KIT
Phenotype: White eyelashes (HP:0002227)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: White eyebrow (HP:0002226)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: White forelock (HP:0002211)
Associated disease: PIEBALD TRAIT (OMIM:172800)
Gene: KIT
Phenotype: White forelock (HP:0002211)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Choriocarcinoma (HP:0100768)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: KIT
Phenotype: Cutaneous mastocytosis (HP:0200151)
Associated disease: Infiltrative small vesicular DCM; Pseudoxanthomatous DCM; Pseudoxanthomatous diffuse cutaneous mastocytosis; Infiltrative small vesicular diffuse cutaneous mastocytosis (ORPHA:280794)
Gene: KIT
Phenotype: Cutaneous mastocytosis (HP:0200151)
Associated disease: Bullous diffuse cutaneous mastocytosis; Bullous DCM (ORPHA:280785)
Gene: KIT
Phenotype: Cutaneous mastocytosis (HP:0200151)
Associated disease: MASTOCYTOSIS, CUTANEOUS (OMIM:154800)
Gene: KIT
Phenotype: Gastrointestinal stroma tumor (HP:0100723)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: KIT
Phenotype: Gastrointestinal stroma tumor (HP:0100723)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Esophageal neoplasm (HP:0100751)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Dermatographic urticaria (HP:0011971)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: KIT
Phenotype: Acute myeloid leukemia (HP:0004808)
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: Hypopigmented skin patches (HP:0001053)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Neurofibroma (HP:0001067)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: KIT
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: MASTOCYTOSIS, CUTANEOUS (OMIM:154800)
Gene: KIT
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Urticaria (HP:0001025)
Associated disease: Bullous diffuse cutaneous mastocytosis; Bullous DCM (ORPHA:280785)
Gene: KIT
Phenotype: Urticaria (HP:0001025)
Associated disease: MASTOCYTOSIS, CUTANEOUS (OMIM:154800)
Gene: KIT
Phenotype: Urticaria (HP:0001025)
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: Urticaria (HP:0001025)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: KIT
Phenotype: Erythroderma (HP:0001019)
Associated disease: Bullous diffuse cutaneous mastocytosis; Bullous DCM (ORPHA:280785)
Gene: KIT
Phenotype: Headache (HP:0002315)
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: Headache (HP:0002315)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Skin nodule (HP:0200036)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Skin plaque (HP:0200035)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Darier's sign (HP:0025081)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Angioedema (HP:0100665)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Thickened skin (HP:0001072)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Skin erosion (HP:0200041)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Erythema (HP:0010783)
Associated disease: MASTOCYTOSIS, CUTANEOUS (OMIM:154800)
Gene: KIT
Phenotype: Erythema (HP:0010783)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Teratoma (HP:0009792)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: KIT
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Profuse pigmented skin lesions (HP:0005587)
Associated disease: Bullous diffuse cutaneous mastocytosis; Bullous DCM (ORPHA:280785)
Gene: KIT
Phenotype: Increased total basophil count (HP:0031807)
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: Chronic lymphatic leukemia (HP:0005550)
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: Myeloproliferative disorder (HP:0005547)
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 leukocyte count (HP:0001974)
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: Fever (HP:0001945)
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: Anemia (HP:0001903)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Synophrys (HP:0000664)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Peptic ulcer (HP:0004398)
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: Elevated total serum tryptase (HP:0031901)
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: Elevated total serum tryptase (HP:0031901)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Hematological neoplasm (HP:0004377)
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: Macule (HP:0012733)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Macule (HP:0012733)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Pallor (HP:0000980)
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: Neoplasm of the colon (HP:0100273)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Pruritus (HP:0000989)
Associated disease: Bullous diffuse cutaneous mastocytosis; Bullous DCM (ORPHA:280785)
Gene: KIT
Phenotype: Pruritus (HP:0000989)
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: Pruritus (HP:0000989)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Skin rash (HP:0000988)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: KIT
Phenotype: Edema (HP:0000969)
Associated disease: MASTOCYTOSIS, CUTANEOUS (OMIM:154800)
Gene: KIT
Phenotype: Osteoporosis (HP:0000939)
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: Sarcoma (HP:0100242)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Bullous diffuse cutaneous mastocytosis; Bullous DCM (ORPHA:280785)
Gene: KIT
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Infiltrative small vesicular DCM; Pseudoxanthomatous DCM; Pseudoxanthomatous diffuse cutaneous mastocytosis; Infiltrative small vesicular diffuse cutaneous mastocytosis (ORPHA:280794)
Gene: KIT
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Scaling skin (HP:0040189)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Arthralgia (HP:0002829)
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: Embryonal neoplasm (HP:0002898)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: KIT
Phenotype: Microcephaly (HP:0000252)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Peau d'orange (HP:0025533)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Myelodysplasia (HP:0002863)
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: Fatigue (HP:0012378)
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: Fatigue (HP:0012378)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Amyloidosis (HP:0011034)
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: Intestinal obstruction (HP:0005214)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: KIT
Phenotype: Cardiorespiratory arrest (HP:0006543)
Associated disease: Bullous diffuse cutaneous mastocytosis; Bullous DCM (ORPHA:280785)
Gene: KIT
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Long philtrum (HP:0000343)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Myeloid leukemia (HP:0012324)
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: Chronic myelomonocytic leukemia (HP:0012325)
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: Tachycardia (HP:0001649)
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: Splenomegaly (HP:0001744)
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: Wide nasal bridge (HP:0000431)
Associated disease: Piebaldism (ORPHA:2884)
Gene: KIT
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: KIT
Phenotype: Multiple myeloma (HP:0006775)
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: Weight loss (HP:0001824)
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 ear (HP:0000598)
Associated disease: PIEBALD TRAIT (OMIM:172800)
Gene: KIT
Phenotype: Erythematous papule (HP:0030350)
Associated disease: Cutaneous local mastocytoma; Solitary mastocytoma; Multiple mastocytoma; Cutaneous mastocytoma (ORPHA:79455)
Gene: KIT
Phenotype: Normochromic anemia (HP:0001895)
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: Normocytic anemia (HP:0001897)
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 eosinophil count (HP:0001880)
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: Thrombocytopenia (HP:0001873)
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: KLKB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PREKALLIKREIN DEFICIENCY (OMIM:612423)
Gene: KLKB1
Phenotype: Late onset (HP:0003584)
Associated disease: PREKALLIKREIN DEFICIENCY (OMIM:612423)
Gene: KLKB1
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: PREKALLIKREIN DEFICIENCY (OMIM:612423)
Gene: KLKB1
Phenotype: Reduced circulating prekallikrein concentration (HP:0034371)
Associated disease: PREKALLIKREIN DEFICIENCY (OMIM:612423)
Gene: KLKB1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: PREKALLIKREIN DEFICIENCY (OMIM:612423)
Gene: KNG1
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: ANGIOEDEMA, HEREDITARY, 6 (OMIM:619363)
Gene: KNG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY (OMIM:228960)
Gene: KNG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANGIOEDEMA, HEREDITARY, 6 (OMIM:619363)
Gene: KNG1
Phenotype: Swollen lip (HP:0031244)
Associated disease: ANGIOEDEMA, HEREDITARY, 6 (OMIM:619363)
Gene: KNG1
Phenotype: Middle age onset (HP:0003596)
Associated disease: ANGIOEDEMA, HEREDITARY, 6 (OMIM:619363)
Gene: KNG1
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY (OMIM:228960)
Gene: KNG1
Phenotype: Angioedema (HP:0100665)
Associated disease: ANGIOEDEMA, HEREDITARY, 6 (OMIM:619363)
Gene: KNG1
Phenotype: Reduced kininogen activity (HP:0005527)
Associated disease: HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY (OMIM:228960)
Gene: KNG1
Phenotype: Young adult onset (HP:0011462)
Associated disease: ANGIOEDEMA, HEREDITARY, 6 (OMIM:619363)
Gene: KNG1
Phenotype: Facial edema (HP:0000282)
Associated disease: ANGIOEDEMA, HEREDITARY, 6 (OMIM:619363)
Gene: KIF11
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF11
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Hypertonia (HP:0001276)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Seizure (HP:0001250)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Hypotonia (HP:0001252)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Spasticity (HP:0001257)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Variable expressivity (HP:0003828)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Specific learning disability (HP:0001328)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF11
Phenotype: Lymphoma (HP:0002665)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF11
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF11
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Myopic astigmatism (HP:0500041)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Deep philtrum (HP:0002002)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Rigidity (HP:0002063)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Pleural effusion (HP:0002202)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Gangrene (HP:0100758)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Severe short stature (HP:0003510)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Erysipelas (HP:0001055)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)