TaoMedAI/RareMedData huggingface dataset:
Gene: MLH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MLH1
Phenotype: T-cell lymphoma (HP:0012190)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Laryngeal carcinoma (HP:0012118)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MLH1
Phenotype: Laryngeal carcinoma (HP:0012118)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Constipation (HP:0002019)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH1
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH1
Phenotype: Migraine (HP:0002076)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Cardiac diverticulum (HP:0100571)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Adenocarcinoma of the small intestine (HP:0040274)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Adenocarcinoma of the colon (HP:0040276)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Paresthesia (HP:0003401)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Astrocytoma (HP:0009592)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Middle age onset (HP:0003596)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MLH1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MLH1
Phenotype: Plexiform neurofibroma (HP:0009732)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MLH1
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Salivary gland neoplasm (HP:0100684)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MLH1
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Urinary tract neoplasm (HP:0010786)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Leukemia (HP:0001909)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MLH1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Colon cancer (HP:0003003)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MLH1
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH1
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MLH1
Phenotype: Colon cancer (HP:0003003)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Colon cancer (HP:0003003)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 (OMIM:609310)
Gene: MLH1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH1
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH1
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Irritability (HP:0000737)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Anxiety (HP:0000739)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Depression (HP:0000716)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Axillary freckling (HP:0000997)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Ependymoma (HP:0002888)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Rhabdomyosarcoma (HP:0002859)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH1
Phenotype: Fatigue (HP:0012378)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MLH1
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH1
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH1
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Benign gastrointestinal tract tumors (HP:0006719)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MLH1
Phenotype: Sebaceous gland carcinoma (HP:0030410)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MLH1
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MLH1
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH1
Phenotype: Benign genitourinary tract neoplasm (HP:0006778)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MLH1
Phenotype: Malignant genitourinary tract tumor (HP:0006758)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MLH1
Phenotype: Malignant genitourinary tract tumor (HP:0006758)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Weight loss (HP:0001824)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Non-Hodgkin lymphoma (HP:0012539)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: KMT2A
Phenotype: Tapered finger (HP:0001182)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Tapered finger (HP:0001182)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Seizure (HP:0001250)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Seizure (HP:0001250)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Hypotonia (HP:0001252)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Thick hair (HP:0100874)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KMT2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Scoliosis (HP:0002650)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Rhizomelia (HP:0008905)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Eversion of lateral third of lower eyelids (HP:0007655)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Constipation (HP:0002019)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Short columella (HP:0002000)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Dilatation of renal calices (HP:0100581)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Hyperextensibility at elbow (HP:0010485)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Elbow hypertrichosis (HP:0004780)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Broad-based gait (HP:0002136)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Contracture of the distal interphalangeal joint of the fingers (HP:0009697)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Abnormality of the elbow (HP:0009811)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Small hand (HP:0200055)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KMT2A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Hypodontia (HP:0000668)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Synophrys (HP:0000664)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Synophrys (HP:0000664)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Short stature (HP:0004322)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Short stature (HP:0004322)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)