TaoMedAI/RareMedData huggingface dataset:
Gene: TRRAP
Phenotype: Young adult onset (HP:0011462)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 75 (OMIM:618778)
Gene: TRRAP
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Short nose (HP:0003196)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Epicanthus (HP:0000286)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Omphalocele (HP:0001539)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Abnormal cochlea morphology (HP:0000375)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 75 (OMIM:618778)
Gene: TRRAP
Phenotype: Low-set ears (HP:0000369)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Micrognathia (HP:0000347)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Short philtrum (HP:0000322)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Lacrimal duct aplasia (HP:0007925)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 75 (OMIM:618778)
Gene: TRRAP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Deeply set eye (HP:0000490)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Small nail (HP:0001792)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Narrow nose (HP:0000460)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Short foot (HP:0001773)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Microphallus (HP:0030260)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Bulbous nose (HP:0000414)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Visual impairment (HP:0000505)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Prominent forehead (HP:0011220)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: PICALM
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: PICALM
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: PICALM
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: KLRC4
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Meningitis (HP:0001287)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Confusion (HP:0001289)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Seizure (HP:0001250)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Ataxia (HP:0001251)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Arthritis (HP:0001369)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Epididymitis (HP:0000031)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Superficial thrombophlebitis (HP:0002638)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Vasculitis (HP:0002633)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Panuveitis (HP:0012121)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Malabsorption (HP:0002024)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Myalgia (HP:0003326)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Diarrhea (HP:0002014)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Migraine (HP:0002076)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Anorexia (HP:0002039)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Endocarditis (HP:0100584)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Pleuritis (HP:0002102)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Paresthesia (HP:0003401)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Orchitis (HP:0100796)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Gangrene (HP:0100758)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Acne (HP:0001061)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Developmental regression (HP:0002376)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Memory impairment (HP:0002354)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Vertigo (HP:0002321)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Headache (HP:0002315)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Optic neuritis (HP:0100653)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Retrobulbar optic neuritis (HP:0100654)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Papule (HP:0200034)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Myositis (HP:0100614)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Pustule (HP:0200039)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Non-infectious meningitis (HP:0033430)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: AA amyloidosis (HP:4000041)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Blindness (HP:0000618)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Photophobia (HP:0000613)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Fever (HP:0001945)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Irritability (HP:0000737)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Immunologic hypersensitivity (HP:0100326)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Myocarditis (HP:0012819)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Genital ulcers (HP:0003249)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Arthralgia (HP:0002829)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Positive pathergy test (HP:0025532)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Nongranulomatous uveitis (HP:0007813)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Fatigue (HP:0012378)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Abnormal myocardium morphology (HP:0001637)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Pericarditis (HP:0001701)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Retinopathy (HP:0000488)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Cataract (HP:0000518)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Weight loss (HP:0001824)
Associated disease: Behçet disease (ORPHA:117)
Gene: KLRC4
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Behçet disease (ORPHA:117)
Gene: ACOX2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Gene: ACOX2
Phenotype: Ataxia (HP:0001251)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Gene: ACOX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Gene: ACOX2
Phenotype: Steatorrhea (HP:0002570)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Gene: ACOX2
Phenotype: Slurred speech (HP:0001350)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Gene: ACOX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Gene: ACOX2
Phenotype: Dysmetria (HP:0001310)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Gene: ACOX2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Gene: ACOX2
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Gene: ACOX2
Phenotype: Infantile onset (HP:0003593)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Gene: ACOX2
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Gene: ACOX2
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Gene: ACOX2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Gene: ACOX2
Phenotype: Hypolipidemia (HP:0045014)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Gene: ACOX2
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Gene: AXIN1
Phenotype: Uterus didelphys (HP:0003762)
Associated disease: CAUDAL DUPLICATION ANOMALY (OMIM:607864)
Gene: AXIN1
Phenotype: Motor delay (HP:0001270)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: CAUDAL DUPLICATION ANOMALY (OMIM:607864)
Gene: AXIN1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Pachygyria (HP:0001302)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: AXIN1
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: AXIN1
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: AXIN1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Sandwich appearance of vertebral bodies (HP:0004618)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Ectopic anterior pituitary gland (HP:0012731)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Selective mutism (HP:5200001)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Thickened cortex of long bones (HP:0000935)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Subacute progressive viral hepatitis (HP:0006572)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: AXIN1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Proptosis (HP:0000520)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN1
Phenotype: Cephalohematoma (HP:0012541)
Associated disease: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA (OMIM:620558)
Gene: AXIN2
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: AXIN2
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: AXIN2
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: AXIN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: AXIN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: AXIN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AXIN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OLIGODONTIA-COLORECTAL CANCER SYNDROME (OMIM:608615)
Gene: AXIN2
Phenotype: Fundic gland polyposis (HP:0033769)
Associated disease: OLIGODONTIA-COLORECTAL CANCER SYNDROME (OMIM:608615)
Gene: AXIN2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AXIN2
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: AXIN2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: AXIN2
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: AXIN2
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: OLIGODONTIA-COLORECTAL CANCER SYNDROME (OMIM:608615)
Gene: AXIN2
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: OLIGODONTIA-COLORECTAL CANCER SYNDROME (OMIM:608615)
Gene: AXIN2
Phenotype: Sparse body hair (HP:0002231)
Associated disease: OLIGODONTIA-COLORECTAL CANCER SYNDROME (OMIM:608615)
Gene: AXIN2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: OLIGODONTIA-COLORECTAL CANCER SYNDROME (OMIM:608615)
Gene: AXIN2
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: AXIN2-related attenuated familial adenomatous polyposis; AXIN2-related attenuated FAP; AXIN2-related attenuated familial polyposis coli; AXIN2-related AFAP (ORPHA:401911)