TaoMedAI/RareMedData huggingface dataset:
Gene: TRIP13
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Malaise (HP:0033834)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Neoplasm (HP:0002664)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Neoplasm (HP:0002664)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OOCYTE MATURATION DEFECT 9 (OMIM:619011)
Gene: TRIP13
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Abnormal uterus morphology (HP:0031105)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Cleft palate (HP:0000175)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Cleft palate (HP:0000175)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Abnormality of the menstrual cycle (HP:0000140)
Associated disease: OOCYTE MATURATION DEFECT 9 (OMIM:619011)
Gene: TRIP13
Phenotype: Stomach cancer (HP:0012126)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Osteolysis (HP:0002797)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Dyspnea (HP:0002094)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Apnea (HP:0002104)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Female infertility (HP:0008222)
Associated disease: OOCYTE MATURATION DEFECT 9 (OMIM:619011)
Gene: TRIP13
Phenotype: Infantile onset (HP:0003593)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Zygotic cleavage failure (HP:0033336)
Associated disease: OOCYTE MATURATION DEFECT 9 (OMIM:619011)
Gene: TRIP13
Phenotype: Reduced von Willebrand factor activity (HP:0008330)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Vaginal neoplasm (HP:0100650)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Premature chromatid separation (HP:0200024)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Duplication of renal pelvis (HP:0005580)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Nystagmus (HP:0000639)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Fever (HP:0001945)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Anemia (HP:0001903)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Polycythemia (HP:0001901)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Short stature (HP:0004322)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Short stature (HP:0004322)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Colon cancer (HP:0003003)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Childhood onset (HP:0011463)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Young adult onset (HP:0011462)
Associated disease: OOCYTE MATURATION DEFECT 9 (OMIM:619011)
Gene: TRIP13
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Varicocele (HP:0012871)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Hypertension (HP:0000822)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Epicanthus (HP:0000286)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Microcephaly (HP:0000252)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Microcephaly (HP:0000252)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Rhabdomyosarcoma (HP:0002859)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Ascites (HP:0001541)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Growth delay (HP:0001510)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Growth delay (HP:0001510)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Abdominal mass (HP:0031500)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Oocyte arrest at metaphase I (HP:0031516)
Associated disease: OOCYTE MATURATION DEFECT 9 (OMIM:619011)
Gene: TRIP13
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Low-set ears (HP:0000369)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: High forehead (HP:0000348)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Micrognathia (HP:0000347)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Triangular face (HP:0000325)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Wide nose (HP:0000445)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Cataract (HP:0000518)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Gene: TRIP13
Phenotype: Aniridia (HP:0000526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Weight loss (HP:0001824)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Glaucoma (HP:0000501)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP13
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIP13
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: TRIP12
Phenotype: Motor delay (HP:0001270)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Seizure (HP:0001250)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Hypotonia (HP:0001252)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Wide mouth (HP:0000154)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Large earlobe (HP:0009748)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Low hanging columella (HP:0009765)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Hyperactivity (HP:0000752)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Anxiety (HP:0000739)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Short nose (HP:0003196)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Epicanthus (HP:0000286)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Clinodactyly (HP:0030084)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Microcephaly (HP:0000252)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: High palate (HP:0000218)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Obesity (HP:0001513)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Low-set ears (HP:0000369)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Sloping forehead (HP:0000340)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Long philtrum (HP:0000343)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Short philtrum (HP:0000322)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Pointed chin (HP:0000307)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Strabismus (HP:0000486)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Sandal gap (HP:0001852)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP12
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Gene: TRIP11
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Absence of stomach bubble on fetal sonography (HP:0010963)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Motor delay (HP:0001270)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Crescent-shaped iliac bone (HP:6000653)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Abnormal ischium ossification (HP:6000654)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Delayed ossification of carpal bones (HP:0001216)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Stillbirth (HP:0003826)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Mesomelic short stature (HP:0008845)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Spondylometaphyseal dysplasia (HP:0002657)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Coxa valga (HP:0002673)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Scoliosis (HP:0002650)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Scoliosis (HP:0002650)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)