TaoMedAI/RareMedData huggingface dataset:
Gene: GMNN
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GMNN
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GMNN
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Slender long bone (HP:0003100)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Short nose (HP:0003196)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GMNN
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GMNN
Phenotype: Delayed puberty (HP:0000823)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GMNN
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Retrognathia (HP:0000278)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Microcephaly (HP:0000252)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Microcephaly (HP:0000252)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GMNN
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GMNN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Growth delay (HP:0001510)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GMNN
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GMNN
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Low-set ears (HP:0000369)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GMNN
Phenotype: High forehead (HP:0000348)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Microretrognathia (HP:0000308)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GMNN
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Strabismus (HP:0000486)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Delayed myelination (HP:0012448)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Microtia, third degree (HP:0011267)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: GMNN
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Sandal gap (HP:0001852)
Associated disease: MEIER-GORLIN SYNDROME 6 (OMIM:616835)
Gene: GMNN
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GMNN
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GMNN
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDPCP
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (OMIM:217085)
Gene: WDPCP
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDPCP
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: Ostravik-Lindemann-Solberg syndrome; Heart defect-tongue hamartoma-polysyndactyly syndrome (ORPHA:1338)
Gene: WDPCP
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (OMIM:217085)
Gene: WDPCP
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: 2-3 finger cutaneous syndactyly (HP:0001233)
Associated disease: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (OMIM:217085)
Gene: WDPCP
Phenotype: 2-3 finger cutaneous syndactyly (HP:0001233)
Associated disease: Ostravik-Lindemann-Solberg syndrome; Heart defect-tongue hamartoma-polysyndactyly syndrome (ORPHA:1338)
Gene: WDPCP
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Ostravik-Lindemann-Solberg syndrome; Heart defect-tongue hamartoma-polysyndactyly syndrome (ORPHA:1338)
Gene: WDPCP
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 15 (OMIM:615992)
Gene: WDPCP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDPCP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (OMIM:217085)
Gene: WDPCP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDPCP
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDPCP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDPCP
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (OMIM:217085)
Gene: WDPCP
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (OMIM:217085)
Gene: WDPCP
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: Ostravik-Lindemann-Solberg syndrome; Heart defect-tongue hamartoma-polysyndactyly syndrome (ORPHA:1338)
Gene: WDPCP
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (OMIM:217085)
Gene: WDPCP
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (OMIM:217085)
Gene: WDPCP
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDPCP
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Broad hallux (HP:0010055)
Associated disease: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (OMIM:217085)
Gene: WDPCP
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDPCP
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Postaxial polydactyly type A (HP:0005696)
Associated disease: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (OMIM:217085)
Gene: WDPCP
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDPCP
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDPCP
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDPCP
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (OMIM:217085)
Gene: WDPCP
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDPCP
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (OMIM:217085)
Gene: WDPCP
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)