TaoMedAI/RareMedData huggingface dataset:
Gene: WNT7A
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Short stature (HP:0004322)
Associated disease: SANTOS SYNDROME (OMIM:613005)
Gene: WNT7A
Phenotype: Short stature (HP:0004322)
Associated disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Gene: WNT7A
Phenotype: Aplasia/hypoplasia of the femur (HP:0005613)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Aplasia/hypoplasia of the femur (HP:0005613)
Associated disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Gene: WNT7A
Phenotype: Elbow ankylosis (HP:0003070)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WNT7A
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WNT7A
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Humeroradial synostosis (HP:0003041)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Humeroradial synostosis (HP:0003041)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Long ear (HP:0400004)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Aplasia/Hypoplasia of the pubic bone (HP:0009104)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Aplasia/Hypoplasia involving the pelvis (HP:0009103)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Short nose (HP:0003196)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Broad clavicles (HP:0000916)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WNT7A
Phenotype: Prominent sternum (HP:0000884)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Broad ribs (HP:0000885)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WNT7A
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WNT7A
Phenotype: Anteriorly displaced genitalia (HP:0003252)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: SANTOS SYNDROME (OMIM:613005)
Gene: WNT7A
Phenotype: Ectrodactyly (HP:0100257)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: SANTOS SYNDROME (OMIM:613005)
Gene: WNT7A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Finger aplasia (HP:0009380)
Associated disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Gene: WNT7A
Phenotype: Finger aplasia (HP:0009380)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Finger aplasia (HP:0009380)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Epicanthus (HP:0000286)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Long face (HP:0000276)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Gene: WNT7A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Clinodactyly (HP:0030084)
Associated disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Gene: WNT7A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: High palate (HP:0000218)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WNT7A
Phenotype: Genu valgum (HP:0002857)
Associated disease: SANTOS SYNDROME (OMIM:613005)
Gene: WNT7A
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WNT7A
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Gene: WNT7A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Aplasia/Hypoplasia involving the carpal bones (HP:0006502)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WNT7A
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Congenital pseudoarthrosis of the clavicle (HP:0006585)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Aplasia/Hypoplasia of the fibula (HP:0006492)
Associated disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Gene: WNT7A
Phenotype: Aplasia/Hypoplasia of the ulna (HP:0006495)
Associated disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Gene: WNT7A
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WNT7A
Phenotype: Low-set ears (HP:0000369)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WNT7A
Phenotype: Micrognathia (HP:0000347)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Micromelia (HP:0002983)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Femoral bowing (HP:0002980)
Associated disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Gene: WNT7A
Phenotype: Femoral bowing (HP:0002980)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Abnormal tibia morphology (HP:0002992)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Fibular aplasia (HP:0002990)
Associated disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Gene: WNT7A
Phenotype: Fibular aplasia (HP:0002990)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Fibular aplasia (HP:0002990)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Radial bowing (HP:0002986)
Associated disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Gene: WNT7A
Phenotype: Radial bowing (HP:0002986)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Radial bowing (HP:0002986)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Gene: WNT7A
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WNT7A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Broad neck (HP:0000475)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Short neck (HP:0000470)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Short neck (HP:0000470)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Anonychia (HP:0001798)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Anonychia (HP:0001798)
Associated disease: SANTOS SYNDROME (OMIM:613005)
Gene: WNT7A
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Gene: WNT7A
Phenotype: Short foot (HP:0001773)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Protruding ear (HP:0000411)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Gene: WNT7A
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SANTOS SYNDROME (OMIM:613005)
Gene: WNT7A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Decreased calvarial ossification (HP:0005474)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Foot oligodactyly (HP:0001849)
Associated disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Gene: WNT7A
Phenotype: Foot oligodactyly (HP:0001849)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Foot oligodactyly (HP:0001849)
Associated disease: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY (OMIM:276820)
Gene: WNT7A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SANTOS SYNDROME (OMIM:613005)
Gene: WNT7A
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WNT7A
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Absent toenail (HP:0001802)
Associated disease: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (OMIM:228930)
Gene: WNT7A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT7A
Phenotype: Talipes (HP:0001883)
Associated disease: Al Awadi-Raas-Rothschild syndrome; Aplasia/hypoplasia of limbs and pelvis; Severe limb deficit; Phocomelia, Schinzel type; Congenital absence of ulna and fibula (ORPHA:2879)
Gene: WNT7A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WNT7B
Phenotype: Aplasia/Hypoplasia of the pancreas (HP:0100800)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Hypotonia (HP:0001252)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Duodenal stenosis (HP:0100867)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Abnormal spleen morphology (HP:0025408)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Abnormal lung morphology (HP:0002088)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Low-set ears (HP:0000369)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Annular pancreas (HP:0001734)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT7B
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: WNT10B
Phenotype: Split hand (HP:0001171)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: WNT10B
Phenotype: Split hand (HP:0001171)
Associated disease: SPLIT-HAND/FOOT MALFORMATION 6 (OMIM:225300)
Gene: WNT10B
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WNT10B
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WNT10B
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT10B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WNT10B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)