TaoMedAI/RareMedData huggingface dataset:
Gene: PDE3A
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Hypertension (HP:0000822)
Associated disease: HYPERTENSION AND BRACHYDACTYLY SYNDROME (OMIM:112410)
Gene: PDE3A
Phenotype: Hypertension (HP:0000822)
Associated disease: Bilginturan syndrome; Brachydactyly-arterial hypertension syndrome; Bilginturan brachydactyly; Brachydactyly type E, with short stature and hypertension (ORPHA:1276)
Gene: PDE3A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Type E brachydactyly (HP:0005863)
Associated disease: HYPERTENSION AND BRACHYDACTYLY SYNDROME (OMIM:112410)
Gene: PDE3A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Brachydactyly (HP:0001156)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Seizure (HP:0001250)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Broad metacarpals (HP:0001230)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Cone-shaped metacarpal epiphyses (HP:0006059)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Broad phalanx (HP:0006009)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Abnormal female external genitalia morphology (HP:0000055)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Hypospadias (HP:0000047)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Hypospadias (HP:0000047)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Coxa valga (HP:0002673)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Scoliosis (HP:0002650)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Hypotension (HP:0002615)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Open mouth (HP:0000194)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Large forehead (HP:0002003)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Frontal bossing (HP:0002007)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Congenital onset (HP:0003577)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Fair hair (HP:0002286)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Red hair (HP:0002297)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Bilateral coxa valga (HP:0010665)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Mild short stature (HP:0003502)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Open bite (HP:0010807)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Upper limb undergrowth (HP:0009824)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Caudal interpedicular narrowing (HP:0008457)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Short metatarsal (HP:0010743)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Short metatarsal (HP:0010743)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Short metatarsal (HP:0010743)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Blue irides (HP:0000635)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Hypotelorism (HP:0000601)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Short metacarpal (HP:0010049)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Short metacarpal (HP:0010049)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Broad hallux (HP:0010055)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Short stature (HP:0004322)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Hyperactivity (HP:0000752)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Autism (HP:0000717)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Autistic behavior (HP:0000729)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Short nose (HP:0003196)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Short nose (HP:0003196)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Short nose (HP:0003196)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Gene: PDE4D
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE4D
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Gene: PDE4D
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE4D
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PDE4D
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)