TaoMedAI/RareMedData huggingface dataset:
Gene: PDCD1
Phenotype: Abnormal circulating IgM concentration (HP:0410243)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Abnormal circulating IgE concentration (HP:0410241)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Extrapulmonary tuberculosis (HP:0032271)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Arthritis (HP:0001369)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Anti-glutamic acid decarboxylase antibody positivity (HP:0025329)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay (HP:6000901)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Peritoneal abscess (HP:0100592)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Verrucae (HP:0200043)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Pneumocystis jirovecii pneumonia (HP:0020102)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Anti-islet antigen-2 antibody positivity (HP:0034063)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Anti-insulin antibody positivity (HP:0034062)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Childhood onset (HP:0011463)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Respiratory failure (HP:0002878)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Immune dysregulation (HP:0002958)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Splenomegaly (HP:0001744)
Associated disease:  (OMIM:621004)
Gene: PDCD1
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDCD1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PDE1C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 74 (OMIM:618140)
Gene: PDE1C
Phenotype: Adult onset (HP:0003581)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 74 (OMIM:618140)
Gene: PDE1C
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 74 (OMIM:618140)
Gene: PDE1C
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 74 (OMIM:618140)
Gene: PDE2A
Phenotype: Bruxism (HP:0003763)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Seizure (HP:0001250)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PDE2A
Phenotype: Ataxia (HP:0001251)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PDE2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PDE2A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PDE2A
Phenotype: Falls (HP:0002527)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Experiential epileptic aura (HP:0012002)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PDE2A
Phenotype: Dystonia (HP:0001332)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Dystonia (HP:0001332)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PDE2A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Chorea (HP:0002072)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Chorea (HP:0002072)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PDE2A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Insomnia (HP:0100785)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PDE2A
Phenotype: Developmental regression (HP:0002376)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Normal interictal EEG (HP:0002372)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PDE2A
Phenotype: Poor coordination (HP:0002370)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PDE2A
Phenotype: Athetosis (HP:0002305)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PDE2A
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PDE2A
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Facial grimacing (HP:0000273)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Focal motor status epilepticus (HP:0032663)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Gene: PDE2A
Phenotype: Focal impaired awareness autonomic seizure (HP:0032755)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PDE2A
Phenotype: Complex febrile seizure (HP:0011172)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: PDE3A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Bilginturan syndrome; Brachydactyly-arterial hypertension syndrome; Bilginturan brachydactyly; Brachydactyly type E, with short stature and hypertension (ORPHA:1276)
Gene: PDE3A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERTENSION AND BRACHYDACTYLY SYNDROME (OMIM:112410)
Gene: PDE3A
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: HYPERTENSION AND BRACHYDACTYLY SYNDROME (OMIM:112410)
Gene: PDE3A
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: Bilginturan syndrome; Brachydactyly-arterial hypertension syndrome; Bilginturan brachydactyly; Brachydactyly type E, with short stature and hypertension (ORPHA:1276)
Gene: PDE3A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: HYPERTENSION AND BRACHYDACTYLY SYNDROME (OMIM:112410)
Gene: PDE3A
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: HYPERTENSION AND BRACHYDACTYLY SYNDROME (OMIM:112410)
Gene: PDE3A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Bilginturan syndrome; Brachydactyly-arterial hypertension syndrome; Bilginturan brachydactyly; Brachydactyly type E, with short stature and hypertension (ORPHA:1276)
Gene: PDE3A
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Short stature (HP:0004322)
Associated disease: HYPERTENSION AND BRACHYDACTYLY SYNDROME (OMIM:112410)
Gene: PDE3A
Phenotype: Short stature (HP:0004322)
Associated disease: Bilginturan syndrome; Brachydactyly-arterial hypertension syndrome; Bilginturan brachydactyly; Brachydactyly type E, with short stature and hypertension (ORPHA:1276)
Gene: PDE3A
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDE3A
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PDE3A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)