TaoMedAI/RareMedData huggingface dataset:
Gene: MKRN3
Phenotype: Breech presentation (HP:0001623)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Strabismus (HP:0000486)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Chronic constipation (HP:0012450)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Short foot (HP:0001773)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Premature pubarche (HP:0012411)
Associated disease: PRECOCIOUS PUBERTY, CENTRAL, 2 (OMIM:615346)
Gene: MKRN3
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Esotropia (HP:0000565)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MKRN3
Phenotype: Myopia (HP:0000545)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: ZNF141
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A6 (OMIM:615226)
Gene: ZNF141
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A6 (OMIM:615226)
Gene: ZNF141
Phenotype: Congenital onset (HP:0003577)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A6 (OMIM:615226)
Gene: ZNF141
Phenotype: Abnormal sweat gland morphology (HP:0000971)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A6 (OMIM:615226)
Gene: ZNF141
Phenotype: Broad phalanges of the 5th finger (HP:0009374)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A6 (OMIM:615226)
Gene: ZNF141
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A6 (OMIM:615226)
Gene: ZNF141
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A6 (OMIM:615226)
Gene: ZNF141
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A6 (OMIM:615226)
Gene: ZNF142
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: ZNF142
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: ZNF142
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: ZNF142
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: ZNF142
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: ZNF142
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: ZNF142
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: ZNF142
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: ZNF142
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: ZNF142
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: ZNF142
Phenotype: Chorea (HP:0002072)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: ZNF142
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: ZNF142
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: ZNF142
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: ZNF142
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: ZNF142
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: ZNF142
Phenotype: Torticollis (HP:0000473)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Gene: PCGF2
Phenotype: Tapered finger (HP:0001182)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Microtia (HP:0008551)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Long fingers (HP:0100807)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Long thorax (HP:0100818)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Hypotonia (HP:0001252)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Dysarthria (HP:0001260)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Prominent interphalangeal joints (HP:0006237)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Absent speech (HP:0001344)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Hypoplasia of the primary teeth (HP:0006334)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Constipation (HP:0002019)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Mild short stature (HP:0003502)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Numerous nevi (HP:0001054)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Small hand (HP:0200055)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Drooling (HP:0002307)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Dental crowding (HP:0000678)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Microdontia (HP:0000691)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Decreased body weight (HP:0004325)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Satyr ear (HP:0030676)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Narrow chest (HP:0000774)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Short sternum (HP:0000879)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Long face (HP:0000276)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Malar flattening (HP:0000272)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Microcephaly (HP:0000252)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: High palate (HP:0000218)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Low-set ears (HP:0000369)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Broad forehead (HP:0000337)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Carotid artery tortuosity (HP:0005302)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Torticollis (HP:0000473)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Pes cavus (HP:0001761)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: PCGF2
Phenotype: Overlapping toe (HP:0001845)
Associated disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Gene: ZBTB16
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Chronic infection (HP:0031035)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Bone pain (HP:0002653)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Productive cough (HP:0031245)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Addictive alcohol use (HP:0030955)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Anorexia (HP:0002039)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Gangrene (HP:0100758)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Vertigo (HP:0002321)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Metrorrhagia (HP:0100608)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Disseminated intravascular coagulation (HP:0005521)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Fever (HP:0001945)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Anemia (HP:0001903)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: ZBTB16
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZBTB16
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZBTB16
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)