TaoMedAI/RareMedData huggingface dataset:
Gene: LAMP2
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: LAMP2
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: LAMP2
Phenotype: Myocardial necrosis (HP:0001700)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Skeletal muscle autophagosome accumulation (HP:0025717)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Pes cavus (HP:0001761)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: LAMP2
Phenotype: Visual impairment (HP:0000505)
Associated disease: DANON DISEASE (OMIM:300257)
Gene: RPSA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ASPLENIA, ISOLATED CONGENITAL (OMIM:271400)
Gene: RPSA
Phenotype: Howell-Jolly bodies (HP:0032550)
Associated disease: ASPLENIA, ISOLATED CONGENITAL (OMIM:271400)
Gene: RPSA
Phenotype: Infantile onset (HP:0003593)
Associated disease: ASPLENIA, ISOLATED CONGENITAL (OMIM:271400)
Gene: RPSA
Phenotype: Asplenia (HP:0001746)
Associated disease: ASPLENIA, ISOLATED CONGENITAL (OMIM:271400)
Gene: RPSA
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: ASPLENIA, ISOLATED CONGENITAL (OMIM:271400)
Gene: LBR
Phenotype: Broad palm (HP:0001169)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Brachydactyly (HP:0001156)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Brachydactyly (HP:0001156)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Brachydactyly (HP:0001156)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Echogenic fetal bowel (HP:0010943)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Calcinosis (HP:0003761)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Seizure (HP:0001250)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Hypotonia (HP:0001252)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Steatorrhea (HP:0002570)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Laryngeal calcification (HP:0008754)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Nevus flammeus of the forehead (HP:0007413)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Cartilaginous ossification of larynx (HP:0008747)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Short femoral neck (HP:0100864)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Palmar telangiectasia (HP:0100869)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Bowed humerus (HP:0003865)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Stillbirth (HP:0003826)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Neonatal death (HP:0003811)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Cholestasis (HP:0001396)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Joint dislocation (HP:0001373)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Arthritis (HP:0001369)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Small foramen magnum (HP:0002677)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Platybasia (HP:0002691)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Severe short-limb dwarfism (HP:0008890)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Severe short-limb dwarfism (HP:0008890)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Rhizomelia (HP:0008905)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Rhizomelia (HP:0008905)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Rhizomelia (HP:0008905)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Large placenta (HP:0006267)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Tracheal calcification (HP:0002787)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Asthenia (HP:0025406)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Myalgia (HP:0003326)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Dysphagia (HP:0002015)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Frontal bossing (HP:0002007)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Frontal bossing (HP:0002007)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Midface retrusion (HP:0011800)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Midface retrusion (HP:0011800)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Midface retrusion (HP:0011800)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Polydactyly (HP:0010442)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Abnormally ossified vertebrae (HP:0100569)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Horizontal sacrum (HP:0003440)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Abnormal bone ossification (HP:0011849)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Sclerodactyly (HP:0011838)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Sclerodactyly (HP:0011838)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Congenital onset (HP:0003577)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: REYNOLDS SYNDROME (OMIM:613471)
Gene: LBR
Phenotype: Lichenification (HP:0100725)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Patchy variation in bone mineral density (HP:0010659)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Ectopic ossification (HP:0011986)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Mild short stature (HP:0003502)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Mild short stature (HP:0003502)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Lymphedema (HP:0001004)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Preeclampsia (HP:0100602)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Toxemia of pregnancy (HP:0100603)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Upper limb undergrowth (HP:0009824)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Ectopic calcification (HP:0010766)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Punctate vertebral calcifications (HP:0008420)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Median cleft palate (HP:0009099)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Abnormal gastric mucosa morphology (HP:0004295)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Fever (HP:0001945)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Giant platelets (HP:0001902)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Short metacarpal (HP:0010049)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Short 5th metacarpal (HP:0010047)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Short 5th metacarpal (HP:0010047)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Broad hallux (HP:0010055)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Short 3rd metacarpal (HP:0010041)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Generalized abnormality of skin (HP:0011354)
Associated disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Gene: LBR
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: PELGER-HUET ANOMALY (OMIM:169400)
Gene: LBR
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Fractured rib (HP:0041159)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Thoracolumbar kyphosis (HP:0005619)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Antenatal onset (HP:0030674)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LBR
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Short long bone (HP:0003026)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Short long bone (HP:0003026)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Mesomelia (HP:0003027)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)
Gene: LBR
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Gene: LBR
Phenotype: Abnormal pelvis bone ossification (HP:0009106)
Associated disease: HEM dysplasia; Greenberg dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Gene: LBR
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LBR
Phenotype: Hypoplasia of the calcaneus (HP:0012789)
Associated disease: GREENBERG DYSPLASIA (OMIM:215140)