TaoMedAI/RareMedData huggingface dataset:
Gene: DNAJC21
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Hyperactivity (HP:0000752)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Short attention span (HP:0000736)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Atypical behavior (HP:0000708)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Childhood onset (HP:0011463)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Narrow chest (HP:0000774)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Enlargement of the costochondral junction (HP:0000920)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Deformed rib cage (HP:0000886)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Chromosome breakage (HP:0040012)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Metaphyseal chondrodysplasia (HP:0005871)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Metaphyseal chondrodysplasia (HP:0005871)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Impaired neutrophil chemotaxis (HP:0040238)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Abnormality of the thoracic cavity (HP:0045027)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Skin rash (HP:0000988)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Osteopenia (HP:0000938)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Sparse hair (HP:0008070)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Ichthyosis (HP:0008064)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Epicanthus (HP:0000286)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Short telomere length (HP:0031413)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Proximal femoral epiphysiolysis (HP:0006461)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Proximal femoral epiphysiolysis (HP:0006461)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Coxa vara (HP:0002812)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Microcephaly (HP:0000252)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Sinusitis (HP:0000246)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Growth delay (HP:0001510)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Cupped ear (HP:0000378)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Irregular ossification at anterior rib ends (HP:0006598)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Micrognathia (HP:0000347)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Myocardial necrosis (HP:0001700)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Astigmatism (HP:0000483)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Deeply set eye (HP:0000490)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Small nail (HP:0001792)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Normocytic anemia (HP:0001897)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Hypermetropia (HP:0000540)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNAJC21
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNAJC21
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Pancytopenia (HP:0001876)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Pancytopenia (HP:0001876)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Pancytopenia (HP:0001876)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Myopia (HP:0000545)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: DNAJC21
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: DNAJC21
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: DNAJC21
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Gene: LSM11
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Hypertonia (HP:0001276)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Seizure (HP:0001250)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Seizure (HP:0001250)
Associated disease: AICARDI-GOUTIERES SYNDROME 8 (OMIM:619486)
Gene: LSM11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Spasticity (HP:0001257)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: AICARDI-GOUTIERES SYNDROME 8 (OMIM:619486)
Gene: LSM11
Phenotype: Arthritis (HP:0001369)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Micropenis (HP:0000054)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Hypoplastic male external genitalia (HP:0000050)
Associated disease: AICARDI-GOUTIERES SYNDROME 8 (OMIM:619486)
Gene: LSM11
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Dystonia (HP:0001332)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AICARDI-GOUTIERES SYNDROME 8 (OMIM:619486)
Gene: LSM11
Phenotype: Tremor (HP:0001337)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Scoliosis (HP:0002650)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: LSM11
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)