TaoMedAI/RareMedData huggingface dataset:
Gene: CDKN2C
Phenotype: Proportionate tall stature (HP:0011407)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Short attention span (HP:0000736)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Depression (HP:0000716)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Increased serum serotonin (HP:0003144)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Goiter (HP:0000853)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Adrenocortical abnormality (HP:0000849)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Hypertension (HP:0000822)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Abnormal circulating aldosterone concentration (HP:0040085)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Primary hypercortisolism (HP:0001579)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Ependymoma (HP:0002888)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Meningioma (HP:0002858)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Atypical absence status epilepticus (HP:0011151)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Pancreatic endocrine tumor (HP:0030405)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Glucagonoma (HP:0030404)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Intestinal carcinoid (HP:0006723)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Pulmonary carcinoid tumor (HP:0030445)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Parathyroid carcinoma (HP:0006780)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Pituitary prolactin cell adenoma (HP:0006767)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN2C
Phenotype: Weight loss (HP:0001824)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDSN
Phenotype: Cleavage at junction of stratum corneum and stratum granulosum (HP:0034838)
Associated disease: PEELING SKIN SYNDROME 1 (OMIM:270300)
Gene: CDSN
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: PEELING SKIN SYNDROME 1 (OMIM:270300)
Gene: CDSN
Phenotype: Absent facial hair (HP:0002550)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Hypohidrosis or hyperhidrosis (HP:0007550)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEELING SKIN SYNDROME 1 (OMIM:270300)
Gene: CDSN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOTRICHOSIS 2 (OMIM:146520)
Gene: CDSN
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: HYPOTRICHOSIS 2 (OMIM:146520)
Gene: CDSN
Phenotype: Asthma (HP:0002099)
Associated disease: PEELING SKIN SYNDROME 1 (OMIM:270300)
Gene: CDSN
Phenotype: Fine hair (HP:0002213)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: HYPOTRICHOSIS 2 (OMIM:146520)
Gene: CDSN
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PEELING SKIN SYNDROME 1 (OMIM:270300)
Gene: CDSN
Phenotype: Brittle hair (HP:0002299)
Associated disease: PEELING SKIN SYNDROME 1 (OMIM:270300)
Gene: CDSN
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Parakeratosis (HP:0001036)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Erythroderma (HP:0001019)
Associated disease: PEELING SKIN SYNDROME 1 (OMIM:270300)
Gene: CDSN
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PEELING SKIN SYNDROME 1 (OMIM:270300)
Gene: CDSN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOTRICHOSIS 2 (OMIM:146520)
Gene: CDSN
Phenotype: Abnormality of the axillary hair (HP:0100134)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Abnormality of the pubic hair (HP:0100133)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Short stature (HP:0004322)
Associated disease: PEELING SKIN SYNDROME 1 (OMIM:270300)
Gene: CDSN
Phenotype: Slow-growing scalp hair (HP:0100038)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Allergic rhinitis (HP:0003193)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: PEELING SKIN SYNDROME 1 (OMIM:270300)
Gene: CDSN
Phenotype: Generalized hypotrichosis (HP:0004528)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Pruritus (HP:0000989)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Pruritus (HP:0000989)
Associated disease: PEELING SKIN SYNDROME 1 (OMIM:270300)
Gene: CDSN
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Scaling skin (HP:0040189)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Scaling skin (HP:0040189)
Associated disease: PEELING SKIN SYNDROME 1 (OMIM:270300)
Gene: CDSN
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: HYPOTRICHOSIS 2 (OMIM:146520)
Gene: CDSN
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Onycholysis (HP:0001806)
Associated disease: PEELING SKIN SYNDROME 1 (OMIM:270300)
Gene: CDSN
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Gene: CDSN
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: PEELING SKIN SYNDROME 1 (OMIM:270300)
Gene: CEBPA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: CEBPA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: CEBPA
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: CEBPE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION (OMIM:260570)
Gene: CEBPE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPECIFIC GRANULE DEFICIENCY 1 (OMIM:245480)
Gene: CEBPE
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: SPECIFIC GRANULE DEFICIENCY 1 (OMIM:245480)
Gene: CEBPE
Phenotype: Recurrent abscess formation (HP:0002722)
Associated disease: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION (OMIM:260570)
Gene: CEBPE
Phenotype: Abdominal pain (HP:0002027)
Associated disease: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION (OMIM:260570)
Gene: CEBPE
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPECIFIC GRANULE DEFICIENCY 1 (OMIM:245480)
Gene: CEBPE
Phenotype: Impaired neutrophil bactericidal activity (HP:0011993)
Associated disease: SPECIFIC GRANULE DEFICIENCY 1 (OMIM:245480)
Gene: CEBPE
Phenotype: Abnormal total neutrophil count (HP:0011991)
Associated disease: SPECIFIC GRANULE DEFICIENCY 1 (OMIM:245480)
Gene: CEBPE
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION (OMIM:260570)
Gene: CEBPE
Phenotype: Recurrent fever (HP:0001954)
Associated disease: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION (OMIM:260570)
Gene: CEBPE
Phenotype: Hyposegmentation of neutrophil nuclei (HP:0011447)
Associated disease: SPECIFIC GRANULE DEFICIENCY 1 (OMIM:245480)
Gene: CEBPE
Phenotype: Hyposegmentation of neutrophil nuclei (HP:0011447)
Associated disease: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION (OMIM:260570)
Gene: CEBPE
Phenotype: Impaired neutrophil chemotaxis (HP:0040238)
Associated disease: SPECIFIC GRANULE DEFICIENCY 1 (OMIM:245480)
Gene: CEBPE
Phenotype: Impaired neutrophil chemotaxis (HP:0040238)
Associated disease: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION (OMIM:260570)
Gene: CEBPE
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: SPECIFIC GRANULE DEFICIENCY 1 (OMIM:245480)
Gene: CEBPE
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: SPECIFIC GRANULE DEFICIENCY 1 (OMIM:245480)
Gene: CEBPE
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION (OMIM:260570)
Gene: CEBPE
Phenotype: Early young adult onset (HP:0025708)
Associated disease: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION (OMIM:260570)
Gene: CEBPE
Phenotype: Epistaxis (HP:0000421)
Associated disease: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION (OMIM:260570)
Gene: CEBPE
Phenotype: Paronychia (HP:0001818)
Associated disease: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION (OMIM:260570)
Gene: CEBPE
Phenotype: Absent neutrophil specific granules (HP:0012551)
Associated disease: SPECIFIC GRANULE DEFICIENCY 1 (OMIM:245480)
Gene: CEBPE
Phenotype: Absent neutrophil lactoferrin (HP:0041042)
Associated disease: SPECIFIC GRANULE DEFICIENCY 1 (OMIM:245480)
Gene: CEBPE
Phenotype: Neutrophil nuclear clefts (HP:0041043)
Associated disease: SPECIFIC GRANULE DEFICIENCY 1 (OMIM:245480)
Gene: CEBPE
Phenotype: Increased neutrophil ribosomes (HP:0041046)
Associated disease: SPECIFIC GRANULE DEFICIENCY 1 (OMIM:245480)
Gene: CEBPE
Phenotype: Low neutrophil alkaline phosphatase (HP:0041044)
Associated disease: SPECIFIC GRANULE DEFICIENCY 1 (OMIM:245480)
Gene: CEBPE
Phenotype: Increased neutrophil mitochondria (HP:0041045)
Associated disease: SPECIFIC GRANULE DEFICIENCY 1 (OMIM:245480)
Gene: CEL
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Hepatocellular adenoma (HP:0012028)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION (OMIM:609812)
Gene: CEL
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Nephropathy (HP:0000112)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Renal cyst (HP:0000107)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Abdominal pain (HP:0002027)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION (OMIM:609812)
Gene: CEL
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Abnormal oral glucose tolerance (HP:0004924)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION (OMIM:609812)
Gene: CEL
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Glycosuria (HP:0003076)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION (OMIM:609812)
Gene: CEL
Phenotype: Young adult onset (HP:0011462)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION (OMIM:609812)
Gene: CEL
Phenotype: Abnormal circulating C-peptide concentration (HP:0030794)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Abnormal circulating insulin concentration (HP:0040214)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION (OMIM:609812)
Gene: CEL
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Overweight (HP:0025502)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Obesity (HP:0001513)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CEL
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION (OMIM:609812)
Gene: CEL
Phenotype: Retinopathy (HP:0000488)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CENPE
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Scoliosis (HP:0002650)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Seckel syndrome (ORPHA:808)