PedAM

Pediatric Disease Annotations & Medicines


	dubowitz syndrome

Disease ID	406
Disease	dubowitz syndrome
Definition	A rare, autosomal recessive inherited syndrome characterized by microcephaly, growth retardation, and a small, round, triangular shaped face with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
Synonym	dubowitz's syndrome dubowitz's syndrome (disorder) dwarfism-eczema-peculiar facies syndrome
Orphanet	ORPHANET:235
OMIM	OMIM:223370
DOID	DOID:14796
UMLS	C0175691
SNOMED-CT	SNOMEDCT_US_2016_09_01:2593002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0004096 \| asthma \| 1 C0035412 \| rhabdomyosarcoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) NSUN2 \| 54888 \| ORPHANET LIG4 \| 3981 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:21) 79650 \| USB1 \| DISEASES 2218 \| FKTN \| DISEASES 3485 \| IGFBP2 \| DISEASES 79977 \| GRHL2 \| DISEASES 6496 \| SIX3 \| DISEASES 8731 \| RNMT \| DISEASES 10000 \| AKT3 \| DISEASES 54888 \| NSUN2 \| DISEASES 57465 \| TBC1D24 \| DISEASES 4094 \| MAF \| DISEASES 71 \| ACTG1 \| DISEASES 89910 \| UBE3B \| DISEASES 3981 \| LIG4 \| DISEASES 60 \| ACTB \| DISEASES 728378 \| POTEF \| DISEASES 157680 \| VPS13B \| DISEASES 5573 \| PRKAR1A \| DISEASES 5116 \| PCNT \| DISEASES 5361 \| PLXNA1 \| DISEASES 23363 \| OBSL1 \| DISEASES 9820 \| CUL7 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) LIG4 \| 13q33.3 NSUN2 \| 5p15.31

Disease ID	406
Disease	dubowitz syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:130) HP:0008897 \| Postnatal growth retardation HP:0001773 \| Short foot HP:0000431 \| Broad nasal root HP:0003298 \| Spina bifida occulta HP:0009738 \| Abnormality of the antihelix HP:0000411 \| Prominent ears HP:0000274 \| Hypoplasia of face HP:0000286 \| Epicanthus HP:0001763 \| Pes planus HP:0000540 \| Hypermetropia HP:0000347 \| Micrognathia HP:0001249 \| Mental retardation HP:0009891 \| Flat supraorbital margins HP:0000581 \| Blepharophimosis HP:0007676 \| Hypoplasia of the iris HP:0011304 \| Broad thumb HP:0005338 \| Laterally sparse eyebrows HP:0000829 \| Hypoparathyroidism HP:0001363 \| Craniosynostosis HP:0006349 \| Agenesis of permanent dentition HP:0001770 \| Toe syndactyly HP:0000154 \| Wide mouth HP:0002719 \| infections, recurrent HP:0002213 \| Fine hair HP:0000958 \| Dry skin HP:0000518 \| Cataract HP:0000752 \| Hyperactive behavior HP:0002665 \| Lymphoma HP:0000639 \| Nystagmus HP:0007018 \| Attention deficit hyperactivity disorder HP:0002650 \| Scoliosis HP:0000252 \| Microcephaly HP:0000340 \| Sloping forehead HP:0001249 \| Intellectual disability HP:0000218 \| High palate HP:0002209 \| Sparse scalp hair HP:0000294 \| Low anterior hairline HP:0001000 \| Abnormality of skin pigmentation HP:0006721 \| Acute lymphocytic leukemia HP:0000340 \| Receding forehead HP:0001231 \| Abnormality of the fingernails HP:0000547 \| Tapetoretinal degeneration HP:0000568 \| Abnormally small globe of eye HP:0001840 \| Metatarsus adductus HP:0009891 \| Underdeveloped supraorbital ridges HP:0004322 \| Short stature HP:0000047 \| Hypospadias HP:0001252 \| Hypotonia HP:0000260 \| Wide anterior fontanel HP:0001620 \| High pitched voice HP:0004209 \| Clinodactyly of the 5th finger HP:0000612 \| Iris coloboma HP:0000736 \| Short attention span HP:0000270 \| Delayed cranial suture closure HP:0000324 \| Asymmetry of face HP:0000455 \| Increased breadth of tip of nose HP:0005280 \| Depressed nasal bridge HP:0000028 \| Cryptorchidism HP:0000176 \| Submucous cleft hard palate HP:0002024 \| Malabsorption HP:0006721 \| Acute lymphatic leukemia HP:0009602 \| Abnormality of thumb phalanx HP:0002099 \| Asthma HP:0000055 \| Abnormality of female external genitalia HP:0002719 \| Recurrent infections HP:0000411 \| Protruding ear HP:0000369 \| Low-set ears HP:0000960 \| Sacral dimple HP:0003006 \| Neuroblastoma HP:0001874 \| Abnormality of neutrophils HP:0007370 \| Aplasia/Hypoplasia of the corpus callosum HP:0002720 \| Decreased immunoglobulin A HP:0000164 \| Abnormality of the teeth HP:0005692 \| Joint hyperflexibility HP:0001156 \| Brachydactyly syndrome HP:0012745 \| Decreased height of palpebral fissure HP:0000767 \| Pectus excavatum HP:0000486 \| Strabismus HP:0002093 \| Respiratory insufficiency HP:0000508 \| Ptosis HP:0000365 \| Hearing impairment HP:0009601 \| Aplasia/Hypoplasia of the thumb HP:0000485 \| Enlarged cornea HP:0002209 \| Scalp hair, thinning HP:0001873 \| Thrombocytopenia HP:0001511 \| Prenatal onset growth retardation HP:0000348 \| High forehead HP:0000347 \| Hypoplasia of mandible HP:0001852 \| Sandal gap HP:0004209 \| Clinodactyly of fifth digit HP:0001903 \| Anemia HP:0000750 \| Late-onset speech development HP:0001511 \| Intrauterine growth retardation HP:0001800 \| Hypoplastic toenails HP:0002028 \| Chronic diarrhea HP:0000965 \| Cutis marmorata HP:0002750 \| Delayed skeletal maturation HP:0000218 \| Increased palatal height HP:0200055 \| Small hand HP:0000486 \| Squint eyes HP:0001915 \| Aplastic anemia HP:0004315 \| IgG deficiency HP:0000964 \| Eczema HP:0000286 \| Palpebronasal fold HP:0002025 \| Anal stenosis HP:0000992 \| Cutaneous photosensitivity HP:0000126 \| Hydronephrosis HP:0000545 \| Myopia HP:0000684 \| Delayed eruption of teeth HP:0002020 \| Heartburn HP:0001250 \| Seizures HP:0000238 \| Hydrocephalus HP:0000252 \| Small head circumference HP:0000670 \| Dental caries HP:0000220 \| Velopharyngeal insufficiency HP:0002664 \| Neoplasm HP:0000506 \| Telecanthus HP:0000316 \| Hypertelorism HP:0002564 \| Malformation of the heart and great vessels HP:0002750 \| Delayed bone maturation HP:0008897 \| Growth retardation as children HP:0002572 \| Episodic vomiting HP:0000275 \| Narrow face HP:0000023 \| Inguinal hernia HP:0000508 \| Drooping upper eyelid HP:0000368 \| Low-set, posteriorly rotated ears HP:0002035 \| Rectal prolapse HP:0008872 \| Feeding difficulties in infancy HP:0000388 \| Otitis media HP:0005338 \| Sparse lateral eyebrow
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0002099 \| Asthma \| 1 HP:0002720 \| Decreased immunoglobulin A \| 1 HP:0002859 \| Rhabdomyosarcoma \| 1

Disease ID	406
Disease	dubowitz syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C2700513 \| aplastic anemia C1956346 \| coronary artery disease C0700208 \| scoliosis C0271561 \| growth hormone deficiency
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:0)
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GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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