# Disease(DOID)
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| Name
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| Definition
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|---|---|---|---|
DOID:0060375 | orofaciodigital syndrome V | null | polydactyly, postaxial, with median cleft of upper lip EXACT [] |
DOID:0060376 | Joubert syndrome with orofaciodigital defect | A Joubert syndrome subtype with orofaciodigital defect. [PMID:23716954] | Varadi-Papp syndrome EXACT [] |
DOID:0060377 | orofaciodigital syndrome VII | null | Whelan syndrome EXACT [] |
DOID:0060378 | orofaciodigital syndrome VIII | null | OFD8 EXACT [] |
DOID:0060379 | acrofacial dysostosis | null | null |
DOID:0060380 | orofaciodigital syndrome X | null | orofaciodigital syndrome with fibular aplasia EXACT [] |
DOID:0060381 | orofaciodigital syndrome XI | null | null |
DOID:0060382 | orofaciodigital syndrome IX | null | orofaciodigital syndrome with retinal abnormalities EXACT [] |
DOID:0060383 | acrofacial dysostosis Rodriguez type | null | acrofacial dysostosis, syndrome of Rodriguez EXACT [] |
DOID:0060384 | acrofacial dysostosis, Catania type | null | Opitz-Caltabiano syndrome EXACT [] |
DOID:0060385 | acrofacial dysostosis, Patagonia type | null | null |
DOID:0060386 | Chilblain lupus | null | null |
DOID:0060387 | chondrodysplasia Blomstrand type | null | Blomstrand lethal chondrodysplasia EXACT [] |
DOID:0060388 | chromosomal deletion syndrome | null | null |
DOID:0060389 | chromosome 10q23 deletion syndrome | null | null |
DOID:0060390 | distal 10q deletion syndrome | null | terminal chromosome 10q26 deletion syndrome EXACT [] |
DOID:0060391 | chromosome 13q14 deletion syndrome | null | deletion 13q14 EXACT [] |
DOID:0060392 | chromosome 14q11-q22 deletion syndrome | null | 14q11.2 microdeletion syndrome EXACT [] |
DOID:0060393 | chromosome 15q11.2 deletion syndrome | null | 15q11.2 microdeletion syndrome EXACT [] |
DOID:0060394 | chromosome 15q13.3 microdeletion syndrome | null | 15q13.3 microdeletion syndrome EXACT [] |
DOID:0060395 | chromosome 15q24 deletion syndrome | null | 15q24 microdeletion syndrome EXACT [] |
DOID:0060396 | chromosome 15q25 deletion syndrome | null | null |
DOID:0060397 | chromosome 15q26-qter deletion syndrome | null | telomeric 15q deletion syndrome EXACT [] |
DOID:0060398 | chromosome 16p11.2 deletion syndrome, 220kb | null | distal 16p11.2 microdeletion syndrome EXACT [] |
DOID:0060399 | chromosome 16p12.1 deletion syndrome, 520kb | null | null |
DOID:0060400 | chromosome 16p12.2-p11.2 deletion syndrome | null | 16p11.2p12.2 microdeletion syndrome EXACT [] |
DOID:0060401 | chromosome 16q22 deletion syndrome | null | null |
DOID:0060402 | chromosome 17p13.1 deletion syndrome | null | null |
DOID:0060403 | chromosome 17q11.2 deletion syndrome, 1.4Mb | null | Van Asperen syndrome EXACT [] |
DOID:0060404 | chromosome 17q12 deletion syndrome | null | 17q12 microdeletion syndrome EXACT [] |
DOID:0060405 | chromosome 17q23.1-q23.2 deletion syndrome | null | 17q23.1q23.2 microdeletion syndrome EXACT [] |
DOID:0060406 | chromosome 18p deletion syndrome | null | monosomy 18p EXACT [] |
DOID:0060407 | chromosome 18q deletion syndrome | null | monosomy 18q EXACT [] |
DOID:0060408 | chromosome 19q13.11 deletion syndrome | null | monosomy 19q13.11 EXACT [] |
DOID:0060409 | chromosome 1p32-p31 deletion syndrome | null | 1p31p32 microdeletion syndrome EXACT [] |
DOID:0060410 | chromosome 1p36 deletion syndrome | null | subtelomeric 1p36 deletion RELATED [] |
DOID:0060411 | chromosome 1q21.1 deletion syndrome | null | monosomy 1q21.1 RELATED [] |
DOID:0060412 | chromosome 1q41-q42 deletion syndrome | null | 1q41q42 microdeletion syndrome EXACT [] |
DOID:0060413 | chromosome 22q11.2 deletion syndrome, distal | null | distal 22q11.2 microdeletion syndrome EXACT [] |
DOID:0060414 | chromosome 2p12-p11.2 deletion syndrome | null | null |
DOID:0060415 | chromosome 2p16.1-p15 deletion syndrome | null | 2p15p16.1 microdeletion syndrome EXACT [] |
DOID:0060416 | chromosome 2q31.2 deletion syndrome | null | null |
DOID:0060417 | 3p- syndrome | null | distal monosomy 3p EXACT [] |
DOID:0060418 | chromosome 3q13.31 deletion syndrome | null | monosomy 3q13 EXACT [] |
DOID:0060419 | chromosome 3q29 microdeletion syndrome | null | 3qter deletion EXACT [] |
DOID:0060420 | chromosome 4q21 deletion syndrome | null | monosomy 4q21 EXACT [] |
DOID:0060421 | chromosome 5q12 deletion syndrome | null | null |
DOID:0060422 | chromosome 6pter-p24 deletion syndrome | null | distal monosomy 6p EXACT [] |
DOID:0060423 | chromosome 6q11-q14 deletion syndrome | null | null |
DOID:0060424 | chromosome 6q24-q25 deletion syndrome | null | monosomy 6q25 EXACT [] |
DOID:0060425 | chromosome 8q21.11 deletion syndrome | null | 8q21.11 microdeletion syndrome EXACT [] |
DOID:0060426 | chromosome 19p13.13 deletion syndrome | null | null |
DOID:0060427 | chromosome Xp21 deletion syndrome | null | Xp21 microdeletion syndrome EXACT [] |
DOID:0060428 | chromosome 2q32-q33 deletion syndrome | null | monosomy 2q32q33 EXACT [] |
DOID:0060429 | chromosomal duplication syndrome | null | null |
DOID:0060430 | chromosome 16p11.2 duplication syndrome | null | proximal trisomy 16p11.2 EXACT [] |
DOID:0060431 | chromosome 16p13.3 duplication syndrome | null | telomeric duplication 16p EXACT [] |
DOID:0060432 | chromosome 17p13.3 duplication syndrome | null | trisomy 17p13.3 EXACT [] |
DOID:0060433 | chromosome 17q12 duplication syndrome | null | trisomy 17q12 EXACT [] |
DOID:0060434 | chromosome 17q21.31 duplication syndrome | null | trisomy 17q21.31 EXACT [] |
DOID:0060435 | chromosome 1q21.1 duplication syndrome | null | trisomy 1q21.1 EXACT [] |
DOID:0060436 | chromosome 22q11.2 microduplication syndrome | null | trisomy 22q11.2 EXACT [] |
DOID:0060437 | chromosome 22q13 duplication syndrome | null | null |
DOID:0060438 | Cole-Carpenter syndrome | An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. [PMID:10842295] | null |
DOID:0060439 | lysinuric protein intolerance | An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It is caused by homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. [PMID:1155480, url:http\://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance, url:http\://www.ncbi.nlm.nih.gov/books/NBK1361/, url:https\://en.wikipedia.org/wiki/Lysinuric_protein_intolerance] | LPI EXACT [] |
DOID:0060440 | epithelial and subepithelial dystrophy | null | null |
DOID:0060441 | epithelial-stromal TGFBI dystrophy | null | null |
DOID:0060442 | stromal dystrophy | null | null |
DOID:0060443 | endothelial dystrophy | null | null |
DOID:0060444 | granular corneal dystrophy type II | null | granular corneal dystrophy type 2 EXACT [] |
DOID:0060445 | congenital stromal corneal dystrophy | null | CSCD EXACT [] |
DOID:0060446 | X-linked endothelial corneal dystrophy | null | XECD EXACT [] |
DOID:0060447 | epithelial basement membrane dystrophy | null | microcystic corneal dystrophy EXACT [] |
DOID:0060448 | Fleck corneal dystrophy | null | Francois-Neetens speckled corneal dystrophy EXACT [] |
DOID:0060449 | gelatinous drop-like corneal dystrophy | null | subepithelial amyloidosis of the cornea EXACT [] |
DOID:0060450 | Lisch epithelial corneal dystrophy | null | LECD EXACT [] |
DOID:0060451 | Meesmann corneal dystrophy | null | Stocker-Holt dystrophy EXACT [] |
DOID:0060452 | posterior amorphous corneal dystrophy | null | PACD EXACT [] |
DOID:0060453 | Reis-Bucklers corneal dystrophy | null | RBCD EXACT [] |
DOID:0060454 | subepithelial mucinous corneal dystrophy | null | SMCD EXACT [] |
DOID:0060455 | Thiel-Behnke corneal dystrophy | null | Waardenburg-Jonker corneal dystrophy EXACT [] |
DOID:0060456 | Schnyder corneal dystrophy | null | Schnyder crystalline corneal dystrophy EXACT [] |
DOID:0060457 | posterior polymorphous corneal dystrophy | null | Schlichting dystrophy EXACT [] |
DOID:0060458 | chromosome 2q31.1 duplication syndrome | null | null |
DOID:0060459 | chromosome 3q29 microduplication syndrome | null | trisomy 3q29 EXACT [] |
DOID:0060460 | chromosome 5p13 duplication syndrome | null | trisomy 5p13 EXACT [] |
DOID:0060461 | chromosome Xp11.23-p11.22 duplication syndrome | null | trisomy Xp11.22-p11.23 EXACT [] |
DOID:0060462 | Desbuquois dysplasia | An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. [PMID:19853239, PMID:21037275] | micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification EXACT [] |
DOID:0060463 | NUT midline carcinoma | A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. [PMID:21221870, PMID:25685583, PMID:26378054, PMID:26402248, url:https\://en.wikipedia.org/wiki/NUT_midline_carcinoma, url:https\://omim.org/entry/608749, url:https\://omim.org/entry/608963] | nuclear protein in testis midline carcinoma EXACT [] |
DOID:0060464 | Feingold syndrome | An autosomal dominant disease characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. [PMID:14518066, PMID:16906565, url:http\://ghr.nlm.nih.gov/condition/feingold-syndrome, url:https\://en.wikipedia.org/wiki/Feingold_syndrome] | ODED syndrome EXACT [] |
DOID:0060465 | fibrochondrogenesis | null | null |
DOID:0060466 | gingival fibromatosis | A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. [PMID:11868160, PMID:17385395] | hereditary gingival hyperplasia EXACT [] |
DOID:0060467 | humeroradial synostosis | null | humero-radial fusion RELATED [] |
DOID:0060468 | Holt-Oram syndrome | An autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb. [PMID:12223419, PMID:12436037, url:http\://ghr.nlm.nih.gov/condition/holt-oram-syndrome, url:https\://en.wikipedia.org/wiki/Holt-Oram_syndrome] | heart-hand syndrome EXACT [] |
DOID:0060469 | Miller-Dieker lissencephaly syndrome | A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. [PMID:21239872, PMID:9473821, url:http\://ghr.nlm.nih.gov/condition/miller-dieker-syndrome, url:https\://en.wikipedia.org/wiki/Miller-Dieker_syndrome] | Miller-Dieker syndrome EXACT [] |
DOID:0060470 | salt and pepper syndrome | An autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. [PMID:24026681] | salt-and-pepper syndrome EXACT [] |
DOID:0060471 | fetal valproate syndrome | A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. [PMID:17090909, PMID:25400349] | fetal valproic acid syndrome EXACT [] |
DOID:0060472 | Kindler syndrome | A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. [PMID:12668616, url:https\://en.wikipedia.org/wiki/Kindler_syndrome] | poikiloderma of Kindler EXACT [] |
DOID:0060473 | Kabuki syndrome | A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. [PMID:25281733, PMID:25972376, PMID:26512256, url:http\://ghr.nlm.nih.gov/condition/kabuki-syndrome, url:https\://en.wikipedia.org/wiki/Kabuki_syndrome] | Niikawa-Kuroki syndrome EXACT [] |
DOID:0060474 | Chuvash polycythemia | null | Chuvash type polycythemia EXACT [] |