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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=640&ordering=identifier",
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"results": [
{
"identifier": "Blepharocheilodontic syndrome 1.",
"acronym": "BCDS1.",
"accession": "DI-05103",
"synonyms": "BCDS.; BCD SYNDROME.; Blepharocheilodontic syndrome.; Clefting, ectropion, and conical teeth.; Ectropion, inferior, with cleft lip and/or palate.; Elschnig syndrome.; Lagophthalmia with bilateral cleft lip and palate.; ",
"cross_references": "MeSH; D014071.",
"definition": "A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Blepharocheilodontic syndrome 2.",
"acronym": "BCDS2.",
"accession": "DI-05104",
"synonyms": null,
"cross_references": "MeSH; D014071.",
"definition": "A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Blepharophimosis-impaired intellectual development syndrome.",
"acronym": "BIS.",
"accession": "DI-06094",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant congenital syndrome characterized by blepharophimosis, facial dysmorphism, global development delay, delayed motor skills, impaired intellectual development with poor or absent speech, and behavioral abnormalities in some patients. Additional variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Blepharophimosis, ptosis, and epicanthus inversus syndrome.",
"acronym": "BPES.",
"accession": "DI-01287",
"synonyms": "Autosomal dominant BPES type I.; Autosomal recessive BPES type I.; Blepharophimosis syndrome.; BPES type I.; BPES type II.; BPES with Duane retraction syndrome.; BPES without ovarian failure.; BPES with ovarian failure.; ",
"cross_references": "MeSH; D016569.",
"definition": "A disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral direction, inferior to the inner canthus. In type I BPSE (BPES1) eyelid abnormalities are associated with female infertility. Affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure (POF). In type II BPSE (BPES2) affected individuals show only the eyelid defects. ",
"keywords": null
},
{
"identifier": "Blistering, acantholytic, of oral and laryngeal mucosa.",
"acronym": "ABOLM.",
"accession": "DI-06040",
"synonyms": null,
"cross_references": "MeSH; D009059.",
"definition": "An autosomal recessive disorder characterized by recurrent, suprabasal acantholytic blisters in the oral and laryngeal mucosa. Skin, conjunctival and genital mucosa, nail folds, and nails are unaffected. Normal structure is observed in the scalp epidermis and hair follicle. ",
"keywords": null
},
{
"identifier": "Bloom syndrome.",
"acronym": "BLM.",
"accession": "DI-00191",
"synonyms": "BLS.; BS.; MGRISCE1.; Microcephaly, growth restriction, and increased sister chromatid exchange 1.; ",
"cross_references": "MeSH; D001816.",
"definition": "An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Blue cone monochromacy.",
"acronym": "BCM.",
"accession": "DI-02866",
"synonyms": "Blue cone monochromatism.; CBBM.; Colorblindness blue-mono-cone-monochromatic type.; ",
"cross_references": "MeSH; D003117.",
"definition": "A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia. ",
"keywords": null
},
{
"identifier": "Boerjeson-Forssman-Lehmann syndrome.",
"acronym": "BFLS.",
"accession": "DI-00192",
"synonyms": "BORJ.; Borjeson-Forssman syndrome.; Mental deficiency-epilepsy- endocrine disorders.; ",
"cross_references": "MeSH; D008607.",
"definition": "An X-linked recessive disorder characterized by moderate to severe intellectual disability, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Bohring-Opitz syndrome.",
"acronym": "BOPS.",
"accession": "DI-01304",
"synonyms": "Bohring syndrome.; C-like syndrome.; Opitz trigonocephaly-like syndrome.; ",
"cross_references": "MeSH; D003398.",
"definition": "A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound intellectual disability, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Bone fragility with contractures, arterial rupture, and deafness.",
"acronym": "BCARD.",
"accession": "DI-01923",
"synonyms": "LH3 deficiency.; Lysyl hydroxylase 3 deficiency.; ",
"cross_references": "MeSH; D003240.",
"definition": "An autosomal recessive connective tissue disorder, secondary to lysyl hydroxylase 3 deficiency. It is characterized by congenital malformations severely affecting multiple tissues and organs. Clinical features include growth retardation, craniofacial dysmorphism, popliteal and cerebral aneurysm, cerebral arterial hemorrhage, skin blistering and easy bruisability, and osteopenia. ",
"keywords": null
},
{
"identifier": "Bone marrow failure and diabetes mellitus syndrome.",
"acronym": "BMFDMS.",
"accession": "DI-06507",
"synonyms": null,
"cross_references": "MeSH; D003920.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFDMS is an autosomal recessive form characterized by various degrees of bone marrow failure, ranging from dyserythropoiesis to bone marrow aplasia, with onset in infancy or early childhood, and non-autoimmune insulin-dependent diabetes mellitus appearing in the first or second decades. Many patients show pigmentary skin abnormalities and short stature. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Bone marrow failure syndrome 1.",
"acronym": "BMFS1.",
"accession": "DI-03471",
"synonyms": "BMFF.; Familial bone marrow failure.; ",
"cross_references": "MeSH; D000080983.",
"definition": "An autosomal dominant disease characterized by aplastic anemia and myelodysplasia resulting from bone marrow failure. Aplastic anemia is a form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. Myelodysplasia is a clonal hematopoietic stem cell disorder in which immature cells in the bone marrow become malformed and dysfunctional. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 2.",
"acronym": "BMFS2.",
"accession": "DI-04043",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "An autosomal recessive disorder characterized by trilineage bone marrow failure, bone marrow hypocellularity, learning difficulties, and microcephaly. Insufficient hematopoiesis results in peripheral blood cytopenias, affecting myeloid, erythroid and megakaryocyte lines. Cutaneous features and increased chromosome breakage are not features. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 3.",
"acronym": "BMFS3.",
"accession": "DI-04752",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS3 is characterized by pancytopenia with onset in early childhood. Some patients have additional variable non-specific features, including poor growth, microcephaly, and skin anomalies. BMFS3 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 4.",
"acronym": "BMFS4.",
"accession": "DI-05333",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS4 is characterized by early-onset anemia, leukopenia, decreased B cells, and developmental aberrations including facial dysmorphism, mild skeletal anomalies, and neurodevelopmental delay. BMFS4 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 5.",
"acronym": "BMFS5.",
"accession": "DI-05371",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS5 is an autosomal dominant form characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 6.",
"acronym": "BMFS6.",
"accession": "DI-05796",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS6 is an autosomal dominant form characterized by intermittent neutropenia, lymphopenia, or anemia associated with hypocellular bone marrow, and increased susceptibility to cancer. ",
"keywords": null
},
{
"identifier": "Boomerang dysplasia.",
"acronym": "BOOMD.",
"accession": "DI-01289",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae. Patients manifest dwarfism with short, bowed, rigid limbs and characteristic facies. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralization, with complete absence of ossification in some limb elements and vertebral segments. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Bosch-Boonstra-Schaaf optic atrophy syndrome.",
"acronym": "BBSOAS.",
"accession": "DI-04111",
"synonyms": null,
"cross_references": "MeSH; D029241.",
"definition": "An autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment. ",
"keywords": null
},
{
"identifier": "Bosley-Salih-Alorainy syndrome.",
"acronym": "BSAS.",
"accession": "DI-01290",
"synonyms": null,
"cross_references": "MeSH; D009421.",
"definition": "A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest intellectual disability and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation. ",
"keywords": null
}
]
}