HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1300&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1260&ordering=synonyms",
"results": [
{
"identifier": "Cone-rod dystrophy 2.",
"acronym": "CORD2.",
"accession": "DI-00318",
"synonyms": "Cone-rod retinal dystrophy 2.; CRD2.; ",
"cross_references": "MeSH; D058499.",
"definition": "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Pancreatic lipase deficiency.",
"acronym": "PNLIPD.",
"accession": "DI-05008",
"synonyms": "Congenital absence of pancreatic lipase.; PL deficiency.; ",
"cross_references": "MeSH; D008052.",
"definition": "An autosomal recessive disorder characterized by exocrine pancreatic failure. Clinical findings include oily/greasy stools from infancy or early childhood, absence of discernible pancreatic disease, and significantly decreased pancreatic lipolytic activity. ",
"keywords": null
},
{
"identifier": "Marsili syndrome.",
"acronym": "MARSIS.",
"accession": "DI-05171",
"synonyms": "Congenital analgesia, autosomal dominant.; Insensitivity to pain, congenital, autosomal dominant.; ",
"cross_references": "MeSH; D000699.",
"definition": "An autosomal dominant disorder characterized by congenital pain insensitivity. Painless cutaneous thermal burns and bone fractures are present in affected individuals. Corneal reflex is absent, sweating is decreased or absent. Patients have normal cognitive abilities, and display no evidence of distal weakness. ",
"keywords": null
},
{
"identifier": "Atrichia with papular lesions.",
"acronym": "APL.",
"accession": "DI-00154",
"synonyms": "Congenital atrichia.; Papular atrichia.; ",
"cross_references": "MeSH; D000505.",
"definition": "An autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair. ",
"keywords": null
},
{
"identifier": "Question mark ears, isolated.",
"acronym": "QME.",
"accession": "DI-04053",
"synonyms": "Congenital auricular cleft.; Cosman deformity of the auricle.; Prominent and constricted ears.; ",
"cross_references": "MeSH; D004427.",
"definition": "An auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. ",
"keywords": null
},
{
"identifier": "Vertical talus, congenital.",
"acronym": "CVT.",
"accession": "DI-01422",
"synonyms": "Congenital convex pes valgus.; Rocker-bottom foot deformity.; ",
"cross_references": "MeSH; D005532.",
"definition": "A rare malformation characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence. ",
"keywords": null
},
{
"identifier": "Schwannomatosis 1.",
"acronym": "SWN1.",
"accession": "DI-02287",
"synonyms": "Congenital cutaneous neurilemmomatosis.; SWNTS1.; ",
"cross_references": "MeSH; D009442.",
"definition": "An autosomal dominant tumor predisposition syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas on cranial, spinal, and peripheral nerves, without involvement of the vestibular nerve. Affected individuals may also have multiple meningiomas. ",
"keywords": null
},
{
"identifier": "Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive.",
"acronym": "SHFM1D.",
"accession": "DI-03391",
"synonyms": "Congenital deafness and split hands and feet.; ",
"cross_references": "MeSH; D017880.",
"definition": "A disease characterized by the association of split-hand/foot malformation with deafness. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have intellectual disability, ectodermal and craniofacial findings, and orofacial clefting. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Deafness with labyrinthine aplasia, microtia and microdontia.",
"acronym": "LAMM.",
"accession": "DI-01475",
"synonyms": "Congenital deafness with inner ear agenesis, microtia and microdontia.; ",
"cross_references": "MedGen; C1853144.",
"definition": "Unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia). ",
"keywords": null
},
{
"identifier": "Vohwinkel syndrome.",
"acronym": "VOWNKL.",
"accession": "DI-01129",
"synonyms": "Congenital deafness with keratopachydermia and constrictions of fingers and toes.; Keratoderma hereditarium mutilans.; KHM.; Mutilating keratoderma.; ",
"cross_references": "MeSH; D017880.",
"definition": "An autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness. ",
"keywords": "KW-0209:Deafness.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Aplasia cutis congenita, non-syndromic.",
"acronym": "ACC.",
"accession": "DI-04202",
"synonyms": "Congenital defect of skull and scalp.; Congenital scalp defect.; ",
"cross_references": "MeSH; D004476.",
"definition": "A disorder characterized by congenital absence of a portion of skin in a localized or widespread area of the body. The lesions are most commonly localized on the scalp, however aplasia cutis congenita can affect any part of the body. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Congenital disorder of glycosylation 1AA.",
"acronym": "CDG1AA.",
"accession": "DI-04809",
"synonyms": "Congenital disorder of glycosylation, type 1aa.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1AA inheritance is autosomal recessive. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 2V.",
"acronym": "CDG2V.",
"accession": "DI-06213",
"synonyms": "Congenital disorder of glycosylation, type 2V.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2V is an autosomal recessive form characterized by neurodevelopmental delay and variable facial dysmorphic features. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 1CC.",
"acronym": "CDG1CC.",
"accession": "DI-05648",
"synonyms": "Congenital disorder of glycosylation, type Icc.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1CC is an X-linked recessive form mainly characterized by intellectual and developmental disability. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 2AA.",
"acronym": "CDG2AA.",
"accession": "DI-06728",
"synonyms": "Congenital disorder of glycosylation, type IIaa.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2AA is an autosomal recessive, early fatal form characterized by severe liver disease, skeletal abnormalities, and protein glycosylation defects. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 2R.",
"acronym": "CDG2R.",
"accession": "DI-05804",
"synonyms": "Congenital disorder of glycosylation, type IIr.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2R is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some patients may also have mild intellectual impairment and dysmorphic features. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 2W.",
"acronym": "CDG2W.",
"accession": "DI-06226",
"synonyms": "Congenital disorder of glycosylation, type IIw.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2W is an autosomal dominant disorder characterized by liver dysfunction and coagulation deficiencies. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 2Y.",
"acronym": "CDG2Y.",
"accession": "DI-06593",
"synonyms": "Congenital disorder of glycosylation, type IIy.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2Y is an autosomal recessive form characterized by poor overall growth and global developmental delay with impaired intellectual development. Other features may include hypotonia, seizures, brain imaging abnormalities, dysmorphic features, and various skeletal defects. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 2Z.",
"acronym": "CDG2Z.",
"accession": "DI-06594",
"synonyms": "Congenital disorder of glycosylation, type IIz.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2Z is an autosomal recessive form characterized by a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities. Biochemically, CDG2Z is characterized by combined O- and N-linked glycosylation defects. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 1W, autosomal dominant.",
"acronym": "CDG1WAD.",
"accession": "DI-06319",
"synonyms": "Congenital disorder of glycosylation, type Iw, autosomal dominant.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1WAD patients show variable skeletal anomalies, short stature, macrocephaly, and dysmorphic features. Some have impaired intellectual development. Additional features include increased muscle tone and muscle cramps. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
}
]
}