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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5440&ordering=-synonyms",
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"results": [
{
"identifier": "Fibrosis of extraocular muscles, congenital, 3A.",
"acronym": "CFEOM3A.",
"accession": "DI-02509",
"synonyms": "Congenital fibrosis of extraocular muscles 3A with or without extraocular involvement.; FEOM3.; TUBB3 syndrome.; ",
"cross_references": "MeSH; D009886.",
"definition": "A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and compensatory head positions are associated with the more severe forms of the disorder. In some cases, the ocular phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal ganglia dysmorphism, facial weakness, polyneuropathy. ",
"keywords": null
},
{
"identifier": "Diarrhea 2, with microvillus atrophy, with or without cholestasis.",
"acronym": "DIAR2.",
"accession": "DI-01979",
"synonyms": "Congenital familial protracted diarrhea with enterocyte brush-border abnormalities.; Davidson disease.; Intractable diarrhea of infancy.; Microvillus atrophy congenital.; Microvillus inclusion disease 1.; MVID1.; ",
"cross_references": "MeSH; D003968.",
"definition": "A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. ",
"keywords": null
},
{
"identifier": "Erythrokeratodermia variabilis et progressiva 1.",
"acronym": "EKVP1.",
"accession": "DI-00483",
"synonyms": "Congenital familial erythrokeratodermia figurata in plaques.; EKV.; EKVP.; Erythrokeratodermia progressive symmetric.; Erythrokeratodermia variabilis.; Erythrokeratodermia variabilis et progressiva.; Erythrokeratodermia variabilis Mendes da Costa type.; Erythrokeratodermia variabilis with erythema gyratum repens.; Greither Disease.; Keratosis palmoplantaris transgrediens et progrediens.; PSEK.; Transgrediens et progrediens palmoplantar keratoderma.; ",
"cross_references": "MeSH; D056266.",
"definition": "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"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.; "
},
{
"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 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 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 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 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 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 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 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": "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": "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": "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": "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": "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": "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": "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": "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
}
]
}