{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4940&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4900&ordering=identifier","results":[{"identifier":"Noonan syndrome 12.","acronym":"NS12.","accession":"DI-05677","synonyms":null,"cross_references":"MeSH; D009634.","definition":"A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS12 inheritance is autosomal dominant. There is considerable variability in severity. ","keywords":null},{"identifier":"Noonan syndrome 13.","acronym":"NS13.","accession":"DI-05961","synonyms":null,"cross_references":"MeSH; D009634.","definition":"A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS13 inheritance is autosomal dominant. There is considerable variability in severity. ","keywords":null},{"identifier":"Noonan syndrome 14.","acronym":"NS14.","accession":"DI-06344","synonyms":null,"cross_references":"MeSH; D009634.","definition":"A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. NS14 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Noonan syndrome 2.","acronym":"NS2.","accession":"DI-05439","synonyms":"Noonan syndrome 2, autosomal recessive.; ","cross_references":"MeSH; D009634.","definition":"A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS2 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Noonan syndrome 3.","acronym":"NS3.","accession":"DI-02073","synonyms":null,"cross_references":"MeSH; D009634.","definition":"A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. ","keywords":null},{"identifier":"Noonan syndrome 4.","acronym":"NS4.","accession":"DI-02074","synonyms":null,"cross_references":"MeSH; D009634.","definition":"A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS4 have polyarticular villonodular synovitis. ","keywords":null},{"identifier":"Noonan syndrome 5.","acronym":"NS5.","accession":"DI-02075","synonyms":null,"cross_references":"MeSH; D009634.","definition":"A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. ","keywords":null},{"identifier":"Noonan syndrome 6.","acronym":"NS6.","accession":"DI-02558","synonyms":null,"cross_references":"MeSH; D009634.","definition":"A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. ","keywords":null},{"identifier":"Noonan syndrome 7.","acronym":"NS7.","accession":"DI-02990","synonyms":null,"cross_references":"MeSH; D009634.","definition":"A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. ","keywords":null},{"identifier":"Noonan syndrome 8.","acronym":"NS8.","accession":"DI-03849","synonyms":null,"cross_references":"MeSH; D009634.","definition":"A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. ","keywords":null},{"identifier":"Noonan syndrome 9.","acronym":"NS9.","accession":"DI-04518","synonyms":null,"cross_references":"MeSH; D009634.","definition":"A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. ","keywords":null},{"identifier":"Noonan syndrome-like disorder with loose anagen hair 1.","acronym":"NSLH1.","accession":"DI-02076","synonyms":"Mazzanti syndrome.; NSLH.; Tosti syndrome.; ","cross_references":"MeSH; D019465.","definition":"A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair. ","keywords":null},{"identifier":"Noonan syndrome-like disorder with loose anagen hair 2.","acronym":"NSLH2.","accession":"DI-05011","synonyms":null,"cross_references":"MeSH; D019465.","definition":"A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair. ","keywords":null},{"identifier":"Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.","acronym":"NSLL.","accession":"DI-02913","synonyms":null,"cross_references":"MeSH; D019465.","definition":"A syndrome characterized by a phenotype reminiscent of Noonan syndrome. Clinical features are highly variable, including facial dysmorphism, short neck, developmental delay, hyperextensible joints and thorax abnormalities with widely spaced nipples. The facial features consist of triangular face with hypertelorism, large low-set ears, ptosis, and flat nasal bridge. Some patients manifest cardiac defects. Some have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia. ","keywords":null},{"identifier":"Norrie disease.","acronym":"ND.","accession":"DI-02079","synonyms":"Atrophia bulborum hereditaria.; Episkopi blindness.; ","cross_references":"MedGen; C0266526.","definition":"Recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure. ","keywords":null},{"identifier":"North American Indian childhood cirrhosis.","acronym":"NAIC.","accession":"DI-02080","synonyms":null,"cross_references":"MedGen; C1858051.","definition":"Severe autosomal recessive intrahepatic cholestasis, originally described in Ojibway-Cree children from northwestern Quebec. NAIC typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. Biochemical and histopathological features suggest involvement of the bile ducts rather than of the bile canaliculi. They include elevated gamma glutamyltransferase and alkaline phosphatase levels, and, typically, marked fibrosis around bile ducts. Clinically, NAIC is distinct from other nonsyndromic familial cholestases because of its marked cholangiopathic features and severe degree of fibrosis on liver histology. ","keywords":null},{"identifier":"N-terminal acetyltransferase deficiency.","acronym":"NATD.","accession":"DI-03266","synonyms":"Ogden syndrome.; OGDNS.; ","cross_references":"MeSH; D001848.","definition":"An enzymatic deficiency resulting in postnatal growth failure with severe delays and dysmorphic features. It is clinically characterized by wrinkled forehead, prominent eyes, widely opened anterior and posterior fontanels, downsloping palpebral fissures, thickened lids, large ears, flared nares, hypoplastic alae, short columella, protruding upper lip, and microretrognathia. There are also delayed closing of fontanels and broad great toes. Skin is characterized by redundancy or laxity with minimal subcutaneous fat, cutaneous capillary malformations, and very fine hair and eyebrows. Death results from cardiogenic shock following arrhythmia. ","keywords":null},{"identifier":"Nystagmus 1, congenital, X-linked.","acronym":"NYS1.","accession":"DI-02439","synonyms":"Nystagmus 1 infantile X-linked.; Nystagmus congenital motor 1.; Nystagmus infantile idiopathic.; Nystagmus infantile periodic alternating X-linked.; XIPAN.; XLPAN.; ","cross_references":"MeSH; D020417.","definition":"A form of nystagmus, a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. ","keywords":null},{"identifier":"Nystagmus 6, congenital, X-linked.","acronym":"NYS6.","accession":"DI-02828","synonyms":null,"cross_references":"MeSH; D020417.","definition":"A form of nystagmus, a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. ","keywords":null},{"identifier":"Nystagmus 8, congenital, autosomal recessive.","acronym":"NYS8.","accession":"DI-06638","synonyms":null,"cross_references":"MeSH; D020417.","definition":"A form of nystagmus, a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. NYS8 patients manifest bilateral horizontal nystagmus in the absence of other neurologic signs or symptoms. Brain imaging is normal. ","keywords":null}]}