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Items: 9

1.

Holoprosencephaly-postaxial polydactyly syndrome

Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. Incidence is unknown. Dysmorphic features include hypotelorism, severe eye anomalies such as microphthalmia or anophthalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor. [from SNOMEDCT_US]

MedGen UID:
340382
Concept ID:
C1849649
Disease or Syndrome
2.

Blue rubber bleb nevus

A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia. [from ORDO]

MedGen UID:
83401
Concept ID:
C0346072
Congenital Abnormality
3.

Pulmonary hypertension due to chronic exposure to high altitude

MedGen UID:
83314
Concept ID:
C0340552
Disease or Syndrome
4.

Thymic-renal-anal-lung dysplasia

This syndrome has characteristics of intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. It has been described in three girls born to a nonconsanguineous couple. [from SNOMEDCT_US]

MedGen UID:
336425
Concept ID:
C1848812
Congenital Abnormality; Disease or Syndrome
5.

Congenital fascial dystrophy

MedGen UID:
226997
Concept ID:
C1302740
Congenital Abnormality
6.

Idiopathic pulmonary hemosiderosis

Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients. [from ORDO]

MedGen UID:
9403
Concept ID:
C0020807
Disease or Syndrome
7.

Microcephaly-cardiac defect-lung malsegmentation syndrome

Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. [from ORDO]

MedGen UID:
371329
Concept ID:
C1832436
Disease or Syndrome
8.

Chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome

MedGen UID:
349095
Concept ID:
C1859104
Disease or Syndrome
9.

Abnormality of the respiratory system

An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. [from HPO]

MedGen UID:
866322
Concept ID:
C4018871
Anatomical Abnormality
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