Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 43

1.

Osteopetrosis

Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. [from HPO]

MedGen UID:
18223
Concept ID:
C0029454
Disease or Syndrome; Finding
2.

Distal renal tubular acidosis

Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia. [from ORDO]

MedGen UID:
879717
Concept ID:
CN200440
Disease or Syndrome
3.

Distal renal tubular acidosis

A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. [from HPO]

MedGen UID:
853429
Concept ID:
C1704380
Disease or Syndrome
4.

Osteopetrosis

Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. [from ORDO]

MedGen UID:
831363
Concept ID:
CN227101
Finding
5.

Osteopetrosis

Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. [from HPO]

MedGen UID:
506427
Concept ID:
CN116734
Finding
6.

Distal renal tubular acidosis

A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. [from HPO]

MedGen UID:
506213
Concept ID:
CN007335
Finding
7.

Renal tubular acidosis

Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. [from HPO]

MedGen UID:
505019
Concept ID:
CN001761
Finding
8.

Acidosis

Abnormal acid accumulation or depletion of base. [from HPO]

MedGen UID:
505014
Concept ID:
CN001755
Finding
9.

Osteopetrosis autosomal dominant type 2

The spectrum of CLCN7-related osteopetrosis includes infantile malignant CLCN7-related recessive osteopetrosis (ARO), intermediate autosomal osteopetrosis (IAO), and autosomal dominant osteopetrosis type II (ADOII, Albers-Schönberg disease). Onset of ARO is in infancy. Findings may include: fractures; poor growth; sclerosis of the skull base (with or without choanal stenosis or hydrocephalus) resulting in optic nerve compression, facial palsy, and hearing loss; absence of the bone marrow cavity resulting in severe anemia and thrombocytopenia; dental abnormalities, odontomas, and risk for mandibular osteomyelitis; and hypocalcemia with tetanic seizures and secondary hyperparathyroidism. Without treatment maximal life span in ARO is ten years. Onset of IAO is in childhood. Findings may include fractures after minor trauma, characteristic skeletal radiographic changes found incidentally, mild anemia, and occasional visual impairment secondary to optic nerve compression. Life expectancy in IAO is usually normal. Onset of ADOII is usually late childhood or adolescence. Findings may include: fractures (in any long bone and/or the posterior arch of a vertebra), scoliosis, hip osteoarthritis, and osteomyelitis of the mandible or septic osteitis or osteoarthritis elsewhere. Cranial nerve compression is rare. [from GeneReviews]

MedGen UID:
371629
Concept ID:
C1833700
Disease or Syndrome
10.

Distal osteosclerosis

MedGen UID:
338863
Concept ID:
C1852063
Disease or Syndrome
11.

Renal tubular acidosis

Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. [from HPO]

MedGen UID:
90
Concept ID:
C0001126
Disease or Syndrome
12.

Intellectual functioning disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
13.

Dysmorphism

MedGen UID:
832917
Concept ID:
CN228290
Finding
14.

Osteopetrosis with renal tubular acidosis

Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. [from ORDO]

MedGen UID:
830815
Concept ID:
CN202649
Disease or Syndrome
15.

Abnormal facial shape

An abnormal morphology (form) of the face or its components. [from HPO]

MedGen UID:
505048
Concept ID:
CN001810
Finding
16.

Conductive hearing impairment

An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. [from HPO]

MedGen UID:
504435
Concept ID:
CN000378
Finding
17.

Growth delay

A deficiency or slowing down of growth pre- and postnatally. [from HPO]

MedGen UID:
500905
Concept ID:
CN001379
Finding
18.

Increased bone mineral density

An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. [from HPO]

MedGen UID:
451275
Concept ID:
CN116733
Finding
19.

Hearing impairment

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
446352
Concept ID:
CN000341
Finding
20.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...