All terms in HP_DEV

Label Id Description
Episodic metabolic acidosis HP_0004911 [Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.]
Metabolic acidosis HP_0001942 [Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.]
Hypophosphatemic rickets HP_0004912
Hypophosphatemia HP_0002148 [An abnormally decreased phosphate concentration in the blood.]
Rickets HP_0002748 [Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.]
pedal digitopodium bone UBERON_0012359 [A bone that is part of a the pedal digitopodium skeleton - i.e. the toes or the metatarsal skeleton.]
pes bone UBERON_0005899 [A bone that is part of the pes skeleton.]
digitopodium bone UBERON_0012357 [A bone that is part of a the digitopodium skeleton - i.e. the acropodial skeleton or the metapodial skeleton.]
Bicarbonate-wasting renal tubular acidosis HP_0004910
Renal tubular acidosis HP_0001947 [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.]
syncytiotrophoblast UBERON_0000371 [Extraembryonic cells of trophoblastic shell surrounding embryo, outside the cytotrophoblast layer, involved with implantation of the blastocyst by eroding extracellular matrix surrounding maternal endometrial cells at site of implantation, also contribute to villi. (dark staining, multinucleated).]
mandibular nerve UBERON_0000375 [The motor and sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini.]
tongue muscle UBERON_0000378 [The muscular portion of the tongue.]
digestive system element UBERON_0013765 [Any of the organs or elements that are part of the digestive system. Examples: tongue, esophagus, spleen, crop, lunge feeding organ, tooth elements.]
maxillary nerve UBERON_0000377 [The sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the palate, upper teeth and gingiva, the skin between the palpebral fissure and the mouth, and from the nasal cavity and maxillary sinuses.]
hindlimb stylopod UBERON_0000376 [The part of the hindlimb between pelvis and the knee, corresponding to the femur.]
lower limb segment UBERON_0008784 [A limb segment that is part of a hindlimb.]
stylopod UBERON_0002472 [The proximal free limb segment. Includes as parts the stylopod skeleton.]
corpus striatum UBERON_0000369 [The corpus striatum (striated body) is a compound structure consisting of the caudate nucleus and the lentiform nucleus, which consists of the putamen and the globus pallidus[WP].]
regional part of brain UBERON_0002616 [Anatomical divisons of the brain according to one or more criteria, e.g. cytoarchitectural, gross anatomy. Parts may be contiguous in 3D or not, e.g., basal ganglia.]