Gene: DYNC2H1
Cytoband position: 11q22.3
OMIM: 603297
RVIS score: -0.35
RVIS percentage: 29.56
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| External genital hypoplasia | HP:0003241 | HP:0003245 | Underdevelopment of part or all of the external reproductive organs. |
| Abdominal distention | HP:0003270 | HP:0003364 | Distention of the abdomen. |
| Aplasia/Hypoplasia of the ulna | HP:0006495 | HP:0006410 | Absence or underdevelopment of the ulna. |
| Aplasia/hypoplasia involving forearm bones | HP:0006503 | None | Absence (due to failure to form) or underdevelopment of one or more forearm bones. |
| Aplasia/Hypoplasia of the lungs | HP:0006703 | None | None |
| Abnormality of limbs | HP:0040064 | None | None |
| Bifid epiglottis | HP:0010564 | None | A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. |
| Intracranial cystic lesion | HP:0010576 | None | A cystic lesion originating within the brain. |
| Cone-shaped epiphysis | HP:0010579 | HP:0006078 | Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. |
| Abnormality of the curvature of the vertebral column | HP:0010674 | None | The presence of an abnormal curvature of the vertebral column. |
| Abdominal wall defect | HP:0010866 | None | An incomplete closure of the abdominal wall. |
| Abnormality of the upper urinary tract | HP:0010935 | None | An abnormality of the upper urinary tract. |
| Abnormality of the lower urinary tract | HP:0010936 | None | An abnormality of the lower urinary tract. |
| Abnormal renal pelvis morphology | HP:0010944 | None | An abnormality of the renal pelvis. |
| Dilatation of the renal pelvis | HP:0010946 | None | The presence of dilatation of the renal pelvis. |
| Abnormal fourth ventricle morphology | HP:0010950 | None | An abnormality of the fourth ventricle. |
| Digenic inheritance | HP:0010984 | None | A type of multifactorial inheritance governed by the simultaneous action of two gene loci. |
| Abnormality of the cerebral subcortex | HP:0010993 | None | An abnormality of the cerebral subcortex. |
| Abnormality of the gastrointestinal tract | HP:0011024 | None | An abnormality of the gastrointestinal tract. |
| Abnormal hip joint morphology | HP:0001384 | None | An abnormality of the hip joint. |
| Abnormality of the urinary system | HP:0000079 | None | An abnormality of the urinary system. |
| Pulmonary hypoplasia | HP:0002089 | None | None |
| Respiratory insufficiency | HP:0002093 | HP:0006542 | None |
| Ventriculomegaly | HP:0002119 | HP:0007071 | An increase in size of the ventricular system of the brain. |
| Abnormality of lower limb joint | HP:0100491 | HP:0100239 | None |
| Dilated fourth ventricle | HP:0002198 | HP:0007223 | An abnormal dilatation of the fourth cerebral ventricle. |
| Abnormality of forebrain morphology | HP:0100547 | None | An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. |
| Abnormal intestine morphology | HP:0002242 | HP:0002628 | An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. |
| Abnormally ossified vertebrae | HP:0100569 | None | An abnormality of the formation and mineralization of one or more vertebrae. |
| Urogenital fistula | HP:0100589 | None | The presence of a fistula affecting the genitourinary system. |
| Abnormal lung development | HP:4000059 | None | A structural defect associated with abnormal development of the lung. |
| Abnormal cerebellar vermis morphology | HP:0002334 | None | An anomaly of the vermis of cerebellum. |
| Neoplasm of the oral cavity | HP:0100649 | None | A tumor (abnormal growth of tissue) of the oral cavity. |
| Neoplasm of the tongue | HP:0100648 | None | A tumor (abnormal growth of tissue) of the tongue. |
| Cerebellar cyst | HP:0002350 | None | None |
| Abnormal hard palate morphology | HP:0100737 | None | None |
| Cerebellar malformation | HP:0002438 | None | None |
| Hernia | HP:0100790 | None | None |
| Abnormal cerebral white matter morphology | HP:0002500 | HP:0200100 | An abnormality of the cerebral white matter. |
| Gastrointestinal atresia | HP:0002589 | None | None |
| Congenital hepatic fibrosis | HP:0002612 | None | The presence of fibrosis of that part of the liver with congenital onset. |
| Abnormality of pelvic girdle bone morphology | HP:0002644 | None | An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. |
| Scoliosis | HP:0002650 | HP:0003415 | The presence of an abnormal lateral curvature of the spine. |
| Skeletal dysplasia | HP:0002652 | HP:0005685 | A general term describing features characterized by abnormal development of bones and connective tissues. |
| Abnormal renal medulla morphology | HP:0100957 | HP:0005582 | Any structural abnormality of the medulla of the kidney. |
| Neoplasm | HP:0002664 | HP:0006741 | An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). |
| Abnormality of the calvaria | HP:0002683 | None | Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone. |
| Abnormal respiratory system physiology | HP:0002795 | None | None |
| Abnormality of limb bone morphology | HP:0002813 | None | Any abnormality of bones of the arms or legs. |
| Abnormality of the lower limb | HP:0002814 | None | An abnormality of the leg. |
| Abnormality of the upper limb | HP:0002817 | HP:0003838 | An abnormality of the arm. |
| Abnormality of femur morphology | HP:0002823 | HP:0001439 | Any anomaly of the structure of the femur. |
| Abnormality of the forearm | HP:0002973 | None | An abnormality of the lower arm. |
| Aplasia/Hypoplasia involving the central nervous system | HP:0002977 | HP:0001323 | Absence or underdevelopment of tissue in the central nervous system. |
| Bowing of the legs | HP:0002979 | HP:0006428 | A bending or abnormal curvature affecting a long bone of the leg. |
| Femoral bowing | HP:0002980 | HP:0004998 | Bowing (abnormal curvature) of the femur. |
| Abnormality of the calf | HP:0002981 | None | An abnormality of the calf, i.e. of the posterior part of the lower leg. |
| Micromelia | HP:0002983 | HP:0005753 | The presence of abnormally small extremities. |
| Abnormality of fibula morphology | HP:0002991 | None | An anomaly of the calf bone (fibula), one of the two bones of the calf. |
| Abnormality of tibia morphology | HP:0002992 | None | Abnormality of the tibia (shinbone). |
| Abnormality of the ulna | HP:0002997 | None | An abnormality of the ulna bone of the forearm. |
| Metaphyseal widening | HP:0003016 | HP:0005074 | Abnormal widening of the metaphyseal regions of long bones. |
| Hypoplasia of the ulna | HP:0003022 | HP:0006444 | Underdevelopment of the ulna. |
| Short long bone | HP:0003026 | HP:0006472 | One or more abnormally short long bone. |
| Fibular hypoplasia | HP:0003038 | HP:0006401 | Underdevelopment of the fibula. |
| Abnormal hip bone morphology | HP:0003272 | None | An abnormality of the hip bone. |
| Abnormal bone structure | HP:0003330 | None | Any anomaly in the composite material or the layered arrangement of the bony skeleton. |
| Abnormal vertebral morphology | HP:0003468 | HP:0005719 | An abnormality of one or more of the vertebrae. |
| Disproportionate short stature | HP:0003498 | HP:0008900 | A kind of short stature in which different regions of the body are shortened to differing extents. |
| Abnormality of connective tissue | HP:0003549 | None | Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). |
| Uterus didelphys | HP:0003762 | None | A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. |
| Abnormal 5th finger morphology | HP:0004207 | None | An abnormality affecting one or both 5th fingers. |
| Duplication of hand bones | HP:0004275 | None | None |
| Short palm | HP:0004279 | HP:0001165 | Short palm. |
| Abnormality of the abdominal wall | HP:0004298 | HP:0001462 | The presence of any abnormality affecting the abdominal wall. |
| Hernia of the abdominal wall | HP:0004299 | None | The presence of a hernia in the abdominal wall. |
| Vaginal fistula | HP:0004320 | None | The presence of a fistula of the vagina. |
| Short stature | HP:0004322 | HP:0008913 | A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). |
| Abnormal anterior eye segment morphology | HP:0004328 | None | An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). |
| Abnormal posterior eye segment morphology | HP:0004329 | None | None |
| Abnormality of the anus | HP:0004378 | None | Abnormality of the anal canal. |
| Ectopic anus | HP:0004397 | None | Abnormal displacement or malposition of the anus. |
| Absent or minimally ossified vertebral bodies | HP:0004599 | None | None |
| Metaphyseal spurs | HP:0005054 | HP:0005088 | Bony outgrowths that extend laterally from the margin of the metaphysis. |
| Abnormal nasal morphology | HP:0005105 | None | None |
| Thoracic hypoplasia | HP:0005257 | HP:0001590 | None |
| Abnormality of the synovia | HP:0005262 | None | None |
| Depressed nasal bridge | HP:0005280 | HP:0005284 | Posterior positioning of the nasal root in relation to the overall facial profile for age. |
| Enlarged posterior fossa | HP:0005445 | None | Abnormal increased size of the posterior cranial fossa. |
| Abnormal epiglottis morphology | HP:0005483 | None | An abnormality of the epiglottis. |
| Lethal skeletal dysplasia | HP:0005716 | HP:0008898 | None |
| Aplasia/Hypoplasia of the tibia | HP:0005772 | None | Absence or underdevelopment of the tibia. |
| Abnormal finger phalanx morphology | HP:0005918 | HP:0006259 | Abnormalities affecting the phalanx of finger. |
| Aplasia/hypoplasia involving bones of the hand | HP:0005927 | None | Absence (due to failure to form) or underdevelopment of the bones of the hand. |
| Abnormality of epiphysis morphology | HP:0005930 | HP:0000936 | An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. |
| Bowing of the long bones | HP:0006487 | HP:0006452 | A bending or abnormal curvature of a long bone. |
| Aplasia/Hypoplasia of the fibula | HP:0006492 | HP:0006421 | Absence or underdevelopment of the fibula. |
| Aplasia/hypoplasia involving bones of the lower limbs | HP:0006493 | None | Absence (due to failure to form) or underdevelopment of the bones of the lower limbs. |
| Aplasia/Hypoplasia involving bones of the feet | HP:0006494 | None | None |
| Aplasia/Hypoplasia involving bones of the thorax | HP:0006711 | None | None |
| Aplasia/Hypoplasia of the ribs | HP:0006712 | HP:0006636 | None |
| Aplasia/Hypoplasia of the cerebellar vermis | HP:0006817 | HP:0007080 | Absence or underdevelopment of the vermis of cerebellum. |
| Abnormality of limb bone | HP:0040068 | None | None |
| Abnormal lower limb bone morphology | HP:0040069 | HP:0040066 | None |
| Abnormal upper limb bone morphology | HP:0040070 | None | None |
| Abnormal morphology of ulna | HP:0040071 | None | None |
| Abnormality of forearm bone | HP:0040072 | None | None |
| Abnormal forearm bone morphology | HP:0040073 | None | None |
| Aplasia/Hypoplasia of the cerebellum | HP:0007360 | HP:0007368 | None |
| Aplasia/Hypoplasia of the cerebrum | HP:0007364 | None | None |
| Aplasia/Hypoplasia of the corpus callosum | HP:0007370 | HP:0007137 | Absence or underdevelopment of the corpus callosum. |
| Abnormality of retinal pigmentation | HP:0007703 | HP:0008051 | None |
| Abnormality of the digestive system | HP:0025031 | None | None |
| Abnormality of digestive system physiology | HP:0025032 | None | A functional anomaly of the digestive system. |
| Abnormality of digestive system morphology | HP:0025033 | None | A structural anomaly of the digestive system. |
| Renal hypoplasia/aplasia | HP:0008678 | HP:0008701 | Absence or underdevelopment of the kidney. |
| Urethrovaginal fistula | HP:0008716 | None | The presence of a fistula between the vagina and the urethra. |
| Hypoplasia of penis | HP:0008736 | HP:0008632 | None |
| Disproportionate short-limb short stature | HP:0008873 | HP:0008928 | A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. |
| Abnormal larynx morphology | HP:0025423 | None | Any anomaly of the structure of the larynx. |
| Abnormal pelvis bone ossification | HP:0009106 | None | An abnormality of the formation and mineralization of any bone of the bony pelvis. |
| Aplasia/hypoplasia involving the skeleton | HP:0009115 | None | Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. |
| Aplasia/Hypoplasia involving bones of the skull | HP:0009116 | None | None |
| Aplasia/Hypoplasia of the mandible | HP:0009118 | None | Absence or underdevelopment of the mandible. |
| Abnormal axial skeleton morphology | HP:0009121 | None | An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. |
| Aplasia/hypoplasia affecting bones of the axial skeleton | HP:0009122 | None | Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. |
| Duplication involving bones of the feet | HP:0009136 | None | None |
| Duplication of bones involving the upper extremities | HP:0009142 | None | None |
| Absent tibia | HP:0009556 | None | Absence of the tibia. |
| Aplasia/hypoplasia of the extremities | HP:0009815 | HP:0006497 | Absence (due to failure to form) or underdevelopment of the extremities. |
| Aplasia involving bones of the lower limbs | HP:0009817 | None | None |
| Forearm undergrowth | HP:0009821 | HP:0006405 | Forearm shortening because of underdevelopment of one or more bones of the forearm. |
| Upper limb undergrowth | HP:0009824 | HP:0006364 | Arm shortening because of underdevelopment of one or more bones of the upper extremity. |
| Aplasia involving bones of the extremities | HP:0009825 | None | None |
| Limb undergrowth | HP:0009826 | HP:0005057 | Limb shortening because of underdevelopment of one or more bones of the extremities. |
| Duplication of phalanx of hand | HP:0009997 | HP:0009143 | This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. |
| Bifid tongue | HP:0010297 | None | Tongue with a median apical indentation or fork. |
| Short thorax | HP:0010306 | None | Reduced inferior to superior extent of the thorax. |
| Abnormality of the 5th toe | HP:0010322 | None | An anomaly of the little toe. |
| Polydactyly | HP:0010442 | HP:0009605 | A congenital anomaly characterized by the presence of supernumerary fingers or toes. |
| Acetabular spurs | HP:0010454 | None | The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum. |
| Abnormality of the female genitalia | HP:0010460 | None | Abnormality of the female genital system. |
| Abnormality of the male genitalia | HP:0010461 | None | Abnormality of the male genital system. |
| Urethral fistula | HP:0010480 | None | The presence of an abnormal connection between the urethra and another organ or the skin. |
| Abnormality of fluid regulation | HP:0011032 | None | An abnormality of the regulation of body fluids. |
| Abnormal shape of the frontal region | HP:0011218 | None | An abnormal shape of the frontal part of the head. |
| Abnormality of the urinary system physiology | HP:0011277 | None | None |
| Abnormality of hindbrain morphology | HP:0011282 | None | An abnormality of the hindbrain, also known as the rhombencephalon. |
| Abnormal metencephalon morphology | HP:0011283 | None | An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. |
| Abnormal digit morphology | HP:0011297 | None | A morphological abnormality of a digit, i.e., of a finger or toe. |
| Abnormality of long bone morphology | HP:0011314 | HP:0100715 | An abnormality of size or shape of the long bones. |
| Abdominal symptom | HP:0011458 | None | A subjective manifestation of disease localized to the abdomen. |
| Neoplasm by anatomical site | HP:0011793 | None | Neoplasm categorized according to the anatomical site of origin of the neoplasm. |
| Hamartoma of tongue | HP:0011802 | None | A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. |
| Abnormality of facial skeleton | HP:0011821 | None | An abnormality of one or more of the set of bones that make up the facial skeleton. |
| Abnormality of skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| Abnormal appendicular skeleton morphology | HP:0011844 | None | An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. |
| Short digit | HP:0011927 | None | One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. |
| Feeding difficulties | HP:0011968 | None | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
| Abnormal renal morphology | HP:0012210 | HP:0008712 | Any structural anomaly of the kidney. |
| Abnormal renal physiology | HP:0012211 | HP:0008646 | An abnormal functionality of the kidney. |
| Abnormal reproductive system morphology | HP:0012243 | None | A structural or developmental anomaly of any of the tissues involved in the genital system. |
| Abnormal respiratory system morphology | HP:0012252 | None | A structural anomaly of the respiratory system. |
| Aplasia/hypoplasia involving bones of the extremities | HP:0045060 | None | None |
| Abnormal homeostasis | HP:0012337 | None | An anomaly in the processes involved in the maintenance of an internal equilibrium. |
| Abnormal eye morphology | HP:0012372 | HP:0012374 | A structural anomaly of the globe of the eye, or bulbus oculi. |
| Abnormality of brain morphology | HP:0012443 | None | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| Abnormal nervous system morphology | HP:0012639 | None | A structural anomaly of the nervous system. |
| Morphological abnormality of the gastrointestinal tract | HP:0012718 | None | Abnormal structure of the gastrointestinal tract. |
| Anorectal anomaly | HP:0012732 | None | An abnormality of the anus or rectum. |
| Abnormal ocular adnexa morphology | HP:0030669 | None | A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. |
| Abnormality of cardiovascular system morphology | HP:0030680 | HP:0002565 | Any structural anomaly of the heart and great vessels. |
| Central nervous system cyst | HP:0030724 | None | A fluid-filled sac (cyst) located within the central nervous system. |
| Abnormal jaw morphology | HP:0030791 | None | A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. |
| Abnormal tongue morphology | HP:0030809 | None | Any structural anomaly of the tongue. |
| Abnormal uterus morphology | HP:0031105 | None | Any anomaly of the structure of the uterus |
| Abnormal oral morphology | HP:0031816 | None | Any structural anomaly of the mouth, which is also known as the oral cavity. |
| Abnormality of the genital system | HP:0000078 | None | An abnormality of the genital system. |
| Abnormal morphology of female internal genitalia | HP:0000008 | None | An abnormality of the female internal genitalia. |
| Cryptorchidism | HP:0000028 | HP:0000797 | Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. |
| Abnormality of male external genitalia | HP:0000032 | None | An abnormality of male external genitalia. |
| Abnormal testis morphology | HP:0000035 | None | An anomaly of the testicle (the male gonad). |
| Abnormal penis morphology | HP:0000036 | None | Abnormality of the male external sex organ. |
| Micropenis | HP:0000054 | HP:0000038 | Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. |
| Abnormality of the kidney | HP:0000077 | None | An abnormality of the kidney. |
| Abnormality of the genitourinary system | HP:0000119 | HP:0008713 | The presence of any abnormality of the genitourinary system. |
| Hydronephrosis | HP:0000126 | None | Severe distention of the kidney with dilation of the renal pelvis and calices. |
| Abnormality of the uterus | HP:0000130 | HP:0008692 | An abnormality of the uterus. |
| Abnormal vagina morphology | HP:0000142 | HP:0008650 | Any structural abnormality of the vagina. |
| Abnormality of head or neck | HP:0000152 | None | An abnormality of head and neck. |
| Abnormality of the mouth | HP:0000153 | None | An abnormality of the mouth. |
| Abnormality of the tongue | HP:0000157 | None | Any abnormality of the tongue. |
| Abnormal lip morphology | HP:0000159 | None | An abnormality of the lip. |
| Abnormal oral cavity morphology | HP:0000163 | None | Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. |
| Abnormal palate morphology | HP:0000174 | None | Any abnormality of the palate, i.e., of roof of the mouth. |
| Cleft palate | HP:0000175 | HP:0410004 | Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). |
| Abnormality of upper lip | HP:0000177 | None | An abnormality of the upper lip. |
| Cleft upper lip | HP:0000204 | None | A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| Abnormality of skull size | HP:0000240 | None | Any abnormality of the size of the skull. |
| Macrocephaly | HP:0000256 | HP:0200135 | Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. |
| Abnormality of the face | HP:0000271 | None | An abnormality of the face. |
| Abnormality of the mandible | HP:0000277 | HP:0000209 | Any abnormality of the mandible, the bone of the lower jaw. |
| Epicanthus | HP:0000286 | HP:0007930 | A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. |
| Abnormality of the philtrum | HP:0000288 | HP:0011216 | An abnormality of the philtrum. |
| Abnormality of the forehead | HP:0000290 | None | An anomaly of the forehead. |
| Abnormality of the orbital region | HP:0000315 | HP:0000284 | None |
| Long philtrum | HP:0000343 | None | Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. |
| Micrognathia | HP:0000347 | HP:0005470 | Developmental hypoplasia of the mandible. |
| Abnormality of the musculoskeletal system | HP:0033127 | None | An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. |
| Abnormality of the nose | HP:0000366 | None | An abnormality of the nose. |
| Abnormal nasal bridge morphology | HP:0000422 | HP:0000423 | Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. |
| Cleft lip | HP:0410030 | None | A gap in the lip or lips. |
| Abnormal liver morphology | HP:0410042 | None | Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. |
| Wide nose | HP:0000445 | HP:0000438 | Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. |
| Abnormality of the eye | HP:0000478 | None | Any abnormality of the eye, including location, spacing, and intraocular abnormalities. |
| Abnormal retinal morphology | HP:0000479 | HP:0007938 | A structural abnormality of the retina. |
| Horizontal ribs | HP:0000888 | None | A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. |
| Abnormal clavicle morphology | HP:0000889 | None | Any abnormality of the clavicles (collar bones). |
| Lateral clavicle hook | HP:0000895 | None | An excessive upward convexity of the lateral clavicle. |
| Abnormality of the skeletal system | HP:0000924 | None | An abnormality of the skeletal system. |
| Abnormality of the vertebral column | HP:0000925 | None | Any abnormality of the vertebral column. |
| Abnormal skull morphology | HP:0000929 | None | An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. |
| Abnormal diaphysis morphology | HP:0000940 | HP:0006504 | An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. |
| Abnormality of the metaphysis | HP:0000944 | HP:0006506 | An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. |
| Edema | HP:0000969 | HP:0000990 | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| Abnormal fundus morphology | HP:0001098 | None | Any structural abnormality of the fundus of the eye. |
| Abnormality of the hand | HP:0001155 | HP:0005858 | An abnormality affecting one or both hands. |
| Brachydactyly | HP:0001156 | HP:0100667 | Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. |
| Hand polydactyly | HP:0001161 | None | A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. |
| Postaxial hand polydactyly | HP:0001162 | HP:0009984 | Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). |
| Abnormality of finger | HP:0001167 | HP:0003035 | An anomaly of a finger. |
| Abnormal thumb morphology | HP:0001172 | None | An abnormal structure of the first digit of the hand. |
| Preaxial hand polydactyly | HP:0001177 | HP:0009604 | Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. |
| Abnormality of prenatal development or birth | HP:0001197 | None | An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. |
| Abnormal corpus callosum morphology | HP:0001273 | HP:0007323 | Abnormality of the corpus callosum. |
| Agenesis of corpus callosum | HP:0001274 | HP:0006800 | Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. |
| Abnormal cerebellum morphology | HP:0001317 | None | Any structural abnormality of the cerebellum. |
| Cerebellar vermis hypoplasia | HP:0001320 | None | Underdevelopment of the vermis of cerebellum. |
| Abnormal joint morphology | HP:0001367 | None | An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. |
| Abnormality of the liver | HP:0001392 | None | An abnormality of the liver. |
| Hepatic fibrosis | HP:0001395 | None | The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. |
| Multifactorial inheritance | HP:0001426 | HP:0001472 | A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. |
| Growth delay | HP:0001510 | HP:0008926 | A deficiency or slowing down of growth pre- and postnatally. |
| Omphalocele | HP:0001539 | None | A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. |
| Abnormal rib cage morphology | HP:0001547 | None | A morphological anomaly of the rib cage. |
| Abnormality of the larynx | HP:0001600 | None | An abnormality of the larynx. |
| Abnormality of the cardiovascular system | HP:0001626 | None | Any abnormality of the cardiovascular system. |
| Abnormal foot morphology | HP:0001760 | HP:0010611 | An abnormality of the skeleton of foot. |
| Toe syndactyly | HP:0001770 | HP:0005677 | Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\". |
| Short foot | HP:0001773 | HP:0008135 | A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). |
| Abnormality of toe | HP:0001780 | None | An anomaly of a toe. |
| Hydrops fetalis | HP:0001789 | None | The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. |
| Foot polydactyly | HP:0001829 | HP:0009135 | A kind of polydactyly characterized by the presence of a supernumerary toe or toes. |
| Postaxial foot polydactyly | HP:0001830 | HP:0010346 | Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. |
| Talipes | HP:0001883 | None | A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. |
| Abnormality of metabolism/homeostasis | HP:0001939 | HP:0004367 | None |
| Postaxial polydactyly | HP:0100259 | HP:0005808 | A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. |
| Preaxial polydactyly | HP:0100258 | None | A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. |
| Facial cleft | HP:0002006 | None | A congenital malformation with a cleft (gap or opening) in the face. |
| Frontal bossing | HP:0002007 | HP:0001359 | Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. |
| Morphological central nervous system abnormality | HP:0002011 | HP:0007319 | A structural abnormality of the central nervous system. |
| Abnormality of the abdominal organs | HP:0002012 | None | An abnormality of the viscera of the abdomen. |
| Anal atresia | HP:0002023 | HP:0001550 | Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. |
| Abnormal esophagus morphology | HP:0002031 | None | A structural abnormality of the esophagus. |
| Esophageal atresia | HP:0002032 | None | A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. |
| Abnormal cerebral morphology | HP:0002060 | None | Any structural abnormality of the telencephalon, which is also known as the cerebrum. |
| Abnormality of the respiratory system | HP:0002086 | None | An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. |
| Abnormality of the upper respiratory tract | HP:0002087 | None | An abnormality of the upper respiratory tract. |
| Thin corpus callosum | HP:0033725 | None | An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). |
| Cerebellar hypoplasia | HP:0001321 | HP:0007053 | Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. |
| Talipes equinovarus | HP:0001762 | None | Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. |
| Abnormal cerebral ventricle morphology | HP:0002118 | None | Any structural abnormality of the cerebral ventricles. |
| Intestinal malrotation | HP:0002566 | HP:0002026 | An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. |
| Abnormality of the skull base | HP:0002693 | None | An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. |
| Abnormal acetabulum morphology | HP:0003170 | None | An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. |
| Abnormal enchondral ossification | HP:0003336 | HP:0003331 | An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. |
| Aplasia/hypoplasia involving bones of the upper limbs | HP:0006496 | None | Absence (due to failure to form) or underdevelopment of the bones of the upper limbs. |
| Increased head circumference | HP:0040194 | None | An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. |
| Abnormal bone ossification | HP:0011849 | None | Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| Abnormality of the ocular adnexa | HP:0032039 | None | An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. |
| Abnormal eyelid morphology | HP:0000492 | HP:0000285 | An abnormality of the eyelids. |
| Renal hypoplasia | HP:0000089 | HP:0008641 | Hypoplasia of the kidney. |
| Nephronophthisis | HP:0000090 | HP:0004748 | Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. |
| Enlarged kidney | HP:0000105 | None | An abnormal increase in the size of the kidney. |
| Renal cyst | HP:0000107 | HP:0000109 | A fluid filled sac in the kidney. |
| Renal dysplasia | HP:0000110 | HP:0004721 | The presence of developmental dysplasia of the kidney. |
| Nephropathy | HP:0000112 | None | A nonspecific term referring to disease or damage of the kidneys. |
| Polycystic kidney dysplasia | HP:0000113 | HP:0008699 | The presence of multiple cysts in both kidneys. |
| Cataract | HP:0000518 | HP:0010700 | A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. |
| Abnormality of the nervous system | HP:0000707 | HP:0006987 | An abnormality of the nervous system. |
| Abnormal sternum morphology | HP:0000766 | HP:0006708 | An anomaly of the sternum, also known as the breastbone. |
| Abnormality of the ribs | HP:0000772 | HP:0006618 | An anomaly of the rib. |
| Short ribs | HP:0000773 | HP:0009750 | Reduced rib length. |
| Narrow chest | HP:0000774 | HP:0006588 | Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. |
| Abnormality of the urethra | HP:0000795 | None | An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. |
| Abnormal external genitalia | HP:0000811 | None | None |
| Abnormal internal genitalia | HP:0000812 | None | An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). |
| Growth abnormality | HP:0001507 | HP:0008904 | None |
| Renal insufficiency | HP:0000083 | HP:0004723 | A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. |
| Abnormality of the lens | HP:0000517 | None | An abnormality of the lens. |
| Abnormal thorax morphology | HP:0000765 | HP:0100655 | Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). |
| Abnormal lung morphology | HP:0002088 | None | Any structural anomaly of the lung. |
| Abnormality of body height | HP:0000002 | None | Deviation from the norm of height with respect to that which is expected according to age and gender norms. |
| Autosomal recessive inheritance | HP:0000007 | HP:0001526 | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| Hypoplastic male external genitalia | HP:0000050 | HP:0008721 | Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). |
| Ambiguous genitalia | HP:0000062 | HP:0008693 | A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. |
| Oral cleft | HP:0000202 | None | The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. |
| Abnormal posterior cranial fossa morphology | HP:0000932 | HP:0007306 | An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. |
| Syndactyly | HP:0001159 | HP:0001236 | Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\". |
| Dandy-Walker malformation | HP:0001305 | HP:0006809 | A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. |
| Abnormality of the palm | HP:0100871 | None | An abnormality of the palm, that is, of the front of the hand. |
| Abnormality of calvarial morphology | HP:0002648 | None | The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. |
| Positional foot deformity | HP:0005656 | None | A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. |
| Feeding difficulties in infancy | HP:0008872 | HP:0002568 | Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. |