Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Other specified pituitary dwarfism |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other specified ostium secundum atrial septal defect |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other anomalies of salivary glands or ducts |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other specified stomach anomaly NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomalies of upper alimentary tract NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital stenosis of small intestine NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Intestinal fixation anomaly NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Duplication of intestine NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other intestine anomalies NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other congenital anomaly of liver |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other congenital anomaly of hepatic or bile ducts |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital malposition of digestive system NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Indeterminate sex NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Pseudohermaphrodite NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Other gastrointestinal tract congenital anomaly |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Gastrointestinal tract congenital anomalies NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Genitourinary anomalies NOS |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital macroglossia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital adhesions |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of endocrine gonad (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Ectopic gastric mucosa - multiple sites (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Pancreas divisum - complete (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Pancreas divisum - incomplete (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital obstructive megaureter (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
brevicollis congénital |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Posterior embryotoxon (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Choledochocele (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital choledochal cyst (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Talipes (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Cystic hygroma (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
dystrophie congénitale des aponévroses |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital fibrosis of inferior rectus muscle (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital/hereditary hypermelanotic disorder |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Developmental and/or congenital abnormality of nail |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Skin damage resulting from congenital/hereditary neuropathy |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
poïkilodermie avec syndrome génétique ou congénital |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Genetic disorder of nail (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Inherited deformity of nail (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Hereditary lentiginosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital/hereditary lentiginosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital malformation of lymphatic vessel of skin (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Cutaneous lymphangiectasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Lymphangiectasia with chylous reflux |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
angiokératome congénital ou héréditaire |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Superficial onychomycosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Onycholysis due to fungal infection of nail (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Idiopathic photo-onycholysis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Polyonychia (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital onychodysplasia of index fingers (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital malalignment of multiple toenails (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital pterygium of nail (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital onychoatrophy (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Traumatic onycholysis (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Leukonychia secondary to systemic disease (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Drug-induced onycholysis (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Drug-induced leukonychia (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Acquired striate leukonychia (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Acquired koilonychia (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Acquired pterygium of nail (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
lipoatrophie congénitale généralisée |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Generalized lentiginosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Nevoid lentiginosis (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Zosteriform lentiginosis (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Lymphangiomatosis (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Segmental lymphangiomatosis (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Hereditary sclerosing poikiloderma of Weary (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Hereditary racquet nails (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Midbrain corectopia (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Irido-corneo-trabecular dysgenesis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Suspected damage to fetus from disease in the mother |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Variant coronary origin from aortic sinus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Variant coronary origin from left sinus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Variant coronary origin from right sinus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomalous origin of coronary artery from non-facing sinus (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomalous origin of left anterior descending from right coronary artery |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomalous origin of coronary artery from pulmonary arterial tree |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomalous origin of coronary artery from right pulmonary artery |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Anomalous origin of coronary artery from left pulmonary artery |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital labial adhesions |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
[X]Townes-Brocks syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Infertility due to testicular hypoplasia (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Fetus papyraceus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Varix of umbilical vein (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Bohn's nodule (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Epstein's pearl of palate (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Gingival cyst of neonate (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital absence of heart structure (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Mesonephric duct cyst of broad ligament |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital failure of fusion between maxillary and mandibular processes (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Thoracic hydromeningocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Meningomyelocele (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Suspected damage to fetus from maternal alcohol addiction |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
soupçon de lésion fœtale par irradiation |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Hepatomphalocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Suspected damage to fetus from maternal drug use |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Suspected damage to fetus from viral disease in mother |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Suspected damage to fetus from intrauterine contraceptive device |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|