| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Renal osteodystrophy with low bone turnover (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Pelizaeus-Merzbacher disease null syndrome |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Congenital dystrophy of cornea (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Pelizaeus-Merzbacher disease in female carrier |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Retinitis pigmentosa-deafness syndrome type 3 (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
4 |
| A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability have been reported in some patients. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| Lipodystrophy due to juvenile dermatomyositis |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), a recessive autosomal mode of inheritance, neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes foamy aspect. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Autosomal recessive Emery-Dreifuss muscular dystrophy |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| X-linked Emery-Dreifuss muscular dystrophy |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Generalized congenital lipodystrophy with myopathy (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Ovarioleukodystrophy |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| A rare congenital muscular dystrophy characterized by neonatal hypotonia, life-threatening respiratory failure, and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalized joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability, rounded fibers with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibers, and cap lesions. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Myotonic dystrophy (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| LIMS2-related limb girdle muscular dystrophy |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Retinal dystrophy due to GM2 gangliosidosis |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare, genetic retinal disease characterized by the characteristic dried-out soil fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time. |
Associated morphology |
False |
Dystrophy |
Inferred relationship |
Some |
1 |
| Adynamic bone disease |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and femoro gluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare bone disease characterized by secondary hyperparathyroidism in patients with chronic renal failure, caused by improper treatment in the early stages of the disease with retention of phosphorus, vitamin D deficiency, and disturbed calcium-phosphorus metabolism, which result in increased parathyroid hormone levels. Patients present with short stature, severe changes of the skull and jaws as well as other skeletal deformities, dental anomalies, brown tumors in the mouth, hearing loss, and neuropsychiatric disorders. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Incomplete achromatopsia |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Dystrophy of multiple endocrine glands (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Renal osteodystrophy due to hyperparathyroidism (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium). |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare genetic skin disease characterised by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
5 |
| Dystrophy of posterior surface of cornea of bilateral eyes (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Dystrophy of posterior surface of cornea of bilateral eyes (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Hereditary dystrophy of cornea of bilateral eyes (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Hereditary dystrophy of cornea of bilateral eyes (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Dystrophy of anterior surface of cornea of bilateral eyes (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Dystrophy of anterior surface of cornea of bilateral eyes (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Macular dystrophy of substantia propria of cornea of bilateral eyes (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Macular dystrophy of substantia propria of cornea of bilateral eyes (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Stromal dystrophy of substantia propria of cornea of bilateral eyes (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Stromal dystrophy of substantia propria of cornea of bilateral eyes (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Lattice dystrophy of substantia propria of cornea of bilateral eyes (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Lattice dystrophy of substantia propria of cornea of bilateral eyes (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| A rare genetic, skeletal muscle disease with characteristics of early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibres. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Retinitis pigmentosa due to systemic disease |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Peripapillary choroidal dystrophy (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare genetic leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy, and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature, and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Pitting of nail due to alopecia areata (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Nail dystrophy due to epidermolysis bullosa |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| Alexander disease juvenile form |
Associated morphology |
False |
Dystrophy |
Inferred relationship |
Some |
2 |
| Alexander disease type I (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Alexander disease adult form |
Associated morphology |
False |
Dystrophy |
Inferred relationship |
Some |
2 |
| Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Usher syndrome type 1F (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose. |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Aicardi Goutieres syndrome |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
4 |
| Aicardi Goutieres syndrome type 1 |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
5 |
| Aicardi Goutieres syndrome type 2 |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
5 |
| Aicardi Goutieres syndrome type 3 |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
5 |
| Aicardi Goutieres syndrome type 4 (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
5 |
| Aicardi Goutieres syndrome type 5 (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
5 |
| Adrenoleukodystrophy |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Neonatal adrenoleukodystrophy |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| Adolescent X-linked adrenoleukodystrophy (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| Childhood cerebral X-linked adrenoleukodystrophy |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| Sphingolipid activator protein 1 deficiency |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Cholestanol storage disease |
Associated morphology |
False |
Dystrophy |
Inferred relationship |
Some |
5 |
| Spongy degeneration of central nervous system |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Metachromatic leukodystrophy without arylsulfatase deficiency |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Metachromatic leukodystrophy, congenital type |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| Metachromatic leukodystrophy, juvenile type |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Metachromatic leukodystrophy, late infantile type |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Arylsulfatase A deficiency |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Metachromatic leucodystrophy (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
| Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
3 |
| Dystonia due to metachromatic leucodystrophy (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
5 |
| Adrenomyeloneuropathy (disorder) |
Associated morphology |
True |
Dystrophy |
Inferred relationship |
Some |
2 |
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