| Lipedema |
|
Edema |
OMIM:614103 |
| Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Angioedema, Hereditary, 5 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619361 |
| Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia, Cerebellar dysplasia |
OMIM:615041 |
| Cockayne Syndrome |
|
Skeletal muscle atrophy, Dry hair, Progressive gait ataxia, Retinal arteriolar constriction, Gast... |
ORPHA:191 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Purpura, Ataxia, Epistaxis, Malabsorption, Abnormal re... |
ORPHA:33226 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Vertigo, Chor... |
ORPHA:25 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... |
OMIM:258450 |
| Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Dry hair, Flexion contracture, Premature graying of hair, Adult onset se... |
ORPHA:90324 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Incontinentia Pigmenti |
|
Hyperhidrosis, Abnormality of skin pigmentation, Abnormal toenail morphology, Abnormality of the ... |
ORPHA:464 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Hypothyroidism, Alopec... |
ORPHA:412057 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Optic atrophy,... |
ORPHA:33445 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Iris hypopigmentation... |
ORPHA:97229 |
| Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... |
OMIM:619565 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
| Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Decreased muscle mass, Thick hair, Subretinal pigment epithelium hemorrhage, Coarse hair, High pa... |
ORPHA:357074 |
| Cherubism |
|
Macular scar, Marcus Gunn pupil, Optic neuropathy |
OMIM:118400 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,... |
ORPHA:99027 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Sensorineural hearing impairment, In... |
OMIM:619473 |
| Gne Myopathy |
|
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... |
ORPHA:602 |
| Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
| Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction... |
OMIM:615368 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Frequent falls, Inability to walk, Spasticity, Opisthoto... |
ORPHA:216866 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia, Sensorineural hearing impairment |
ORPHA:94064 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Tremor, Prelingual sensorineural hearing im... |
ORPHA:52368 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Hyperthyroidism, Thick hair, Tremor, Increased va... |
ORPHA:502423 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail... |
OMIM:264800 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
| Incontinentia Pigmenti |
|
Ridged nail, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic, patchy alopeci... |
OMIM:308300 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Optic atrophy, Impaired vibration sensation in the lower limbs, Gait... |
ORPHA:95433 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bilateral vocal cord paresis, Tachycardia, Flexion contracture, Retinal hemorrhage, Hyperhidrosis... |
OMIM:614653 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cram... |
OMIM:128100 |
| Mohr-Tranebjaerg Syndrome |
|
Dystonia, Tremor, Postlingual sensorineural hearing impairment, Spasticity, Intrinsic hand muscle... |
OMIM:304700 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Hand muscle we... |
ORPHA:101085 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Ataxia, Thick hair, Tremor, Inability to walk, Dysmetria, Primary amenorrhea, Li... |
OMIM:617675 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... |
ORPHA:401768 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Ecchymosis, Internal hemo... |
ORPHA:99827 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Increased variability in muscle fiber... |
OMIM:125250 |
| Trichinellosis |
|
Facial palsy, Nausea, Vertigo, Babinski sign, Central retinal artery occlusion, Retinal hemorrhag... |
ORPHA:863 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, H... |
ORPHA:758 |
| Gordon Holmes Syndrome |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Chorea, Secondary amenorrhea, Primary ... |
OMIM:212840 |
| Christianson Syndrome |
|
Cerebellar atrophy, Decreased muscle mass, Cachexia, Truncal ataxia, Dysphagia, Gait ataxia, Gast... |
ORPHA:85278 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Rag... |
OMIM:613662 |
| Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, High palate, Loss of ambulation, Foot dorsiflexor... |
ORPHA:98897 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Optic atrophy, Difficulty walking, C... |
OMIM:619425 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potenti... |
OMIM:619260 |
| Perrault Syndrome 1 |
|
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Increased circulating gonadotropin ... |
OMIM:233400 |
| Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Fiber ... |
OMIM:617302 |
| Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Progres... |
ORPHA:248111 |
| Rift Valley Fever |
|
Abnormal bleeding, Retinitis, Paralysis, Hematemesis, Paraparesis, Vertigo, Retinal hemorrhage, M... |
ORPHA:319251 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... |
OMIM:616515 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... |
OMIM:177850 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... |
ORPHA:300605 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysm... |
OMIM:618093 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Gastrointestinal dysmotility, R... |
ORPHA:298 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Adult Krabbe Disease |
|
Hoffmann sign, Upper limb muscle weakness, Lower limb muscle weakness, Abnormal medulla oblongata... |
ORPHA:206448 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility, Centrally nucleated skeletal muscle fibers, ... |
OMIM:619518 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Huntington Disease |
|
Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Decreased body mass index, Clumsiness... |
ORPHA:399 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Hand tremor, G... |
OMIM:157640 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Decrea... |
ORPHA:99852 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Huntington Disease-Like 2 |
|
Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Gait disturbance, Dyst... |
ORPHA:98934 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Impaired distal proprioception, Ragged-re... |
OMIM:607459 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
| Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal m... |
OMIM:271150 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, S... |
ORPHA:266 |
| Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Chorea, Athetosis, Myoclonus, Dysphagia, Increased variability in muscle fiber... |
OMIM:617235 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Upper limb muscl... |
ORPHA:206443 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
| Childhood-Onset Nemaline Myopathy |
|
Flexion contracture, Neuromuscular dysphagia, Increased muscle lipid content, High palate, Type 1... |
ORPHA:171439 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Hypoplasia of penis, Optic nerve hypoplasia, Anterior pituitary hypoplasia... |
ORPHA:3157 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Supraventricular arrhythmia, Retinal arteriolar tortuosity, Raynaud phenomenon, Retinal hemorrhag... |
OMIM:611773 |
| Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Alopecia, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh... |
ORPHA:79098 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... |
OMIM:601382 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Tay-Sachs Disease |
|
Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Cherry ... |
ORPHA:845 |
| Usher Syndrome Type 1 |
|
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... |
ORPHA:231169 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Hypermelanotic macule, Abnormal hair morphology, Weight loss, Protru... |
ORPHA:317 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Gm1 Gangliosidosis |
|
Tremor, Gastroesophageal reflux, Decerebrate rigidity, Cherry red spot of the macula, Generalized... |
ORPHA:354 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Spastic tetraplegia, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Retinal hemorrhage, Weight loss, Chr... |
OMIM:608710 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm |
OMIM:608653 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Heterochromia iridis, ... |
OMIM:609136 |
| Retinal Arteries, Tortuosity Of |
|
Retinal arteriolar tortuosity, Retinal hemorrhage |
OMIM:180000 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypertensive retinopathy, Pulsatile tinnitus, Sinus tachycardia, ... |
ORPHA:94080 |
| Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of finger, Diaphragmatic pa... |
OMIM:614399 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Inability to walk, Flexion contrac... |
OMIM:613155 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Noonan Syndrome 7 |
|
Curly hair, Large for gestational age, Low posterior hairline, Hyperhidrosis, Large earlobe, Impa... |
OMIM:613706 |
| Classic Galactosemia |
|
Vomiting, Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Cryptorchidism... |
ORPHA:79239 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
| Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Hypopigmentation of hair, Diabetes mellitus, Ataxia, Telangiectasia of t... |
ORPHA:100 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Myocardial infarction, Tremor, Overweight,... |
ORPHA:457240 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Patent ductus arteriosus, Cerebral atrophy, Gastroesophageal reflux, Pulmonary ar... |
OMIM:614857 |
| Coach Syndrome 1 |
|
Optic disc pallor, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Portal hypertension, Aplas... |
OMIM:216360 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Lower limb spastici... |
OMIM:616881 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Limb-girdle muscle weakness, Sens... |
ORPHA:1215 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal vestibular function, Abnormal sperm tail morphology, Abnormal spermato... |
OMIM:611102 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Hypogonadism, Gait disturbance, Congenital muscular dystrophy, Abnorma... |
ORPHA:1875 |
| Cockayne Syndrome A |
|
Dry hair, Tremor, Abnormality of skin pigmentation, Sparse hair, Micropenis, Hepatomegaly, Retina... |
OMIM:216400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
| Vici Syndrome |
|
Cerebellar vermis hypoplasia, Albinism, Abnormal thymus morphology, High palate, Hypopigmentation... |
OMIM:242840 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia ... |
OMIM:617523 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, High palate, Increased variability in... |
OMIM:617915 |
| Renpenning Syndrome |
|
Decreased testicular size, Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Hypo... |
ORPHA:3242 |
| Retinopathy Of Prematurity |
|
Tractional retinal detachment, Small for gestational age, Retinal arteriolar tortuosity, Abnormal... |
ORPHA:90050 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Retinal atrophy, Retinal thinning, Retinal dystrophy, Cerebellar vermis... |
OMIM:615960 |
| Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at... |
ORPHA:98768 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Ske... |
OMIM:613954 |
| Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Fusion of the cerebellar hemispheres, Septo-optic dysplasia, A... |
ORPHA:59315 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, High, narrow palate... |
OMIM:209900 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar dysplasia, Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy, Elongated sup... |
ORPHA:370022 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Esophageal stenosis, Vaginal neoplasm, Hypoperistalsis, Abnormality of the fem... |
ORPHA:1018 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas... |
OMIM:601455 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Hepatomegaly, Abnormal bleeding, Splenomegaly, Patent ductus arteriosus, Chro... |
OMIM:614576 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Failure to thrive, Lower limb spasticity, Ataxia, Hypermelan... |
ORPHA:90321 |
| Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Diarrhea, Weight loss, Decreased intestinal transit time, High palate, Low-s... |
OMIM:620045 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration |
ORPHA:3233 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Ataxia, Portal hypertension, Retinal telangiectasia, Esophageal vari... |
OMIM:617341 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Palpitations, Retinal hemorrhage |
ORPHA:86839 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Alopecia, Ataxia, Cachexia, Impaired pain sensation, Abnormality of the ... |
ORPHA:2047 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
| Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Hypothyroidism, Abnormal cerebellar peduncle morpho... |
ORPHA:909 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Noncompaction cardiomyopathy, Ataxia, Left ventricular hypertrophy, Spas... |
ORPHA:3208 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Dysphagia, Gait ataxia, Titubation, Bradykin... |
ORPHA:225147 |
| Optic Atrophy 5 |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
| Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Neuromuscular dysphagia, Increased muscle lipid content, Dilated cardiomyopa... |
ORPHA:171442 |
| Infantile Krabbe Disease |
|
Diffuse cerebral atrophy, Opisthotonus, Vomiting, Gastroesophageal reflux, Decerebrate rigidity, ... |
ORPHA:206436 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism,... |
OMIM:620327 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Ataxia, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Limb joint contracture, Cachexia, ... |
OMIM:618186 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Generalized dystonia, Ataxia, EEG with abnormally slow frequencies, Abn... |
ORPHA:70472 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Waddling gait, Impaired vibratory sensation, Somatic sensory dysfunction, Pyloric stenosis, Babin... |
OMIM:616924 |
| Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Vomiting, Dysphagia, P... |
ORPHA:363717 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Intestinal obstruction, Hypopigmentation of hair, Aganglioni... |
ORPHA:897 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... |
OMIM:254110 |
| Moynahan Syndrome |
|
Alopecia, Cachexia, Sensorineural hearing impairment, Hypogonadism, Sparse hair |
ORPHA:2574 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... |
ORPHA:320401 |
| Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Protruding ear, Hypoplasi... |
ORPHA:247768 |
| Generalized Arterial Calcification Of Infancy |
|
Choroidal neovascularization, Adrenal calcification, Cardiomegaly, Abnormal retinal artery morpho... |
ORPHA:51608 |
| Mepan Syndrome |
|
Cerebellar atrophy, Axial dystonia, Dystonia, Hemidystonia, Optic atrophy, Limb dystonia, Abnorma... |
ORPHA:508093 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Limb dystonia, Cerebral hemorrhage, Retinal arteriolar tortuosity, Babinski s... |
OMIM:175780 |
| Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Optic disc hypoplasia, Esophageal atresia, Patent ductus arterios... |
OMIM:300514 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Abnormal vestibular function, Gastroparesis, Intestinal pseudo-obst... |
ORPHA:70595 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Posteriorly rota... |
OMIM:618598 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, ... |
ORPHA:79083 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Idiopathic Aplastic Anemia |
|
Epistaxis, Ecchymosis, Retinal hemorrhage, Gingival bleeding |
ORPHA:88 |
| Eales Disease |
|
Optic disc pallor, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, ... |
ORPHA:98771 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Failure to thrive in infancy, Babinski sign, Spastic diplegia, Myoclonus, Increased intra... |
OMIM:619065 |
| Attrv30M Amyloidosis |
|
Vitreous floaters, Cardiomegaly, Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, I... |
ORPHA:85447 |
| Diencephalic Syndrome |
|
Cachexia, Long penis, Optic atrophy, Hyperhidrosis, Decreased body weight, Abnormality of the hyp... |
ORPHA:1672 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Dysmenorrhea, Increased sarcoplasmic glycogen, Splenomegal... |
ORPHA:264580 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Heterochromia iridis, Abnormality of the middle... |
ORPHA:90646 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Hip contracture, Flexion contracture of finger, Small for gestational age, Sh... |
OMIM:193700 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Large... |
OMIM:600501 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th... |
ORPHA:42665 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Sensorineural hearing ... |
ORPHA:521426 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Weight loss |
ORPHA:52416 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
| Cockayne Syndrome B |
|
Dry hair, Tremor, Abnormality of skin pigmentation, Sparse hair, Micropenis, Hepatomegaly, Ataxia... |
OMIM:133540 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Bowel incontinence, Cachexia, Optic atrophy, Choreoathetosi... |
ORPHA:702 |
| Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Weight loss, Adrenocorticotropic hormone excess, Increased serum serot... |
ORPHA:100083 |
| Leptospirosis |
|
Papilledema, Hepatomegaly, Pericarditis, First degree atrioventricular block, Diarrhea, Rhabdomyo... |
ORPHA:509 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Abnormal bleeding, Torticollis, Somatic sensory dysfunction, Metrorrhag... |
ORPHA:370348 |
| Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Skeletal muscle atro... |
OMIM:268800 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... |
OMIM:605637 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Reticular Dysgenesis |
|
Malabsorption, Diarrhea, Weight loss, Chronic otitis media, Failure to thrive, Aplasia/Hypoplasia... |
ORPHA:33355 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Waddling gait, Unsteady gait, Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, I... |
OMIM:612937 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Exaggerated startle resp... |
OMIM:615574 |
| Pierson Syndrome |
|
Retinal detachment, Skeletal muscle atrophy, Remnants of the hyaloid vascular system, Retinal hem... |
OMIM:609049 |
| Tsh-Secreting Pituitary Adenoma |
|
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, ... |
ORPHA:91347 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Chorioretinal degeneration, Gait ataxia, U... |
ORPHA:1435 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Abnormality of skeletal muscle fiber... |
ORPHA:2348 |
| Trisomy 18 |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Camptodactyly of finger, ... |
ORPHA:3380 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Proximal upper limb amyotr... |
OMIM:601954 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Intestinal malrotation, Female infertility, Recurrent otitis media, Conductive ... |
ORPHA:244 |
| Usher Syndrome Type 3 |
|
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, I... |
ORPHA:231183 |
| Dyskeratosis Congenita |
|
Anorectal anomaly, White hair, Hyperhidrosis, Premature graying of hair, Sparse hair, Hepatomegal... |
ORPHA:1775 |
| Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... |
ORPHA:397946 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Broad-based gait, Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon... |
ORPHA:353 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Loss of ambulation, Increased variability in muscle fiber diameter, Flexion contracture, Muscle f... |
OMIM:300717 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Pulsatil... |
ORPHA:276621 |
| Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Male infertility, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy |
ORPHA:276183 |
| Apert Syndrome |
|
Esophageal atresia, Sensorineural hearing impairment, Optic atrophy, Abnormal semicircular canal ... |
ORPHA:87 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Tremor, Episodic hyperhidrosis, Cranial nerve compression, Vocal cord p... |
ORPHA:29072 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Alopecia, Hepatomegaly, External genital hypoplasia, Inappro... |
ORPHA:79330 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia, Inability to walk, Chore... |
OMIM:617864 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebel... |
OMIM:615181 |
| Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy... |
ORPHA:388 |
| Ciliary Dyskinesia, Primary, 37 |
|
Goiter, Hypothyroidism, Female infertility, Hearing impairment |
OMIM:617577 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... |
OMIM:110100 |
| Myasthenic Syndrome, Congenital, 14 |
|
Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... |
OMIM:616228 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Ataxia, Clonus, Tremor, Splenomegaly, Chorea, Optic atrophy, Clumsiness, Choreoathe... |
OMIM:615673 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Idiopathic Achalasia |
|
Weight loss, Gastroesophageal reflux, Dysphagia |
ORPHA:930 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate, Weight loss |
ORPHA:141152 |
| Retinitis Pigmentosa 89 |
|
Retinal thinning, Esophageal varix, Hepatosplenomegaly, Hyperautofluorescent retinal lesion, Rod-... |
OMIM:618955 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Cardiomegaly, Hypothyroidism, Generalized bronze hyperpigmentation, Hepato... |
ORPHA:465508 |
| Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Foot dorsiflexor weakness, Remnants of the hyaloid vascular system, ... |
ORPHA:637 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Axial dystonia, Failure to thrive in infancy, Spastic ... |
OMIM:619026 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ataxia, Abnormal ey... |
ORPHA:2885 |
| Giant Cell Arteritis |
|
Alopecia, Pericarditis, Ataxia, Diabetes insipidus, Sudden cardiac death, Epistaxis, Vertigo, Vas... |
ORPHA:397 |
| Isochromosomy Yq |
|
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased... |
ORPHA:86812 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Diarrhea, Vestibu... |
ORPHA:3240 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Protruding ear, Hyper... |
OMIM:254090 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, H... |
OMIM:616313 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Esophageal stricture, Flexion contrac... |
ORPHA:89842 |
| Mcdonough Syndrome |
|
Low-set, posteriorly rotated ears, Cachexia, Cryptorchidism, Synophrys, Aplasia/Hypoplasia of the... |
ORPHA:2471 |
| Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morph... |
ORPHA:90291 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Congestive he... |
ORPHA:52430 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Retinoblastoma |
|
Abnormality of retinal pigmentation, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, ... |
ORPHA:790 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Distal lower limb amyotrophy, Optic disc pallor, Exaggerated startle response, Multiple joint con... |
ORPHA:320406 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Hearing abnormality, Vertigo, Abnormality of the twelfth cran... |
ORPHA:252164 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi... |
ORPHA:486815 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... |
ORPHA:95699 |
| Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Babinski sign, Optic atrophy,... |
OMIM:609541 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Myopathy, Proximal mus... |
OMIM:615424 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m... |
OMIM:617760 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Esophageal stenosis, Ataxia, Somatic sensory dysfunction, High anterior ... |
OMIM:615510 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Patent ductus arteriosus, Elevated circulating thyroid-s... |
OMIM:620185 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Gastroparesis, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intes... |
OMIM:603041 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Flexion con... |
ORPHA:367 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Hypospadias, Highly arched eyebrow, Congenital sensorineural hearing impairmen... |
ORPHA:500159 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Cronkhite-Canada Syndrome |
|
Hypoplastic toenails, Hamartomatous polyposis, Abnormality of skin pigmentation, Stomach cancer, ... |
ORPHA:2930 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Esophageal atresia, Patent ductus arteriosus, T... |
ORPHA:77298 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradyk... |
OMIM:137440 |
| Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor |
OMIM:606438 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Hypoplasia of penis, Camptodactyly of finger, Cachexia, Abnormal hair pattern, ... |
ORPHA:85293 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Small scrotum, Internally nucleated skeletal muscle fibers, Facial palsy... |
ORPHA:98905 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Hepatomegaly, Cardiac arrest, Hypoplastic toenails, Cerebral atrophy, Myopath... |
OMIM:604377 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Dysesthesia, Ear pain, Cranial nerve compression, Odynophagia, Vocal c... |
ORPHA:221098 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Posteriorly rotated ears, Failure to thrive in infancy, Cachexia, Facial hypoton... |
OMIM:616801 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Retinal detachment, Agenesis of cerebellar vermis, Hypoplasia of the pons, ... |
OMIM:613153 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Waddling gait, Myopathy, Proximal muscle weakness in lower limbs, Gait disturbance, Increased var... |
ORPHA:1878 |
| Sandifer Syndrome |
|
Torticollis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Abnormal posturing... |
ORPHA:71272 |
| Distal Deletion 10Q |
|
Clonus, Hypoplastic toenails, Protruding ear, High palate, Scapular winging, Ataxia, Patent ductu... |
ORPHA:96148 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Broad-based gait, Spontaneous, recurrent epistaxis, Cachexia, Paralysis, Splenomegal... |
ORPHA:2072 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Prolactinoma |
|
Vomiting, Male hypogonadism, Hypogonadotropic hypogonadism, Vertigo, Decreased fertility in males... |
ORPHA:2965 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Vomiting, Gastroesophageal reflux, Nausea, Male infertility, Hepatomegaly... |
ORPHA:85450 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Rigidity, Babinski sign, Optic atrophy, A... |
OMIM:617527 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
| Norrie Disease |
|
Clonus, Protruding ear, Hypertonia, Uterine rupture, Aplasia/Hypoplasia of the cerebellum, Abnorm... |
ORPHA:649 |
| Squalene Synthase Deficiency |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Failure to thrive in infancy, Hypospadias, Bila... |
OMIM:618156 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cleft palate, Cerebellar vermis hypoplasia, Retinal neovascularization, Hearing impairment |
OMIM:619074 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, EEG abnormality, Reduced left ventricular ejection fracti... |
OMIM:614096 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
| Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, EEG abnormality, Co... |
OMIM:312750 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Tremor, Fatty replacement of skeletal muscle, Vocal cord par... |
ORPHA:397744 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypospadias, Highly arched eyebrow, Senso... |
OMIM:617751 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Myopathy, Gait ... |
ORPHA:157973 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Orthostatic hypotension, Premature ovarian insufficiency, Decreased circulati... |
ORPHA:199299 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, Dysphagia, Weakness... |
OMIM:620265 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Gait ataxia, Weight loss, Vomiting, Failure to thrive |
OMIM:612075 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
| Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Petechiae, Cryptorchidism, Esoph... |
OMIM:617053 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Jejunal atresia, High, narrow palate, Narrow palate, Spasticity, Darwin tubercle of helix, Myoclo... |
OMIM:612949 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Involuntary movements, Tongue fasciculations, Increased variability in m... |
ORPHA:238329 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Fac... |
OMIM:617114 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ... |
ORPHA:440437 |
| Lynch Syndrome |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Intestinal poly... |
ORPHA:144 |
| African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Vomiting, Nausea, Papilledema, Alopecia, Abnorm... |
ORPHA:3385 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Angulated muscle fibers, Inability to walk, High pala... |
OMIM:617066 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack,... |
ORPHA:183 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Alopecia, Portal hypertension, Esophageal varix, Aplastic/hypoplasti... |
ORPHA:974 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
| Oculopharyngodistal Myopathy 4 |
|
Postural tremor, Autophagic vacuoles, Tremor, Fatty replacement of skeletal muscle, Increased var... |
OMIM:619790 |
| Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Ataxia, Facial palsy, Autophagic vacuoles, Tremor, Sensorineural ... |
OMIM:164310 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Freq... |
OMIM:300718 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Hyperhidrosis, Choreoathe... |
ORPHA:17 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
| Isaacs Syndrome |
|
Distal sensory impairment, Weight loss, Calf muscle hypertrophy, EEG abnormality, Hyperhidrosis, ... |
ORPHA:84142 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Cerebellar vermis hypoplasia, Thick eyebrow, Facial-lingual fascicu... |
OMIM:617281 |
| Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
| Ataxia With Vitamin E Deficiency |
|
Tremor, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Dystonia |
ORPHA:96 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Cerebellar vermis hypoplasia, Ankle flexion contracture, Pyloric stenosis, Elbow flexion contract... |
OMIM:619461 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... |
OMIM:255310 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Aspergillosis |
|
Intracranial hemorrhage, Vitritis, Eosinophilia, Abnormal esophagus morphology |
ORPHA:1163 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Aganglionic megacolon, Ataxi... |
ORPHA:163746 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... |
OMIM:611705 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Dystonia, Portal hypertension, Rigidity, Splenomegaly, Esophageal varix, Bradykines... |
ORPHA:309854 |
| Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Adrenal calcification, Splenomegaly, Diarrhea, Esophageal varix |
ORPHA:75234 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Inability to walk, Gastroesophageal reflux, Brain atrophy, Hearing ... |
OMIM:620114 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
| Immunodeficiency 23 |
|
Somatic sensory dysfunction, Ataxia, Eosinophilia, Sensorineural hearing impairment, Esophageal s... |
OMIM:615816 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Sensorineural hearing impairment, Hypopigmented ... |
ORPHA:895 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
| Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of male external genitalia, Decreased muscle mass,... |
ORPHA:813 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Chronic diarrhea, Ovarian neoplasm, Weight... |
ORPHA:2221 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, ... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Myocardial infarction, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, ... |
ORPHA:99228 |
| Monosomy X |
|
Myocardial infarction, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, ... |
ORPHA:99226 |
| Turner Syndrome |
|
Myocardial infarction, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, ... |
ORPHA:881 |
| Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... |
ORPHA:85138 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Micropenis, Hypothyroidism, Hepatomegaly, Portal hypertension, Chorioretinal atrophy,... |
OMIM:619487 |
| Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Decreased nerve conduction velocity, Sensorineural hea... |
ORPHA:1933 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ... |
OMIM:253601 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Purpura, Cerebral palsy, Pulmonary embolism |
OMIM:612304 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
| Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Small for gestational age, Congenital diaphragmatic hernia, Abnormality of the end... |
ORPHA:95706 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Impaired temperature sensation, Xerostomia, Chorioret... |
ORPHA:398079 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterior pituitary hy... |
OMIM:206900 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Obesity, Slurred speech, Polycystic ovaries, Chiari malformation, Recurre... |
OMIM:616831 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Generalized hyperpigmentation, Ataxia, Peric... |
ORPHA:3452 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Flexion co... |
OMIM:618484 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:616471 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Prolonged bleeding time, Splenomegaly, Vertigo, Sensorineural hearing impairment, W... |
ORPHA:3226 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Alopecia, Esophageal stricture, Flexion contracture, Constipa... |
OMIM:226600 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Ataxia, Celiac disease, Diarrhea, Thyroiditis, Weight loss, Prolonged prothrombin time,... |
OMIM:212750 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Hearing abnormality, Diarrhea, Patent ductus arteriosus, Weight loss, Hypertrophic ... |
ORPHA:1842 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
| Takayasu Arteritis |
|
Myocardial infarction, Vasculitis, Weight loss, Hyperhidrosis, Hypertension, Gastrointestinal inf... |
ORPHA:3287 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Increased endomysial connecti... |
ORPHA:75840 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ataxia, Cryptorchidism, Sensorineural hearing impairment, Ocular albini... |
ORPHA:2719 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Sparse scal... |
ORPHA:394 |
| Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... |
OMIM:611615 |
| Cap Myopathy |
|
Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,... |
ORPHA:171881 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... |
ORPHA:1876 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Bronchogenic Cyst |
|
Abnormal stomach morphology, Paresthesia, Dysphagia, Abnormality of the diaphragm, Abnormal esoph... |
ORPHA:2357 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Clonus, Flexion contracture, Optic atrophy, Elbow ... |
OMIM:617301 |
| Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Abnormal pyramidal sign, Ataxia, Retrobulbar... |
ORPHA:117 |
| Poems Syndrome |
|
Papilledema, Diabetes mellitus, Hyperpigmentation of the skin, Abnormality of the endocrine syste... |
ORPHA:2905 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cardiomyopath... |
OMIM:232500 |
| Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... |
ORPHA:352731 |
| Progeroid Short Stature With Pigmented Nevi |
|
Premature ovarian insufficiency, Small for gestational age, Hypospadias, Diabetes mellitus, Senso... |
OMIM:176690 |
| Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Esophageal varix, Adrenal insufficie... |
ORPHA:75233 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Inability to walk, Ty... |
ORPHA:596 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Malabsorption, Sensorineural hearing impairment, Chronic diarrhea, Hypopigmented skin p... |
ORPHA:47 |
| Trisomy 10P |
|
Absent gallbladder, Decreased muscle mass, Posteriorly rotated ears, Small for gestational age, A... |
ORPHA:171929 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Ataxia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Dilated cardiomyopat... |
OMIM:615688 |
| Hardikar Syndrome |
|
Vomiting, Hepatomegaly, Cleft soft palate, Portal hypertension, Vertigo, Patent ductus arteriosus... |
OMIM:301068 |
| Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Hepatomegaly, Alopecia, Hypergonadotropic hypogonadism, Decreased respon... |
OMIM:203800 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Native American Myopathy |
|
Skeletal muscle atrophy, Muscle fiber atrophy, Submucous cleft soft palate, Cryptorchidism, Inabi... |
ORPHA:168572 |
| Wilson Disease |
|
Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Increased body weight, Weight los... |
ORPHA:905 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Portal hypertension, Hypoplastic toenails, Splenomegaly, Esophageal vari... |
OMIM:616589 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Chronic diarrhea, Weight loss, Acholic stools, Hepatocellular carcinoma, Cholelithiasis, Pancreat... |
ORPHA:65682 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Vomiting, Leydig cell neoplasia, Impaired cortisol response... |
ORPHA:361 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Cranial nerve compress... |
ORPHA:652 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Retinal Capillary Malformation |
|
Subretinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters, Epiretinal membr... |
ORPHA:71213 |
| Distal Deletion 12Q |
|
High, narrow palate, Micropenis, Esophageal atresia, Patent ductus arteriosus, Obesity, Microtia,... |
ORPHA:96149 |
| Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Intestinal obstruction, H... |
ORPHA:3440 |
| Lead Poisoning |
|
Abnormal sperm morphology, Decreased female libido, Small for gestational age, Somatic sensory dy... |
ORPHA:330015 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:98754 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating... |
ORPHA:314478 |
| Microphthalmia, Syndromic 2 |
|
Anteverted ears, Flexion contracture, Laterally curved eyebrow, Contracture of the proximal inter... |
OMIM:300166 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ... |
OMIM:617228 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Splenomegaly, Esophageal varix, Hepatocellular carc... |
OMIM:619463 |
| Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Myocardial infarction, Increased circul... |
ORPHA:95409 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Skeletal muscle atrophy, Neoplasm of the adrenal cortex, Angina pectoris, C... |
ORPHA:109 |
| Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Metrorrhagia, Epistaxis, Diffuse alveolar hemorrhage, Vertigo, Weight loss, Or... |
ORPHA:520 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Reticulated skin pigmentation, Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy, Pr... |
OMIM:613989 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:98793 |
| Gm1 Gangliosidosis Type 1 |
|
Diffuse cerebral atrophy, Exaggerated startle response, Hepatosplenomegaly, Macroglossia, Cardiom... |
ORPHA:79255 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Anal atresia, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic ... |
OMIM:236670 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Impaired temperature sensation, Flexion contracture, ... |
ORPHA:398069 |
| Congenital Myopathy 15 |
|
Waddling gait, Tricuspid regurgitation, Fatty replacement of skeletal muscle, Vocal cord paralysi... |
OMIM:620161 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Sensorineural hearing impairment, Irregular menstr... |
OMIM:617565 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Optic atrophy, Abnormality of visual evoked potentials |
OMIM:256600 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:177904 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Gastrointestinal inflammation, Nail dystrophy, Vaginal stricture, Stenosis ... |
ORPHA:79409 |
| Arima Syndrome |
|
Dilated fourth ventricle, Hepatomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplas... |
OMIM:243910 |
| Unilateral Polymicrogyria |
|
Involuntary movements, Epistaxis, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination,... |
ORPHA:268943 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Dysphagia, Weight loss, Bradykinesia, Chronic c... |
ORPHA:411602 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:177901 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
| 8P23.1 Microdeletion Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, External ear malformation, Cryptorchidism, Patent d... |
ORPHA:251071 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, Ataxia, White eyebrow, Synophry... |
ORPHA:2884 |
| Joubert Syndrome 23 |
|
Coloboma, Sensorineural hearing impairment, Cerebellar dysplasia |
OMIM:616490 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... |
OMIM:274600 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
| Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Flexion contracture, EEG with central ... |
ORPHA:98889 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Pain insensitivity, Telangiectasia of the skin, ... |
ORPHA:679 |
| Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Ataxia, Hypospadias, Hyperpigmentation of the skin, Phimosis, ... |
OMIM:305000 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Adrenal calcification, Portal hypertension, Splenomegaly, Diarrhea, Esophageal vari... |
OMIM:278000 |
| Granulomatosis With Polyangiitis |
|
Otitis media, Chronic otitis media, Abnormality of the hypothalamus-pituitary axis, Diabetes insi... |
ORPHA:900 |
| Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Esophageal atresia, Unilateral vocal cord para... |
OMIM:301030 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Epistaxis, Abnormality of the menstrual cycle, Splenomegaly, Bruising suscepti... |
ORPHA:721 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... |
OMIM:275000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Skeletal muscle atrophy, Flexion contracture, O... |
OMIM:253800 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
| Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated sk... |
OMIM:620351 |
| Typical Nemaline Myopathy |
|
Waddling gait, Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variabil... |
ORPHA:171436 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal EKG, Bowel incontinence, Myocardial infarction, Congestive heart failure, ... |
ORPHA:330001 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Hepatomegaly, Abnormal EK... |
ORPHA:85443 |
| Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Large for gestational age, Dandy-Walker malformation, H... |
OMIM:229850 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus, Weight loss |
ORPHA:411593 |
| Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
| Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal atresia, Pa... |
OMIM:227646 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:616867 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Sensorineural hearing impairment, Esophageal stricture, Nail dystrophy, Dysphagia, Anonychia |
OMIM:616029 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal hair mo... |
ORPHA:894 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... |
ORPHA:131 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Hypopigmentation of hair, Menometrorrhagia, Parti... |
ORPHA:79430 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Diarrhea, Babinski sign, Limb tremo... |
OMIM:608643 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polyposis, V... |
OMIM:175500 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Microtia, Ce... |
OMIM:614643 |
| Fanconi Anemia |
|
Abnormality of skin pigmentation, High palate, Abnormality of the uterus, Abnormality of the hypo... |
ORPHA:84 |
| Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebellar atrophy, Abnormality of visual evoked potentials, Optic atrophy, Dystonia |
OMIM:616875 |
| Satoyoshi Syndrome |
|
Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Sparse or abs... |
ORPHA:3130 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
| Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... |
OMIM:601813 |
| Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Cerebellar vermis hypoplasia, Abnormal ... |
ORPHA:2510 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Distal lower limb amyotrophy, Posteriorly rotated ears, Small for gestational age,... |
ORPHA:506358 |
| Wilson Disease |
|
Limb dystonia, Hypoparathyroidism, Hepatomegaly, Poor motor coordination, Hepatocellular carcinom... |
OMIM:277900 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
| Bloom Syndrome |
|
Male infertility, Hypopigmentation of the skin, Neoplasm of the colon, Premature ovarian insuffic... |
ORPHA:125 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... |
OMIM:228300 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment, Cachexia |
ORPHA:1144 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension |
OMIM:617068 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| 19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or ... |
ORPHA:217346 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Ataxia, Cachexia, Cardiomegaly, Diarrhea, Myopathy, Distal... |
ORPHA:42 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hypopigmentation of hair, Ataxia, Obesity, EEG abnormality, Hypopigmentation of... |
ORPHA:411515 |
| X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Ataxia, Cachexia, Chorea, Ileus, Athetosis, Hypertonia, Constipation, Dyst... |
ORPHA:52503 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
| Hereditary Hemorrhagic Telangiectasia |
|
Gastrointestinal hemorrhage, Conjunctival telangiectasia, Intestinal polyposis, Transient ischemi... |
ORPHA:774 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
| Chediak-Higashi Syndrome |
|
Hepatomegaly, Hypopigmentation of hair, Spontaneous, recurrent epistaxis, Ataxia, Decreased nerve... |
OMIM:214500 |
| Apert Syndrome |
|
Cryptorchidism, Esophageal atresia, Pyloric stenosis, Cleft palate, Narrow palate, Chiari type I ... |
OMIM:101200 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Cerebellar atrophy, Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the larg... |
OMIM:620133 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Broad-based gait, Ataxia, Facial hypotonia, External ear malformati... |
ORPHA:438216 |
| Feingold Syndrome |
|
External ear malformation, Esophageal atresia, Sensorineural hearing impairment, Patent ductus ar... |
ORPHA:1305 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Bilateral cryptorchidism, Coronal hypospadias, Esophageal atresia, Tracheoesophageal fistula, Low... |
OMIM:619859 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Cryptorchidism, Spotty hypopigmentation, Cleft palate, High ... |
ORPHA:401973 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Synophrys, Flexion contracture, Knee flexi... |
OMIM:619503 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Decr... |
OMIM:606070 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Gastroeso... |
OMIM:608800 |
| 7Q31 Microdeletion Syndrome |
|
Speech apraxia, Skeletal muscle atrophy, Torticollis, Hypoplasia of the cochlea, Patent ductus ar... |
ORPHA:251061 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
| Rhabdoid Tumor |
|
Cerebral palsy, Weight loss, Neoplasm of the liver, Hypertension, Hemiplegia, Internal hemorrhage |
ORPHA:69077 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Card... |
OMIM:612999 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Hypopigmentation of hair, Ataxia, EEG with abnormally slow frequencies, Tremor,... |
ORPHA:98794 |
| Choreoacanthocytosis |
|
Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, ... |
ORPHA:2388 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Centrally nucleated skelet... |
OMIM:613327 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin... |
ORPHA:71526 |
| Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Cachexia, Hearing impairment, Poor coordination, Optic atrophy, ... |
OMIM:610965 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity, Hy... |
ORPHA:177910 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:613239 |
| Brittle Cornea Syndrome |
|
Retinal detachment, Sensorineural hearing impairment, Abnormality of hair pigmentation, Cleft pal... |
ORPHA:90354 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Pulmonary embolism, Abnormali... |
ORPHA:90308 |
| Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Cerebellar gliosis, Optic atrophy, Dystonia, Abnormality of visual evoked pot... |
ORPHA:35069 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Intracran... |
ORPHA:90795 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Nail dystrophy, Colitis, Cerebellar hypoplasia, Esophageal stenosis |
OMIM:615190 |
| Cln5 Disease |
|
Cerebellar atrophy, Tremor, Abnormality of visual evoked potentials |
ORPHA:228360 |
| Thyrotoxic Periodic Paralysis |
|
Tremor, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardial contractility, Res... |
ORPHA:79102 |
| Mccune-Albright Syndrome |
|
Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert... |
ORPHA:562 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... |
ORPHA:2494 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, High palate, Conductive hearing impairment, Dystr... |
ORPHA:740 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
| Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis, Tracheoesophageal fistula, Weight loss, Abnormal skeletal muscle morphology... |
ORPHA:142 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Bloody diarrhea, Hypertonia, Hypothyroidism, Hepatomegaly, Vasculitis, Hemato... |
OMIM:615846 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Splenomegaly, Esophageal var... |
ORPHA:64743 |
| Chédiak-Higashi Syndrome |
|
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Hypopigmentation of the... |
ORPHA:167 |
| Vacterl With Hydrocephalus |
|
Microtia, third degree, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Anotia, Ab... |
ORPHA:3412 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Diarrhea, Steatorrhea, We... |
ORPHA:2070 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Retinal cotton wool spot, Abnormal retinal vascular morphology, Rayn... |
ORPHA:247691 |
| Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Anotia, Microtia, Cerebellar hypopla... |
OMIM:614083 |
| Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Dry hair, Pulmonary insufficiency, Abnormal atrioventricul... |
ORPHA:576 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Microtia, Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
| Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Uplifted earlobe, Esophageal atresia, Low posterior hairline, High palate, Bif... |
OMIM:618779 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Low-set, posteriorly rotated ears, Hip contracture, Cachexia, Elbow flexion contracture, Spastic ... |
ORPHA:371364 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... |
ORPHA:309246 |
| Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... |
OMIM:214800 |
| Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Menorrhagia, Constipation |
ORPHA:168816 |
| Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Abnormal cardiovascular system physiology, Dysphagia |
ORPHA:50251 |
| Fatal Familial Insomnia |
|
Ataxia, Weight loss, Hyperhidrosis, Constipation, Abnormal autonomic nervous system physiology, M... |
OMIM:600072 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
| Prader-Willi Syndrome |
|
Decreased muscle mass, Small scrotum, Decreased response to growth hormone stimulation test, Exte... |
OMIM:176270 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:79238 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, High palate, In... |
OMIM:620246 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Congestive heart failure, Patent ductus arteriosus, Flexion contracture,... |
OMIM:616866 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Tachycardia, Rigidity, Opisthotonus, Hyperhidros... |
OMIM:184850 |
| Renal Nutcracker Syndrome |
|
Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Vulval varicose vein, Varicocele... |
ORPHA:71273 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Hyperhidrosis, Weight loss |
ORPHA:86893 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ataxia, Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Weight loss, Lower-limb joint ... |
ORPHA:99885 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Absent extraocular muscles, Abnormal auditory evoked potentials |
OMIM:109120 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:485421 |
| Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Hypermelanotic macule, Abnormal retinal morphology, Di... |
ORPHA:33276 |
| Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss, Hypoplasia of the ear cartilage |
ORPHA:66661 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Hypertrichosis, Low p... |
OMIM:619227 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Paraspinal muscle hypertrophy, Rigidity, Hyperhi... |
ORPHA:3198 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, High, narrow palate, Cleft palate, S... |
ORPHA:2714 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Abnormal fingernail morphology, Weight loss, Pulmonary arterial h... |
ORPHA:1164 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Oral leukoplakia, Nail dystrophy, Esophageal stenosis, Cerebellar hypoplasia |
OMIM:616553 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, High, narrow palate, Sensorineural hearing impairment, Hypopigmented sk... |
ORPHA:3214 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... |
ORPHA:3000 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia, Abnormal antihelix morphology, Large earlobe, Low-set ears |
ORPHA:1438 |
| Aredyld Syndrome |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Cachexia, Splenomegaly, Abnormal tragus morpholo... |
ORPHA:1133 |
| Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary insufficiency, Hypospadias, Intestinal malrotation, Diastasis recti, Esophageal atresia... |
OMIM:265380 |
| Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
| Adenohypophysitis |
|
Orthostatic hypotension, Decreased female libido, Decreased circulating cortisol level, Reduced c... |
ORPHA:95512 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95513 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Cachexia, High, narrow palate, Diarrhea, Rectal p... |
ORPHA:79076 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Scarring alopecia of scalp, Motheaten muscle fibers, Nail dystrophy, Nail dysplasia, Muscular dys... |
OMIM:226670 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Prolonged bleeding after dental extraction,... |
ORPHA:326 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Elevated c... |
ORPHA:913 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Failure to thrive, Cardiomyopathy |
OMIM:613752 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Cachexia, Testicular neoplasm, Ileus, Weight loss, Ovaria... |
ORPHA:83469 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Esophageal atresia, Cleft palate, Microtia, Atresia of the external auditory canal, Low-set ears,... |
OMIM:610536 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Diarrhea, Ulcerative colitis, Weight loss, Inflammation of the large inte... |
OMIM:266600 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the ovary |
ORPHA:543 |
| Cartilage-Hair Hypoplasia |
|
Anal stenosis, Aganglionic megacolon, Sparse facial hair, Sparse eyelashes, Malabsorption, Sparse... |
OMIM:250250 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Abnormal pinna morphology, Septate vagina, Hamartoma of tongue, Esophageal di... |
OMIM:617925 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Chronic otitis media, Male infertility |
OMIM:300991 |
| Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Splenomegal... |
ORPHA:1328 |
| Perry Syndrome |
|
Parkinsonism, Tremor, Weight loss, Abnormality of extrapyramidal motor function, Hypotension |
ORPHA:178509 |
| Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... |
OMIM:168605 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... |
ORPHA:206484 |
| Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... |
ORPHA:75566 |
| Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Hypopigmentation of hair, Ataxia, Protruding tongue, Obesity, EEG abnormality, ... |
ORPHA:411511 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
| Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Re... |
OMIM:603671 |
| Chronic Graft Versus Host Disease |
|
Alopecia, Phimosis, Diarrhea, Esophageal stricture, Xerostomia, Flexion contracture, Weight loss,... |
ORPHA:99921 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... |
OMIM:256710 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal amplitude of flash visual evoked potentials, Retinal degeneration, A... |
ORPHA:168491 |
| Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Dysphagia, Weight loss, Blepharospasm, Hyperkinetic movements,... |
ORPHA:93958 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Broad-based gait, Myopathy, Calf muscle hypertrophy, Cardiomyopathy, Difficulty wa... |
ORPHA:119 |
| Schinzel-Giedion Syndrome |
|
Vocal cord paralysis, Chiari type I malformation, Anteriorly placed anus, Hypertonia, High palate... |
ORPHA:798 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:2971 |
| Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Male hypogonadism, Hypopigmentation of the sk... |
OMIM:219800 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Low anterior hairline, Hypertonia, High palate, Wrist flexion contractur... |
ORPHA:800 |
| Adams-Oliver Syndrome 5 |
|
Hypoplastic toenails, Splenomegaly, Esophageal varix, Absent toenail, Pulmonic stenosis, Pulmonar... |
OMIM:616028 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right v... |
ORPHA:97287 |
| 46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity, Failure to thri... |
OMIM:618201 |
| Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, Protracted diarrhea, Hematochez... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, Protracted diarrhea, Hematochez... |
ORPHA:100082 |
| Wolfram Syndrome 2 |
|
Abnormal bleeding, Diabetes mellitus, Optic neuropathy, Sensorineural hearing impairment, Optic a... |
OMIM:604928 |
| Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Malabsorption, Weight loss |
ORPHA:42642 |
| Feingold Syndrome 1 |
|
Posteriorly rotated ears, Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Gastrointestin... |
OMIM:164280 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Splenomegaly, Hyperhidrosis, Weight loss |
ORPHA:391 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea |
ORPHA:2795 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, Hematemesis, Cardiogenic shock,... |
ORPHA:100075 |
| Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, Weight loss, Melena, Protracted... |
ORPHA:100080 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Cachexia, Diarrhea, Esophageal varix, Primary adrenal insufficiency, Hypov... |
ORPHA:275761 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Abnormali... |
ORPHA:170 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy |
OMIM:601152 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Hiatus hernia, Hypertonia, Gastroesophageal reflux, Myoclonus, Syncope |
OMIM:614618 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Dyspareunia, Myocardial infarction, Sudden cardiac death, Diarrhea, ... |
ORPHA:36426 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Facial palsy, Clonus, Left ventricular noncompaction cardiomyopathy, Tremor, Cardio... |
OMIM:619424 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly, Mitral regurgitation, Myoclonus, Cherry red spo... |
ORPHA:309155 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Cerebellar vermis hypoplasia, Uplifted earlobe, Cleft hard palate, Flexion contrac... |
ORPHA:261552 |
| Alveolar Echinococcosis |
|
Ataxia, Eosinophilia, Portal hypertension, Pancreatic cysts, Vertigo, Weight loss, Hemiparesis, A... |
ORPHA:284 |
| Pseudomyxoma Peritonei |
|
Intestinal obstruction, Weight loss, Constipation, Inflammation of the large intestine |
ORPHA:26790 |
| Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Weight loss |
ORPHA:517 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Cachexia, Optic atrophy, Numerous pigmented freckles, Spasticity, Retinopathy, Hearing im... |
ORPHA:220295 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Secretory diarrhea... |
OMIM:619377 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Ataxia, Cardiac arrest, Spastic hemiparesis, Diarrhea, Dilated ... |
ORPHA:20 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Hypospadias, Cryptorchidism, Blue irides, Obesity, Congenital hypothyroidism, ... |
OMIM:614613 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormality of visual evoked potentials, Diffuse cerebellar atrophy, Optic atrophy |
ORPHA:480898 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Malabsorption, Paronychia, Chronic diarrhea, ... |
ORPHA:37 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Abnormal hair morphology, Flexion contracture, Weight loss, Abnormality of skin pigment... |
ORPHA:1979 |
| Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Vocal cord paralysis, Abnormality of... |
OMIM:619488 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Hypopigmentation of hair, Protruding tongue, EEG with focal epileptiform discha... |
ORPHA:98795 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Cryptorchidism, High, narrow ... |
ORPHA:96169 |
| Caroli Disease |
|
Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix, Weight los... |
ORPHA:53035 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Retinal vascular malformation, Cereb... |
ORPHA:42775 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Periodic paralysis, Rhabdomyolysis, Weight loss, Palpitations, Goiter |
OMIM:188580 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi... |
OMIM:614302 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Congenital muscular torticollis, Intestinal malrotation, Hiatus hernia, Esophageal ... |
ORPHA:2538 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss,... |
ORPHA:171876 |
| Cap Polyposis |
|
Atrophic gastritis, Diarrhea, Weight loss, Hematochezia, Constipation, Colorectal polyposis |
ORPHA:160148 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Optic atrophy, Dystonia, Abnormality of visual evoked potentials, Intention... |
ORPHA:309263 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Alopecia, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal cir... |
ORPHA:2298 |
| Feingold Syndrome Type 1 |
|
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Sensorineural hearing impairment, Gastro... |
ORPHA:391641 |
| Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Diabetes insipidus, Weight loss |
ORPHA:30925 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage, Rigidity, Spastic tetraplegia, Hypertonia, Vomiting, Gait disturbance, Spasti... |
ORPHA:88619 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Esophageal stricture, Telangiectasia, Dystrophic fing... |
ORPHA:158673 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Esophageal atresia, Congenital pyloric atresia, Nail dystrophy, Nail dysplasia, Intractable diarr... |
OMIM:226730 |
| Ciliary Dyskinesia, Primary, 9 |
|
Recurrent otitis media, Chronic otitis media, Male infertility |
OMIM:612444 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Increase... |
OMIM:620278 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Malabsorption, Diarrhea, Hepatosplenomegaly, We... |
ORPHA:98850 |
| Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Right ventricular fail... |
ORPHA:100078 |
| Tetrasomy 12P |
|
Cachexia, Abnormal soft palate morphology, Sparse eyebrow, Hypohidrosis, Sparse hair, Anal atresia |
ORPHA:884 |
| Methimazole Embryofetopathy |
|
Hypospadias, Abnormality of the thyroid gland, Esophageal atresia, Tracheoesophageal fistula, Hyp... |
ORPHA:1923 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Weight loss, Inflammation of the large intestine |
OMIM:191390 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Flexion contracture, High palate, Increased variability in muscle fiber diameter, C... |
OMIM:616470 |
| Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Urinary... |
OMIM:125310 |
| Erdheim-Chester Disease |
|
Hypogonadotropic hypogonadism, Ataxia, Abnormal cerebellum morphology, Congestive heart failure, ... |
ORPHA:35687 |
| Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Diarrhea, Horner syndrome, Weight loss, Hypertension, Myoclonus, Failure to thrive |
OMIM:256700 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Intracranial hemorrhage, Inflammation of the large intestine, Hyp... |
ORPHA:906 |
| Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... |
ORPHA:79431 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Generalized hyperpigmentation, Splenomegaly, Weight loss, Chronic oti... |
ORPHA:47612 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Raynaud phenomenon, Weight loss, Cardiom... |
ORPHA:767 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Weight loss |
ORPHA:103910 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Hypertonia, Gastroesophageal reflux, Aplasi... |
ORPHA:818 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:100024 |
| Short Syndrome |
|
Alopecia, Diabetes mellitus, Sensorineural hearing impairment, Weight loss, Sparse hair |
ORPHA:3163 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Cardiomegaly, Narrow palate, Macroglossia, High palate, Hypoplasia of the thymus, Lo... |
OMIM:617022 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Cushing Disease |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ... |
ORPHA:96253 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Broad-based gait, Involuntary movements, Precoci... |
ORPHA:438213 |
| Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
| Proteus Syndrome |
|
Central heterochromia, Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Abnorma... |
ORPHA:744 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl... |
OMIM:201750 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Right ventricular failure, Diarrhea, Heart murmur, Weight loss, Neoplasm of the liv... |
ORPHA:100085 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Ataxia, Intraventricular hemorrhage, Diarrhea, Weight loss, Clumsine... |
ORPHA:420741 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
| Myasthenic Syndrome, Congenital, 19 |
|
Facial palsy, High palate, Gastroesophageal reflux, Low-set ears, Increased variability in muscle... |
OMIM:616720 |
| Solitary Fibrous Tumor |
|
Vaginal neoplasm, Weight loss, Neoplasm of the liver, Constipation, Prostate cancer, Hypoinsuline... |
ORPHA:2126 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albi... |
OMIM:203300 |
| Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Excessive bleeding after a venipuncture, Myocarditis, Diarrhea, Odynophagi... |
ORPHA:319213 |
| Central Diabetes Insipidus |
|
Diarrhea, Failure to thrive, Diabetes insipidus, Weight loss |
ORPHA:178029 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Diarrhea, Weight loss, Hypertension, Vomiting, Extrapyramidal dyskinesia, H... |
ORPHA:134 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Cerebellar vermis hypoplasia, Uplifted earlobe, Cleft hard palate, Gastrointestina... |
ORPHA:2152 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Sensorineural hearing impairment, Chronic diarrhea, Stea... |
ORPHA:3217 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Concave nail, Esophageal web, Dysphagia, Glossitis |
ORPHA:54028 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormality of visual evoked potentials, Optic atrophy, Urinary incontinence, Dystonia |
ORPHA:309256 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Vomiting, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
| Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
| Crome Syndrome |
|
Renal tubular epithelial necrosis, Cerebellar dysplasia |
OMIM:218900 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cerebellar atrophy, Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Cafe-au-lait spot, Hypo... |
OMIM:618541 |
| Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Weight loss... |
ORPHA:1332 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Esophageal varix, Bile duct proliferation, Portal hypertension |
OMIM:619662 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Tracheoesophageal fistula, Cachexia, Intestinal atresia |
ORPHA:93941 |
| Vipoma |
|
Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, Follicular thyroid carcin... |
ORPHA:97282 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Otitis media, Immotile sperm |
OMIM:613807 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Biliary hyperplasia, Pancre... |
ORPHA:731 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
| Brucellosis |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Pericarditis, Small for gestational age,... |
ORPHA:1304 |
| Arthrogryposis Multiplex Congenita 6 |
|
Hypospadias, Akinesia, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogry... |
OMIM:619334 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small scrotum, Small for gestational age, Intestinal malrotation, Portal hypertension, Esophageal... |
OMIM:613658 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Protruding ear, Coloboma, Gastroesophageal reflux, Hepatomegaly, T... |
OMIM:619534 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... |
OMIM:263200 |
| Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Low-set ears |
OMIM:615272 |
| Grfoma |
|
Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Increased cir... |
ORPHA:97261 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Calcinosis, Alopecia, Myositis, Bundle branch block, Pericarditis, A... |
ORPHA:93672 |
| Uveal Melanoma |
|
Retinal detachment, Vitreous hemorrhage, Abnormal fundus morphology |
ORPHA:39044 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
| Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials, Optic disc pallor |
ORPHA:314389 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis |
OMIM:277320 |
| Acute Bilirubin Encephalopathy |
|
Hypertonia, Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Cerebral palsy, Sensorineural hearing impairment, Hypertonia, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Splenomegaly, ... |
ORPHA:464329 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Partial absence of cerebellar vermis, Cleft palate, Skeletal muscle hypertr... |
OMIM:613150 |
| Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
| Ppoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, Elev... |
ORPHA:97278 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Palpitations, Difficulty walking, Increased in... |
OMIM:255125 |
| Ciliary Dyskinesia, Primary, 18 |
|
Recurrent otitis media, Male infertility, Immotile sperm |
OMIM:614874 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, Diab... |
ORPHA:97283 |
| Eosinophilic Fasciitis |
|
Myositis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Paresthesia, Muscular edema |
ORPHA:3165 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Ataxia, Weight loss |
ORPHA:79242 |
| Microsporidiosis |
|
Glossitis, Myositis, Cachexia, Myocarditis, Peritonitis, Chronic diarrhea, Abnormality of the par... |
ORPHA:2552 |
| Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Abnormal fallopian tube morphology, Abnormality of the middle ear, Ab... |
ORPHA:722 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Cerebellar atrophy, Cerebellar dysplasia, Hypospadias, Highly ... |
ORPHA:487796 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Hiatus hernia, Hypertonia, Gastroesophageal reflux, Myoclonus |
OMIM:614619 |
| Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
| Immunodeficiency 27A |
|
Splenomegaly, Hepatosplenomegaly, Diarrhea, Weight loss |
OMIM:209950 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Familial Thrombocytosis |
|
Abnormal bleeding, Transient ischemic attack, Splenomegaly, Vertigo, Weight loss, Hyperhidrosis, ... |
ORPHA:71493 |
| Majeed Syndrome |
|
Hepatomegaly, Cachexia, Malabsorption, Splenomegaly, Flexion contracture, Weight loss, Failure to... |
ORPHA:77297 |
| Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Pericarditis, Purpura, My... |
ORPHA:91139 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Myositis, Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Hyperthyroi... |
ORPHA:37042 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Highly arched eyebrow, Hyperhidrosis, Type 2 muscle fiber predominance, EEG abnormality, Increase... |
OMIM:619173 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Abno... |
OMIM:227650 |
| Noonan Syndrome 1 |
|
Male infertility, Abnormal bleeding, Failure to thrive in infancy, Hypospadias, Cryptorchidism, S... |
OMIM:163950 |
| Follicular Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:545 |
| Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism, Progressive hearing impairment, Weight loss |
ORPHA:514 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Malabsorption, Intestinal perforation, Tracheo... |
ORPHA:537 |
| Neuroocular Syndrome |
|
Brittle hair, Synophrys, Lens coloboma, Iris coloboma, Hypoplasia of the fovea, Scapular winging,... |
OMIM:619539 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, High, narrow palate, Sensorineural hearing impai... |
ORPHA:53271 |
| Glucagonoma |
|
Hepatomegaly, Increased circulating cortisol level, Constipation, Adrenocortical adenoma, Elevate... |
ORPHA:97280 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Gas... |
ORPHA:84064 |
| Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Skeletal muscle atrophy, Anal stenosis, Cachexia, Rhabdomyosarcoma, Abnor... |
ORPHA:647 |
| Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Chronic diarrhea, Weight loss, Protein-losing enteropathy, Jejunitis |
ORPHA:398063 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Cystic Echinococcosis |
|
Hepatomegaly, Eosinophilia, Abnormality of the testis size, Weight loss, Ovarian cyst, Abnormalit... |
ORPHA:400 |
| Nephroblastoma |
|
Aniridia, Neoplasm of the liver, Hypertension, Weight loss |
ORPHA:654 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Exaggerated startle response, Hypertonia, Dysphagia, Spasticity, Thick eyebro... |
OMIM:618367 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Sparse eyelashes, Esophageal stricture, Pterygium of nails, Reticular hyperpig... |
OMIM:224230 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Recurrent otitis media, Male infertility |
OMIM:618948 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction, Functional intestina... |
ORPHA:1333 |
| Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Abnormality of the peripheral nervous system, Orchitis, Ra... |
ORPHA:48435 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Tachycardia, Peptic ulcer, Eosinophilia, Splenomegaly, Diarrhea, Weight loss, Synco... |
ORPHA:98849 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Muscular dystrophy, Increased variability in mus... |
OMIM:616538 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Shortened QT interval, Primary hype... |
ORPHA:143 |
| Cirrhosis, Familial |
|
Hypertension, Esophageal varix, Pulmonary arterial hypertension |
OMIM:215600 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
| Leishmaniasis |
|
Splenomegaly, Hepatomegaly, Abnormal bleeding, Weight loss |
ORPHA:507 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Camptodactyly of finger, Cachexia |
ORPHA:2774 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p... |
ORPHA:999 |
| Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Optic atrophy, Dystonia, Abnormality of visual evoked potentials, Intention... |
ORPHA:309271 |
| Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Spider hemangioma, Generalized amyotrophy, Neoplasm of the gallbl... |
ORPHA:171 |
| Yao Syndrome |
|
Diarrhea, Xerostomia, Pericarditis, Weight loss |
OMIM:617321 |
| Immunodeficiency 31C |
|
Hepatomegaly, Villous atrophy, Skeletal muscle atrophy, Diabetes mellitus, Splenomegaly, Diarrhea... |
OMIM:614162 |
| Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
| Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Weight loss, Neoplasm of the liver, Vomiting, Nausea |
ORPHA:90003 |
| Marburg Hemorrhagic Fever |
|
Odynophagia, Bloody diarrhea, Vomiting, Internal hemorrhage, Nausea, Abnormal bleeding, Excessive... |
ORPHA:99826 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Hyperhidrosis, Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Facial hypotonia, Cleft soft palate |
OMIM:614526 |
| Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Hematemesis, Esophageal... |
ORPHA:480520 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Congestive heart failure, Diarrhea, Gastrointestinal dysmotility, Protrac... |
ORPHA:67 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hashimoto thyroiditis, Large vessel vasculitis, Weight loss, Hydrocele testis, Renovascular hyper... |
ORPHA:49041 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Enlarged kidney, Tracheoesophageal fistula, Anal atresia |
OMIM:314390 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
| Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Hypopigmented skin patches, Perin... |
ORPHA:199310 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Diarrhea, Internal hemorrhage, Capillary leak, Melena... |
ORPHA:340 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
| Igg4-Related Aortitis |
|
Intestinal obstruction, Hypereosinophilia, Weight loss |
ORPHA:449400 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Failure to thrive, Gastroesophageal reflux, Increased variability in muscle fiber d... |
OMIM:615595 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response, Hypertonia |
ORPHA:163985 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Malabsorption, Vertigo, ... |
ORPHA:285 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
| Thymoma |
|
Myositis, Ulcerative colitis, Weight loss, Prostate neoplasm, Neoplasm of the gastrointestinal tr... |
ORPHA:99867 |
| Kindler Syndrome |
|
Ridged nail, Anal stenosis, Esophageal stenosis, Telangiectasia of the skin, Phimosis, Spotty hyp... |
OMIM:173650 |
| Immunodeficiency 12 |
|
Esophageal stricture, Recurrent aphthous stomatitis, Decreased body weight |
OMIM:615468 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Diarrhea, Weight loss, Hypotension, Arrhythmia, Pancreatitis |
ORPHA:188 |
| Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction, Clitoral hypertrophy |
OMIM:150700 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Senior-Boichis Syndrome |
|
Diffuse cerebral atrophy, Portal hypertension, Esophageal varix, Hepatosplenomegaly, Hypertension |
ORPHA:84081 |
| Capillary Malformation-Arteriovenous Malformation |
|
Neurogenic bladder, Cerebral arteriovenous malformation |
ORPHA:137667 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Hypereosinophilia, Weight loss |
ORPHA:2902 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Vasculitis, Weight loss |
ORPHA:324964 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials |
OMIM:614457 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Diarrhea, Thyrotoxicosis with diffuse goiter, Hand tr... |
ORPHA:424 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Hypospadias, Hypoplastic toenails, Crypto... |
OMIM:619522 |
| Stickler Syndrome |
|
Retinal detachment, Skeletal muscle atrophy, Cachexia, Hemiplegia/hemiparesis, Sensorineural hear... |
ORPHA:828 |
| Friedreich Ataxia |
|
Abnormality of visual evoked potentials, Optic atrophy |
OMIM:229300 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, Functional abnormality of the... |
ORPHA:90362 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials, Hematuria |
ORPHA:3121 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent otitis media, Male infertility |
OMIM:614935 |
| Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Portal hypertension, Cachexia, Splenomegaly, Hepatosplenomegaly,... |
ORPHA:824 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
| Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
| Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response, Hypertonia |
OMIM:272800 |
| Ovarian Fibroma |
|
Gonadal calcification, Peritonitis, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Tachycardia, Weight loss, Constipation, Vomiting, Failure to thrive, Glossitis |
ORPHA:35858 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
| Idiopathic Bronchiectasis |
|
Myocardial infarction, Cachexia |
ORPHA:60033 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... |
ORPHA:786 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Ectopic posterior pituitary, Decreased response to growth hormone stimulat... |
ORPHA:95494 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar dysplasia, Retinal atrophy, Optic atrophy, Coloboma, Hypoplasia of the retina, EEG abn... |
OMIM:253280 |
| Parkes Weber Syndrome |
|
Nephrotic syndrome, Urinary retention, Cerebral arteriovenous malformation |
ORPHA:90307 |
| Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Retinal dysplasia, Cerebellar dysplasia |
OMIM:601374 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
OMIM:231550 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Gastritis, Duodenal ulcer, Splenomegaly, Diarrhea, Weight loss, Colitis, Vomitin... |
OMIM:619381 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Parkinsonism, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:605543 |
| Congenital Tracheomalacia |
|
Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, Gastroesop... |
ORPHA:95430 |
| Maternal Phenylketonuria |
|
Hypoplastic helices, Esophageal atresia, High palate |
ORPHA:2209 |
| White-Sutton Syndrome |
|
Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia |
OMIM:616364 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Abnormal testis morphology, Weight loss |
ORPHA:54251 |
| Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Hand tremor, Weight loss, Activati... |
ORPHA:99819 |
| Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Temporal cortical atrophy, Hepat... |
ORPHA:263508 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Cachexia, Abnormality of the thyroi... |
ORPHA:1969 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Esophageal stricture, Paronychia, Dilated cardiomyopathy, Gastrointestinal inflammation... |
ORPHA:79404 |
| Malakoplakia |
|
Abnormal bleeding, Abnormality of the menstrual cycle, Orchitis, Diarrhea, Neoplasm of the rectum... |
ORPHA:556 |
| Diffuse Alveolar Hemorrhage |
|
Pulmonary venous hypertension, Weight loss |
ORPHA:90060 |
| Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Phimosis, Esophageal stricture, Flexion contracture, Abnormality of skin... |
ORPHA:2908 |
| Dermatomyositis |
|
Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia, Telangie... |
ORPHA:221 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Ankle flexion cont... |
ORPHA:2020 |
| Ciliary Dyskinesia, Primary, 1 |
|
Conductive hearing impairment, Chronic otitis media, Male infertility |
OMIM:244400 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Raynaud phenomenon, Weight loss, Pulmonary venous hypertension, Failure to thrive, ... |
ORPHA:79128 |
| Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Congestive heart failure, Pituitary adenoma, P... |
OMIM:160980 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Weight loss |
ORPHA:411703 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Adrenal hypoplasia, Submucous cleft hard palate, Bilater... |
OMIM:157170 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Xerostomia, Enlarged lacrimal glands, Thyroiditis, Weight loss, Enlargement of parotid ... |
ORPHA:79078 |
| Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
| Oculopalatocerebral Syndrome |
|
Spasticity, Remnants of the hyaloid vascular system, Cleft palate |
OMIM:257910 |
| Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Cholelithiasis, Increased variability in muscle fiber diameter |
OMIM:232800 |
| Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Vasculitis, Weight loss |
OMIM:180300 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Cardiac arrest, Myocarditis, Thyroiditis, Weight loss |
ORPHA:139402 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hypospadias, Splenomegaly, Hepatosplenomegaly, Weight loss, Hypertrophic cardiomyop... |
OMIM:613673 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Esophageal atresia, Uterus didelphys... |
ORPHA:93271 |
| Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
| Sarcoidosis |
|
Heart block, Ventricular tachycardia, Hypothyroidism, Hypopigmentation of the skin, Hepatomegaly,... |
ORPHA:797 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Hyphema, Retinal nonattachment, Retinal fold, Iris coloboma |
OMIM:221900 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... |
ORPHA:79433 |
| Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Optic neuropathy, Splenomegaly, Enlarged lacrimal glands, Weight loss, Chorioretini... |
OMIM:181000 |
| Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Right ventricular failure, Increased pulmonary vascular resistance, Decreased ferti... |
ORPHA:60025 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Metachromatic Leukodystrophy |
|
Tremor, Abnormality of visual evoked potentials, Urinary incontinence, Dystonia |
ORPHA:512 |
| Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Alopecia, Ataxia, Splenomegaly, Myocardi... |
ORPHA:50918 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Malabsorption, Chorea, Aplasia/Hypoplasia ... |
ORPHA:565 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... |
ORPHA:91500 |
| Rat-Bite Fever |
|
Pericarditis, Myocarditis, Diarrhea, Tendonitis, Weight loss, Vomiting, Pancreatitis, Parotitis |
ORPHA:31205 |
| Q Fever |
|
Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Vasculitis, Hepatosplenomegaly, Abnormal l... |
ORPHA:781 |
| Liposarcoma |
|
Paresthesia, Weight loss |
ORPHA:69078 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Recurrent otitis media, Male infertility |
OMIM:619607 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Perianal abscess, Diarrhea, Weight loss, Chronic constipation, Inflammation of... |
OMIM:301074 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Posteriorly rotated ears, Widow's peak, Coarse hair, High pal... |
ORPHA:1974 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of the large ... |
OMIM:617718 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
| Interstitial Cystitis |
|
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... |
ORPHA:37202 |
| Seckel Syndrome |
|
Abnormal earlobe morphology, Sparse scalp hair, Absent earlobe, Cachexia |
ORPHA:808 |
| Glucose-Galactose Malabsorption |
|
Diarrhea, Failure to thrive, Vomiting, Weight loss |
ORPHA:35710 |
| Glycogen Storage Disease Xii |
|
Hepatomegaly, Splenomegaly, Increased variability in muscle fiber diameter, Low posterior hairlin... |
OMIM:611881 |
| Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Diarrhea, Weight loss, Inflammation of the large intestine, R... |
ORPHA:29207 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation |
OMIM:610655 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Foot joint contracture, Anal fissure, Flexion contracture, Dilated cardiomyopathy, Gastrointestin... |
ORPHA:79408 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, P... |
ORPHA:103918 |
| Castleman Disease |
|
Abnormality of the gastrointestinal tract, Restrictive cardiomyopathy, Intestinal obstruction, We... |
ORPHA:160 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Cerebral arteriovenous malformation |
OMIM:175050 |
| Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
| Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Hepatosplenomeg... |
OMIM:219700 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials, Pontocerebellar atrophy |
ORPHA:258 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Vesicoureteral reflux, Cerebral arteriovenous malformation |
OMIM:150230 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Choriocapillaris atrophy, Cerebral arteriovenous malformation |
OMIM:600376 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Abnormality of the anterior pituitary, Thyroiditis, Weight loss, Arte... |
ORPHA:449395 |
| Retinoblastoma |
|
Vitritis, Cleft palate, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Pinealoma |
OMIM:180200 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:33577 |
| Pneumocystosis |
|
Weight loss |
ORPHA:723 |
| Pyomyositis |
|
Myositis, Weight loss, Sudden cardiac death, Testicular teratoma |
ORPHA:764 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309031 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Aciduria, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Abnormality of ... |
OMIM:203700 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Neuroendocrine neoplasm, Nausea, Weight loss |
ORPHA:100086 |
| Marfan Syndrome |
|
Retinal detachment, Skeletal muscle atrophy, Cachexia, High, narrow palate, Congestive heart fail... |
ORPHA:558 |
| Nocardiosis |
|
Pericarditis, Peritonitis, Thyroiditis, Weight loss, Chorioretinitis, Abnormality of the adrenal ... |
ORPHA:31204 |
| Vater/Vacterl Association |
|
Hypospadias, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, Failure to ... |
OMIM:192350 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Optic nerve compression, Abnormality of visual evoked potentials |
ORPHA:667 |
| Phacoanaphylactic Uveitis |
|
Vitritis, Abnormal vitreous humor morphology, Retinal arteritis, Macular edema, Hyphema, Vitreore... |
ORPHA:209959 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Weight loss |
ORPHA:86884 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Weight loss |
ORPHA:99978 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Multiple Myeloma |
|
Splenomegaly, Paresthesia, Functional abnormality of the gastrointestinal tract, Weight loss |
ORPHA:29073 |
| Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation |
OMIM:187300 |
| Juvenile Polyposis Syndrome |
|
Cerebral arteriovenous malformation |
ORPHA:2929 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Pancreatoblastoma |
|
Diarrhea, Vomiting, Pancreatic calcification, Weight loss |
ORPHA:677 |
| Malt Lymphoma |
|
Abnormality of the thyroid gland, Hyperhidrosis, Constipation, Weight loss |
ORPHA:52417 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hepatosplenomegaly, Flexion contracture, Weight loss |
ORPHA:85408 |
| Juvenile Xanthogranuloma |
|
Multiple cafe-au-lait spots, Hyphema, Asymmetry of iris pigmentation |
ORPHA:158000 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
| Goodpasture Syndrome |
|
Pulmonary hemorrhage, Weight loss |
OMIM:233450 |
