Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Retinitis Pigmentosa 30 |
|
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... |
OMIM:607921 |
Retinitis Pigmentosa 57 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:613582 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
Immunodeficiency 51 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... |
OMIM:613953 |
Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
Whim Syndrome 1 |
|
Abnormal female external genitalia morphology, Recurrent upper respiratory tract infections, Recu... |
OMIM:193670 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Reduction of oligodendroglia |
OMIM:312080 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
Retinitis Pigmentosa 11 |
|
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... |
OMIM:600138 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617871 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... |
OMIM:613860 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... |
OMIM:611521 |
Leydig Cell Hypoplasia |
|
Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I... |
ORPHA:755 |
Glut1 Deficiency Syndrome 1 |
|
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis |
OMIM:606777 |
Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... |
OMIM:612964 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... |
OMIM:300510 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos... |
ORPHA:71277 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Primary amenorrhea, Aplasia of ... |
OMIM:273250 |
Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Epididymitis, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Variant Abeta2M Amyloidosis |
|
Renal amyloidosis, Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, ... |
ORPHA:314652 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology |
ORPHA:217260 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Hereditary Butyrylcholinesterase Deficiency |
|
Paralysis, Chronic infection |
ORPHA:132 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Spasticity |
OMIM:607624 |
Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
Immunodeficiency 61 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... |
OMIM:300310 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paralysis |
OMIM:608634 |
Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections |
OMIM:608957 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... |
OMIM:617442 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:618078 |
Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren... |
OMIM:613500 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... |
ORPHA:168563 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... |
OMIM:605258 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Glio... |
OMIM:604484 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Retinopathy, Gliosis |
OMIM:615119 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... |
ORPHA:319552 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Optic nerve dysplasia |
OMIM:246000 |
Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... |
ORPHA:90797 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis |
OMIM:612740 |
46,Xy Sex Reversal 8 |
|
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal |
OMIM:614279 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recur... |
OMIM:613501 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... |
ORPHA:99429 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... |
OMIM:614837 |
Perrault Syndrome 4 |
|
Gait ataxia, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased circulating g... |
OMIM:615300 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... |
OMIM:613493 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Immunodeficiency 112 |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, BCGitis, BCGosis, Recurrent bacter... |
OMIM:620449 |
Retinitis Pigmentosa 86 |
|
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... |
OMIM:618613 |
Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... |
OMIM:619665 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otitis media, P... |
OMIM:307200 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... |
OMIM:614841 |
Inherited Creutzfeldt-Jakob Disease |
|
Astrocytosis, Abnormal autonomic nervous system physiology, Amyloidosis of peripheral nerves, Ves... |
ORPHA:282166 |
L-2-Hydroxyglutaric Aciduria |
|
Optic atrophy, Gliosis, L-2-hydroxyglutaric acidemia |
OMIM:236792 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:616873 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... |
OMIM:618117 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis |
OMIM:613710 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Mirage Syndrome |
|
Sepsis, Microphallus, Recurrent urinary tract infections, Decreased testicular size, Paraplegia, ... |
OMIM:617053 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Clumsiness |
OMIM:610738 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections |
OMIM:613502 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Recurrent... |
OMIM:240500 |
Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... |
OMIM:209920 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can... |
ORPHA:83471 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... |
OMIM:617690 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis |
OMIM:605285 |
Acute Peripheral Arterial Occlusion |
|
Paralysis |
ORPHA:90064 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Axonal loss, Gliosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
Leigh Syndrome, Nuclear |
|
Optic atrophy, Pigmentary retinopathy, Gliosis |
OMIM:256000 |
Lethal Congenital Contracture Syndrome 7 |
|
Paralysis |
OMIM:616286 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re... |
ORPHA:572 |
Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Retinoschisis, Optic neuropathy, Chorioretinal atrophy |
OMIM:615651 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Recurrent otitis... |
OMIM:243700 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bronchitis, Recurrent bacterial infections |
OMIM:612692 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent gastroenteritis, Recurr... |
ORPHA:275 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
Amyloidosis, Finnish Type |
|
Generalized amyloid deposition, Orthostatic hypotension, Renal glomerular amyloid deposition, Opt... |
OMIM:105120 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent mycobacterial infections, Invasive fungal infection, Chronic mucocutaneous candidiasis,... |
ORPHA:98813 |
46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... |
OMIM:612965 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Paralysis, Parkinsonism |
OMIM:105500 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Breast hy... |
ORPHA:432 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea, ... |
OMIM:158330 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Chronic mucocutaneous candidiasis, Severe recurrent varicella, Recurrent cutaneous fungal... |
ORPHA:276 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent tonsillitis,... |
ORPHA:183675 |
Hydatidiform Mole |
|
Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Elevated circulating lu... |
ORPHA:90793 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Recurrent... |
OMIM:607594 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Recurrent fu... |
ORPHA:2688 |
X-Linked Adrenoleukodystrophy |
|
Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Paraparesis,... |
ORPHA:43 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Immunodeficiency 115 With Autoinflammation |
|
Recurrent bacterial infections, Recurrent viral infections, Candida esophagitis |
OMIM:620632 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
ORPHA:169079 |
Primary Angiitis Of The Central Nervous System |
|
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia |
ORPHA:140989 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Hypokalemic Periodic Paralysis |
|
Respiratory paralysis, Paralysis, Periodic hypokalemic paresis |
ORPHA:681 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent pneumonia, Sepsis, Recurrent bacterial infections |
OMIM:617475 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... |
ORPHA:911 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Myeloma, Multiple |
|
Paraproteinemia, Amyloidosis |
OMIM:254500 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis |
OMIM:614198 |
Selective Igm Deficiency |
|
Recurrent bronchitis, Meningitis, Recurrent sinusitis, Recurrent infections, Recurrent herpes, Re... |
ORPHA:331235 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613496 |
Renal Coloboma Syndrome |
|
Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma |
ORPHA:1475 |
46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... |
OMIM:278850 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent urinary tract... |
OMIM:613179 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio... |
ORPHA:169090 |
Juvenile Glaucoma |
|
Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu... |
ORPHA:98977 |
Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
Spinocerebellar Ataxia Type 3 |
|
Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par... |
ORPHA:98757 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Decreased fertility, C... |
ORPHA:90796 |
Immunodeficiency 10 |
|
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Recurren... |
OMIM:612783 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Aapoaiv Amyloidosis |
|
Renal amyloidosis, Paraproteinemia, Elevated circulating creatinine concentration, Hyperlipidemia... |
ORPHA:439232 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Ataxia |
OMIM:603585 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent viral infections, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... |
ORPHA:486 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... |
ORPHA:3130 |
Papillorenal Syndrome |
|
Macular degeneration, Optic disc coloboma, Retinal coloboma, Elevated circulating creatinine conc... |
OMIM:120330 |
Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... |
ORPHA:325124 |
Familial Cervical Artery Dissection |
|
Paralysis |
ORPHA:36382 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Recurrent bacterial infect... |
OMIM:241410 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... |
ORPHA:3109 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... |
OMIM:610984 |
Specific Granule Deficiency 1 |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections |
OMIM:245480 |
Snakebite Envenomation |
|
Hypopituitarism, Paralysis, Respiratory paralysis, Pseudobulbar paralysis |
ORPHA:449285 |
Immunodeficiency 23 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Myocl... |
OMIM:615816 |
Amyloidosis, Hereditary Systemic 1 |
|
Amyloidosis, Pulmonary edema, Peripheral axonal neuropathy, Orthostatic hypotension due to autono... |
OMIM:105210 |
Toxin-Mediated Infectious Botulism |
|
Diaphragmatic paralysis, Paralysis, Cerebral palsy |
ORPHA:230800 |
Hypocomplementemic Urticarial Vasculitis |
|
Cerebral palsy, Hemiplegia/hemiparesis, Ataxia, Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Abnormal sperm motility, Female infertility, Recurrent otitis... |
ORPHA:244 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Pneumocystis carinii pneumonia, Sepsis, Enteroviral encephalitis, Ankle clonus, Meningitis, Recur... |
OMIM:308230 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Parotitis, Limb ataxia... |
ORPHA:51636 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Spastic tet... |
OMIM:272750 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:618048 |
Leukocyte Adhesion Deficiency, Type I |
|
Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Recurrent bacter... |
OMIM:116920 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233710 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Severe varicella zoster infection, Recurrent viral infections, Recurrent fungal infections, Recur... |
OMIM:606367 |
Estrogen Resistance |
|
Primary amenorrhea, Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Cutaneous amyloidosis |
OMIM:613955 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... |
OMIM:146255 |
Pgm3-Cdg |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent respiratory infections, Myoclo... |
ORPHA:443811 |
46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Recurrent otitis media, Hypoplastic labia majora, Hypoplasia of the uterus, A... |
OMIM:154230 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Recurrent bacterial infecti... |
OMIM:616005 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis, Goiter |
ORPHA:83601 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233690 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis, External genital hypoplasia |
OMIM:242100 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor, Goiter |
OMIM:613239 |
Japanese Encephalitis |
|
Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Infectious encephalitis, Abnormality o... |
ORPHA:79139 |
Machado-Joseph Disease Type 1 |
|
Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,... |
ORPHA:276241 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Recurrent urinary tract infections, Recurrent fungal infections, Atax... |
ORPHA:221139 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Mannosidosis, Alpha B, Lysosomal |
|
Spasticity, Limb ataxia, Gait ataxia, Babinski sign, Abnormal pyramidal sign, Recurrent bacterial... |
OMIM:248500 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Recurrent enteroviral infections, Recurrent fungal infections, Recurr... |
ORPHA:331206 |
Amyloidosis, Hereditary Systemic 2 |
|
Generalized amyloid deposition, Renal amyloidosis |
OMIM:105200 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... |
OMIM:601495 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Cryptor... |
OMIM:612541 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
Foodborne Botulism |
|
Diaphragmatic paralysis, Paralysis, Cerebral palsy |
ORPHA:228371 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... |
OMIM:615468 |
Cystic Fibrosis |
|
Absent vas deferens, Recurrent respiratory infections, Recurrent Burkholderia cepacia infections,... |
ORPHA:586 |
Tsh-Secreting Pituitary Adenoma |
|
Periodic hypokalemic paresis, Increased circulating prolactin concentration, Decreased fertility ... |
ORPHA:91347 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Polycystic ovaries |
ORPHA:2176 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Sickle Cell Disease |
|
Recurrent bacterial infections, Cholelithiasis, Priapism |
OMIM:603903 |
Patent Urachus |
|
Recurrent gram-negative bacterial infections, Cystocele, Recurrent urinary tract infections |
ORPHA:431341 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Cutaneous amyloidosis |
OMIM:105250 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis, Goiter |
OMIM:188580 |
Postinfectious Vasculitis |
|
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... |
ORPHA:48435 |
Amyloidosis, Cutaneous Bullous |
|
Amyloidosis |
OMIM:204900 |
Machado-Joseph Disease Type 3 |
|
Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,... |
ORPHA:276244 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Congenital hypoparathyroidism |
OMIM:244460 |
Omenn Syndrome |
|
Recurrent bacterial infections, Hypoplasia of the thymus, Recurrent fungal infections, Recurrent ... |
OMIM:603554 |
Immunodeficiency 67 |
|
Meningitis, Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Woodhouse-Sakati Syndrome |
|
Decreased testicular size, Abnormality of extrapyramidal motor function, Hypogonadotropic hypogon... |
OMIM:241080 |
Chédiak-Higashi Syndrome |
|
Recurrent streptococcal infections, Spastic paraplegia, Recurrent respiratory infections, Tremor,... |
ORPHA:167 |
Lumbar Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... |
ORPHA:83628 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Amyloidosis |
OMIM:204850 |
Pontocerebellar Hypoplasia Type 7 |
|
Clitoral hypertrophy, Spasticity, Involuntary movements, Microphallus, Gonadal dysgenesis, Fascic... |
ORPHA:284339 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in females, Abnormality of the menstrual cyc... |
ORPHA:90794 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Generalized amyloid deposition |
OMIM:105150 |
Poliomyelitis |
|
Fasciculations, Infectious encephalitis, Hyperkinetic movements, Paralysis, Paraparesis, Meningitis |
ORPHA:2912 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Spasticity, Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infectio... |
OMIM:620565 |
Amyotrophic Lateral Sclerosis |
|
Babinski sign, Spasticity, Paralysis, Fasciculations |
ORPHA:803 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Molluscum contagiosum, Severe cytomegalovirus infection, Aplasia of the eccrine sweat glands, Rec... |
OMIM:300291 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:306400 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:619693 |
Woodhouse-Sakati Syndrome |
|
Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimulation test, S... |
ORPHA:3464 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
Vici Syndrome |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Penile hypospadias, Recurrent fung... |
OMIM:242840 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent abscess formation, Recurrent bacterial inf... |
OMIM:608233 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Aplasia of th... |
OMIM:102700 |
Periodic Fever, Familial, Autosomal Dominant |
|
Pleuritis, AA amyloidosis, Hepatic amyloidosis |
OMIM:142680 |
Aa Amyloidosis |
|
Renal amyloidosis, Amyloidosis |
ORPHA:85445 |
Chediak-Higashi Syndrome |
|
Tremor, Recurrent systemic pyogenic infections, Ataxia, Recurrent infections, Recurrent bacterial... |
OMIM:214500 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Irregular menstruation, Recurrent bacterial infections, Menorrhagia, Polycystic ovaries |
ORPHA:79259 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Hypertonia, Cerebral palsy, Fasciculations |
ORPHA:682 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Rift Valley Fever |
|
Severe viral infection, Hemiparesis, Infectious encephalitis, Paralysis, Paraparesis, Decerebrate... |
ORPHA:319251 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Amyloidosis, Cutaneous macular amyloidosis |
OMIM:615225 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Tick-Borne Encephalitis |
|
Tongue fasciculations, Unusual CNS infection, Incoordination, Speech apraxia, Tremor, Hyperkineti... |
ORPHA:297 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paralysis |
OMIM:176000 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis |
ORPHA:684 |
Leukocyte Adhesion Deficiency |
|
Sepsis, Recurrent tonsillitis, Recurrent urinary tract infections, Vaginitis, BCGosis, Recurrent ... |
ORPHA:2968 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic paralysis, Periodic hypokalemic paresis |
ORPHA:37553 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Elevated circulating luteinizing hormone level, Female infertility, Lacrimal gland hypoplasia, St... |
ORPHA:572333 |
Familial Mediterranean Fever |
|
Renal amyloidosis, Pleural effusion, Amyloidosis, Elevated circulating amyloid A concentration, E... |
OMIM:249100 |
Idiopathic Trachyonychia |
|
Amyloidosis |
ORPHA:79153 |
Encephalocraniocutaneous Lipomatosis |
|
Spasticity, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Tetraplegia, Hypertonia |
ORPHA:2396 |
Thyrotoxic Periodic Paralysis |
|
Periodic hypokalemic paresis, Tremor, Respiratory paralysis, Paralysis, Tetraplegia |
ORPHA:79102 |
Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... |
ORPHA:322 |
Oeis Complex |
|
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... |
OMIM:258040 |
Q Fever |
|
Pneumonia, Pleural effusion, Amyloidosis, Increased circulating antibody level, Abnormal pulmonar... |
ORPHA:781 |
Limb-Mammary Syndrome |
|
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... |
ORPHA:69085 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent viral infections, Sepsis, Severe cytomegalovirus infection, Recurrent fungal infections... |
OMIM:619573 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Recurrent bacterial infections |
OMIM:615895 |
Townes-Brocks Syndrome 2 |
|
Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spastic paraplegia, Cholelithiasis, Azoospermia, Limb ataxia, Paralysis, Oculomotor apraxia, Hype... |
ORPHA:2072 |
Shwachman-Diamond Syndrome |
|
Recurrent viral infections, Sepsis, Pancreatic hypoplasia, Decreased response to growth hormone s... |
ORPHA:811 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Aplasia of the uter... |
ORPHA:2237 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia, Bile duct proliferation |
OMIM:203700 |
Acys Amyloidosis |
|
Amyloidosis, Cerebral amyloid angiopathy |
ORPHA:100008 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:300972 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Cutaneous amyloidosis, Recurrent pneumonia, Bronchiectasis |
OMIM:301220 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Pancreatic fibrosis |
OMIM:232220 |
Chromosome 17Q12 Deletion Syndrome |
|
Recurrent urinary tract infections, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia ... |
OMIM:614527 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic paralysis, Periodic hypokalemic paresis |
OMIM:170390 |
African Trypanosomiasis |
|
Involuntary movements, Fasciculations, Abnormality of the menstrual cycle, Abnormal central motor... |
ORPHA:3385 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
Gitelman Syndrome |
|
Paralysis, Ataxia |
OMIM:263800 |
Alzheimer Disease 4 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:606889 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Amyloidosis, Abnormal mast cell morphology |
ORPHA:98849 |
Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Goiter, Sialadenitis, Vocal cord paralysis, Pancreatic fibrosis, Nodular goiter... |
ORPHA:64744 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent infections, Cryptorchidism, Recurrent respiratory infec... |
ORPHA:2273 |
Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:117300 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple |
ORPHA:1521 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... |
OMIM:618280 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... |
OMIM:147060 |
Abeta Amyloidosis, Dutch Type |
|
Cerebral amyloid angiopathy |
ORPHA:100006 |
Lysinuric Protein Intolerance |
|
Recurrent bacterial infections, Decreased response to growth hormone stimulation test |
ORPHA:470 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
Distal Renal Tubular Acidosis |
|
Paralysis |
ORPHA:18 |
Gitelman Syndrome |
|
Paralysis, Neoplasm of the pancreas, Parathyroid adenoma |
ORPHA:358 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Cerebral amyloid angiopathy |
OMIM:176500 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
Pineoblastoma |
|
Pinealoma, Paralysis |
ORPHA:251909 |
Cerebral Amyloid Angiopathy, App-Related |
|
Cerebral amyloid angiopathy |
OMIM:605714 |
Familial Mediterranean Fever |
|
Pleuritis, Amyloidosis |
ORPHA:342 |
Norrie Disease |
|
Uterine rupture, Cryptorchidism, Clonus, Hypertonia, Erectile dysfunction |
ORPHA:649 |
Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Gait ataxia, Cryptorchidism, Aplasia of the uterus, Recurrent respiratory i... |
OMIM:135900 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Pancreatic cysts |
OMIM:274000 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis |
OMIM:259730 |
Tyrosinemia, Type I |
|
Periodic paralysis |
OMIM:276700 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency |
OMIM:130050 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Aplasia of the uterus, Hypospadias, Cryptorchidism |
OMIM:194190 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypoplastic... |
OMIM:276820 |
Alkaptonuria |
|
Amyloidosis |
ORPHA:56 |
Hydrolethalus Syndrome 1 |
|
Bifid uterus, Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology |
OMIM:236680 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa... |
OMIM:107480 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
Okamoto Syndrome |
|
Bifid uterus |
ORPHA:2729 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Pallister-Killian Syndrome |
|
Small scrotum, Supernumerary nipple, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia maj... |
OMIM:601803 |
Vascular Ehlers-Danlos Syndrome |
|
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypospadias |
ORPHA:286 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Aplasia of the sweat glands, Recurrent Staphylococcus aureus infections |
ORPHA:642 |