| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Auditory Neuropathy, Autosomal Dominant 3 |
|
Abnormal speech discrimination, Hearing impairment |
OMIM:619832 |
| Deafness, Autosomal Recessive 1B |
|
Abnormal vestibular function, Hearing impairment |
OMIM:612645 |
| Deafness, Autosomal Recessive 84A |
|
Abnormal vestibular function, Hearing impairment |
OMIM:613391 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Deafness, Autosomal Dominant 65 |
|
Abnormal vestibular function, Progressive hearing impairment |
OMIM:616044 |
| Deafness, Aminoglycoside-Induced |
|
Aminoglycoside-induced hearing loss |
OMIM:580000 |
| Deafness, Autosomal Dominant 17 |
|
High-frequency hearing impairment |
OMIM:603622 |
| Deafness, Autosomal Dominant 7 |
|
High-frequency hearing impairment |
OMIM:601412 |
| Deafness, Autosomal Dominant 2B |
|
High-frequency hearing impairment |
OMIM:612644 |
| Deafness, Autosomal Recessive 91 |
|
Progressive hearing impairment |
OMIM:613453 |
| Deafness, Autosomal Recessive 102 |
|
Profound hearing impairment |
OMIM:615974 |
| Deafness, Autosomal Dominant 18 |
|
Progressive hearing impairment |
OMIM:606012 |
| Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
| Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
| Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
| Deafness, Autosomal Dominant 52 |
|
Hearing impairment |
OMIM:607683 |
| Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
| Deafness, Autosomal Recessive 107 |
|
Hearing impairment |
OMIM:617639 |
| Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
| Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
| Deafness, Autosomal Dominant 89 |
|
Hearing impairment |
OMIM:620284 |
| Deafness, Autosomal Dominant 88 |
|
Hearing impairment |
OMIM:620283 |
| Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
| Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
| Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
| Deafness, Autosomal Dominant 51 |
|
Hearing impairment |
OMIM:613558 |
| Deafness, Autosomal Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
| Deafness, Autosomal Recessive 93 |
|
Hearing impairment |
OMIM:614899 |
| Deafness, Autosomal Recessive 55 |
|
Hearing impairment |
OMIM:609952 |
| Deafness, Autosomal Recessive 47 |
|
Hearing impairment |
OMIM:609946 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
| Facial Paresis, Hereditary Congenital, 2 |
|
Facial palsy, Hearing impairment |
OMIM:604185 |
| Deafness, Autosomal Recessive 25 |
|
Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
| Deafness, Autosomal Recessive 30 |
|
Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
| Usher Syndrome, Type Id |
|
Abnormal vestibular function, Hearing impairment |
OMIM:601067 |
| Deafness, Autosomal Recessive 74 |
|
Hearing impairment |
OMIM:613718 |
| Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
| Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
| Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
| Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Keratoderma, Palmoplantar, With Deafness |
|
Hearing impairment |
OMIM:148350 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
| Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
| Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
| Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
| Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration |
|
Abnormal vestibular function, Hearing impairment |
OMIM:614934 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Fibromatosis, Gingival, 1 |
|
Hearing impairment |
OMIM:135300 |
| Deafness-Oligodontia Syndrome |
|
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment |
ORPHA:3230 |
| Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
| Deafness, Autosomal Recessive 110 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618094 |
| Deafness, Autosomal Dominant 56 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:615629 |
| Deafness, Autosomal Recessive 1A |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:220290 |
| Deafness, Autosomal Dominant 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
| Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
| Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
| Deafness, Autosomal Dominant 20 |
|
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:604717 |
| Deafness, Autosomal Dominant 6 |
|
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment |
OMIM:600965 |
| Deafness, Autosomal Dominant 22 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:606346 |
| Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:221745 |
| Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
| Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
| Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Hearing impairment |
OMIM:120040 |
| Deafness, Autosomal Dominant 78 |
|
Profound sensorineural hearing impairment |
OMIM:619081 |
| Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
| Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
| Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
| Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
| Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
| Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
| Deafness, Autosomal Dominant 40 |
|
Sensorineural hearing impairment |
OMIM:616357 |
| Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
| Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment |
OMIM:618778 |
| Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
| Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
| Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
| Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
| Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
| Deafness, Autosomal Recessive 120 |
|
Sensorineural hearing impairment |
OMIM:620238 |
| Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
| Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
| Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
| Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
| Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
| Deafness, Autosomal Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
| Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
| Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
| Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
| Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
| Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
| Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
| Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
| Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
| Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
| Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
| Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
| Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
| Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
| Deafness, Autosomal Recessive 100 |
|
Sensorineural hearing impairment |
OMIM:618422 |
| Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
| Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
| Deafness, Autosomal Recessive 99 |
|
Sensorineural hearing impairment |
OMIM:618481 |
| Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
| Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
| Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
| Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
| Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
| Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
| Deafness, Autosomal Recessive 31 |
|
Sensorineural hearing impairment |
OMIM:607084 |
| Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
| Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
| Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
| Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
| Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
| Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
| Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
| Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
| Deafness, Autosomal Dominant 53 |
|
Sensorineural hearing impairment |
OMIM:609965 |
| Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
| Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
| Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
| Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
| Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
| Familial Hypofibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:101041 |
| Familial Dysfibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:98881 |
| Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
| 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 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
| 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 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia, Sensorineural hearing impairment |
ORPHA:94064 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
| 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 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypica... |
ORPHA:100973 |
| Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopeni... |
OMIM:619164 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Mucoid diarrhea, Decreased proportion of class-switched memory ... |
OMIM:615767 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| Meniere Disease |
|
Vertigo, Tinnitus, Hearing impairment |
OMIM:156000 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Intrauterine growth retardatio... |
OMIM:620270 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia,... |
OMIM:300635 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytos... |
OMIM:619281 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Low-set ears |
ORPHA:436151 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Chronic lymphocytic meningitis, Recurrent urinary tract infecti... |
OMIM:209920 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
| 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 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasi... |
OMIM:618108 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Aggressive behavior, Bruxism, Spasticity |
ORPHA:356996 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Truncal ataxia,... |
OMIM:608636 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis,... |
OMIM:617638 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
| 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 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms, Short stature |
OMIM:300271 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction |
OMIM:137560 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
| Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... |
ORPHA:911 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Increased CD4:CD8 ratio, Min... |
OMIM:617006 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Short stature |
DECIPHER:8 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
| Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
| 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 |
| 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 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... |
OMIM:609425 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
| Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity, Short stature |
DECIPHER:19 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Short stature, Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repe... |
OMIM:617270 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| 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 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:231200 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm |
OMIM:608653 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells,... |
OMIM:613501 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Feeding difficulties in infancy, Invasive fungal infection, Increased T cell count, Chron... |
ORPHA:98813 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Congenital Factor Xi Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
| Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Short stature, Decreased body weight |
OMIM:616311 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Malabsorption, Recurrent ... |
OMIM:300310 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
| Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Dystonia... |
ORPHA:52368 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... |
OMIM:309548 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... |
ORPHA:90646 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Decreased nerve conduction velocity, ... |
ORPHA:85446 |
| 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 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Immunodeficiency 70 |
|
Furuncle, Celiac disease, Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion o... |
OMIM:618969 |
| Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
OMIM:248510 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Deafness, Autosomal Dominant 86 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus |
OMIM:620280 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, ... |
OMIM:619150 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Torticollis, Ataxia, Vertigo, Vomiting |
ORPHA:71518 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| N-Acetylaspartate Deficiency |
|
Broad-based gait, Short stature, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal r... |
OMIM:614063 |
| Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
| Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... |
OMIM:618394 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
| Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Short stature, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive ... |
OMIM:617862 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... |
OMIM:243700 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Protein-losing e... |
OMIM:613502 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired proprioception, ... |
ORPHA:251282 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Broad-based gait, Short stature, Parkinsonism, Anorexia, Ag... |
ORPHA:3077 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art... |
OMIM:604416 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy |
OMIM:300983 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions |
OMIM:602248 |
| Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... |
ORPHA:849 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Feeding difficulties |
OMIM:620368 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... |
OMIM:614700 |
| Hemophilia B |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Joint hemorrhage, Persistent bleeding after trauma |
OMIM:306900 |
| 7Q31 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Dys... |
ORPHA:251061 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility, Ataxia |
OMIM:613909 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Congenital hypothyroidism |
ORPHA:88643 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Anemia, Colitis, ... |
OMIM:613101 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Recurrent hand flapping, Posteriorly rotated ears, Low-set ears |
OMIM:618147 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia |
OMIM:300928 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,... |
ORPHA:853 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Int... |
OMIM:243150 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cryptorchidism, Chorea, Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behav... |
OMIM:618917 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand... |
OMIM:300624 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Decreased fertility, Fasciculations, Dysphagia, Testicular atrophy |
OMIM:313200 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
| Immunodeficiency 40 |
|
Rectal fistula, Severe varicella zoster infection, Chronic diarrhea, Recurrent pneumonia, Eosinop... |
OMIM:616433 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behav... |
ORPHA:382 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Skin rash, Feeding difficulties in infancy, Thrombocytopenia, Sple... |
OMIM:616050 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetiti... |
OMIM:618718 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
| Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| 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 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Conjun... |
OMIM:612692 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
| Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Eczema, Abscess, Perianal abscess, Lymphadeni... |
OMIM:618935 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu... |
ORPHA:2688 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Malabsorption |
ORPHA:79301 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Recurrent respiratory infections, Skin rash, Abdominal pain, Perianal abscess,... |
OMIM:301074 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hep... |
OMIM:618999 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Macrotia, Stereotypical hand wringing |
ORPHA:397933 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Impaired vibratory sensation, Aganglionic megacolon, Intestinal malrotation,... |
OMIM:243180 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... |
ORPHA:2686 |
| Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence o... |
OMIM:607594 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Inability to walk, Self-injurious behavior, Impaired social interactions, ... |
OMIM:617820 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Spastic tetraparesis, Cryptorchidism, Hemiparesi... |
OMIM:604317 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... |
ORPHA:276 |
| Deafness, Autosomal Dominant 64 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614152 |
| Deafness, Autosomal Dominant 67 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:616340 |
| Deafness, Autosomal Dominant 36 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:606705 |
| Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
| Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
| Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
| Deafness, Y-Linked 1 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:400043 |
| Deafness, Autosomal Dominant 43 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:608394 |
| Deafness, Autosomal Dominant 33 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614211 |
| Deafness, Autosomal Dominant 41 |
|
Progressive sensorineural hearing impairment, Tinnitus |
OMIM:608224 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cerebral palsy, Small for gestational age, Cryptorchidism, Repetitive compulsive b... |
ORPHA:352490 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... |
ORPHA:163976 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
| 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 |
| Deafness, Autosomal Dominant 16 |
|
Adult onset sensorineural hearing impairment, Tinnitus |
OMIM:603964 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
| Foxg1 Syndrome |
|
Dystonia, Short stature, Inability to walk, Choreoathetosis, Severe postnatal growth retardation,... |
ORPHA:561854 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619470 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Villous atrophy, Psoriasiform dermatitis, Decreased proportion of CD4+CD25+ reg... |
OMIM:606367 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Abnormal pinna morphology, Small for gestational age, Failure to t... |
OMIM:614104 |
| Classic Galactosemia |
|
Male infertility, Speech apraxia, Decreased serum insulin-like growth factor 1, Premature ovarian... |
ORPHA:79239 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
| Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
| Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
| Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Tremor, Flexion contracture, Impaired proprioception, Dysmetria, Gait ataxia, Intention tremor, A... |
ORPHA:99027 |
| Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... |
ORPHA:209964 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Anoperineal fistula, Recurrent aphthous ... |
OMIM:613960 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Gastro... |
ORPHA:443811 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
| Immunodeficiency 92 |
|
Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, Leukocytosi... |
OMIM:619652 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Overweight, Tremor, Self-mutilation, Hyper... |
ORPHA:457240 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Bruxism, Feeding difficulties, Choreoathetosis, Growth d... |
OMIM:619422 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Apraxia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic parap... |
OMIM:300055 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Poor coordination, Obsess... |
ORPHA:544254 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Decreased body weight, Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ataxi... |
OMIM:617695 |
| Coffin-Siris Syndrome 8 |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Failure to thrive |
OMIM:618362 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage |
OMIM:605735 |
| Hsd10 Disease |
|
Ataxia, Postnatal growth retardation, Nasogastric tube feeding in infancy, Gastrointestinal dysmo... |
ORPHA:391417 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Sepsis, Tubulointerstitial nephritis, Iron deficiency anemia, Colit... |
ORPHA:37042 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavi... |
OMIM:613670 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo, Ataxia, Nausea |
ORPHA:79136 |
| Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Dystonia, Feeding difficulties, Choreoathetosis, Gastroesophageal reflux, Bruxism, Conductive hea... |
OMIM:618497 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting |
ORPHA:543 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... |
OMIM:613500 |
| 2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Hyperactivity, Short stature, Ataxia, Cryptorchidism, Polyphagia, Growth del... |
ORPHA:228402 |
| Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conj... |
OMIM:240500 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... |
ORPHA:424019 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:605594 |
| Christianson Syndrome |
|
Dystonia, Feeding difficulties in infancy, Truncal ataxia, Gait ataxia, Gastroesophageal reflux, ... |
ORPHA:85278 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spastic dysarthria, ... |
ORPHA:95433 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Gastrointestinal angiodysplasia, Me... |
ORPHA:99147 |
| Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Short stature, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Low-set ears, Overfol... |
OMIM:619092 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Splenomegaly, Chronic diarrhea, Recurrent upper respiratory tract infecti... |
OMIM:616005 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi... |
OMIM:301107 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Neutrope... |
OMIM:601495 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... |
OMIM:608184 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
| Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Recurrent respiratory infec... |
OMIM:618131 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Meningitis, Recurrent pneumonia, Decreased mean platelet volume, Bloody diarrhea, Hema... |
OMIM:617718 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Decreased re... |
OMIM:307200 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... |
ORPHA:183675 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Hypospadias, Abnormal pinna morphology, Aggressive behavior, Tremor, Cryptorchidis... |
OMIM:300354 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Esophageal stricture, Cheilitis... |
OMIM:615468 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,... |
ORPHA:99828 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Short stature, Shyness, Overweight, Babinski sign, Spastic dysarthria, Difficulty ... |
ORPHA:280763 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Purpura, Ataxia, Epistaxis, Anorexia, Malabsorption, Periorbital ede... |
ORPHA:33226 |
| Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Eosinophilia, Autoimmune thrombocytopenia, Recurrent viral infections, Decreased... |
ORPHA:169154 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
| Kennedy Disease |
|
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... |
ORPHA:481 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
| Baker-Gordon Syndrome |
|
Ataxia, Feeding difficulties, Choreoathetosis, EEG abnormality, Self-injurious behavior, Gastroes... |
OMIM:618218 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Ataxia, Optic atrophy, Abnormal auditory evoked pot... |
OMIM:125250 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... |
ORPHA:240103 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasti... |
OMIM:615924 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ... |
OMIM:620021 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vomiting,... |
ORPHA:79319 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Tongue atrophy, Somatic sensor... |
ORPHA:101085 |
| Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... |
ORPHA:263665 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas... |
OMIM:601455 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
| Ogden Syndrome |
|
Abnormal head movements, Inguinal hernia, Torticollis, Postnatal growth retardation, High, narrow... |
ORPHA:276432 |
| Huntington Disease-Like 1 |
|
Restlessness, Abnormal head movements, Incoordination, Involuntary movements, Chorea, Slurred spe... |
ORPHA:157941 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Short stature, Aggressive behavior, Tremor, Sensorineural hearing impairment, Prot... |
OMIM:618342 |
| Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... |
ORPHA:248111 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Growth delay, Choreoathetosis, Dystonia, Ocul... |
OMIM:612716 |
| 48,Xxyy Syndrome |
|
Hypoplasia of penis, Hypergonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Obesity, Azo... |
ORPHA:10 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Intrauterine growth retardation |
OMIM:615282 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
| Vestibulocochlear Dysfunction, Progressive |
|
Vestibular areflexia, Tinnitus, Progressive hearing impairment |
OMIM:193005 |
| 8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
| Complement Component 5 Deficiency |
|
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Feeding difficulties, Gastroesophageal reflux, Attention defi... |
OMIM:620292 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, Macrotia, Abnormal repetiti... |
OMIM:618504 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia, Eosinophili... |
ORPHA:331206 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... |
OMIM:175500 |
| Xq28 (MECP2) duplication |
|
Feeding difficulties in infancy, Gait ataxia, Constipation, Gastroesophageal reflux, Dysphagia, M... |
DECIPHER:45 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Short stature, Impaired pain sensation, Abnormal repetitive mannerisms, Velopharyn... |
OMIM:182290 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Impulsivity, Uplifted earlobe |
OMIM:300143 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Broad-based gait, Hyperactivity, Aggressive behavior, Precocious puberty, Spasticity, Hearing imp... |
ORPHA:457260 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Hypsarrhythmia, Hearing impairment |
OMIM:619877 |
| Apert Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... |
ORPHA:87 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... |
ORPHA:206443 |
| Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Short stature, High, narrow palate, Cleft palate, Gastroesophageal refl... |
OMIM:617808 |
| Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
| Esophagitis, Eosinophilic, 2 |
|
Vomiting, Eosinophilia, Esophagitis, Dysphagia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Vomiting, Eosinophilia, Esophagitis, Dysphagia |
OMIM:610247 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... |
OMIM:613493 |
| Alazami-Yuan Syndrome |
|
Cryptorchidism, Hyperactivity, Short stature |
OMIM:617126 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Esophageal stenosis, Colitis |
OMIM:615190 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... |
OMIM:609136 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Short stature, Abdominal pain, High, narrow palat... |
ORPHA:79076 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Edema, Malabsorption, Abdominal pain, Diarrhea, Steato... |
ORPHA:2070 |
| Typhoid |
|
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Constipation, A... |
ORPHA:99745 |
| Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Sepsis, Iron deficiency anemia, Inflammation of the large intestine, Absent mic... |
OMIM:301000 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombo... |
ORPHA:391487 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Jeavons Syndrome |
|
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... |
ORPHA:139431 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea |
OMIM:616939 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Anemia, T lymphocytopenia, Recurrent bacterial infections, B lymphocy... |
ORPHA:169079 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia |
OMIM:617341 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis |
OMIM:614602 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Parkinsonism, Fa... |
OMIM:157640 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
| Shigellosis |
|
Anorexia, Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivit... |
ORPHA:810 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myeloid leukemia |
ORPHA:48104 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Volvulus, Gastrointestinal infarctions |
ORPHA:1059 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Short stature, Small for gestational age, Postnatal growth retardation, Congenital... |
ORPHA:73272 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Ataxia, Malabsorption, Feeding difficulties in infancy, Sensorineura... |
ORPHA:3463 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Incoordination, Somatic sensory dysfunction, Aggressive behavior, Paralysis, Parap... |
ORPHA:43 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... |
ORPHA:309246 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... |
ORPHA:464321 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Short stature, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Abnorma... |
OMIM:610883 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Splenomegaly, Chronic diarrhea, Esophageal varix, Recurrent infections, Hypohidrosi... |
OMIM:614576 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Precocious puberty, Crypto... |
ORPHA:3306 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
| Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Hypospadias, Abnormal pinna morphology, Small for gestational ag... |
OMIM:123450 |
| Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:187900 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... |
OMIM:616100 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Hypospadias, Ataxia, Rigidity, Cryptorchidism, Repetit... |
OMIM:300260 |
| Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Ankle clonus, Bradykinesia, Hy... |
OMIM:617435 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
| Morm Syndrome |
|
Hyperactivity, Truncal obesity, Micropenis, Aggressive behavior |
ORPHA:75858 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F... |
ORPHA:2137 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Short stature, Increased nuchal translucency, Pica, EEG abnormality, Fetal intraventricular hemor... |
OMIM:618480 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Hyperactivity, Aggressive behavior, Cryptorchidism, Chorea, Unsteady gait,... |
ORPHA:485350 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Gastrointestinal dysmotility... |
ORPHA:67 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Precocious puberty, Decreased body weight, ... |
OMIM:300958 |
| Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Hyperactivity, Short stature, Aggressive behavior, Abnormal repetitive manner... |
OMIM:600430 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to ... |
ORPHA:500180 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Ankle flexion contracture, Bilateral conductive hearing impairment, Interictal epileptiform activ... |
OMIM:617802 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... |
ORPHA:324964 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting |
OMIM:616809 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
| Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:616341 |
| Hereditary Mixed Polyposis Syndrome |
|
Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... |
ORPHA:157794 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, High, narrow palate, Sensorineural hearing impairment, Head-banging, Feeding diffi... |
OMIM:619575 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Vasculitis, Perito... |
ORPHA:343 |
| Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Splenomegaly, Diar... |
OMIM:603554 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe, Abnormal ... |
ORPHA:411986 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... |
ORPHA:329971 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Posteriorly rotated ears, Ataxia, Spastic te... |
OMIM:618598 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Throm... |
OMIM:617053 |
| Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Inguinal hernia, Flexion contracture of finger, Shoulder flexion contracture, Ab... |
OMIM:193700 |
| Temple Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ... |
ORPHA:254516 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Small scrotum, Cryptorchidism, Spasticity, Gait ataxia, Microphallus, Micropenis, ... |
OMIM:300486 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Pain insensitivity, Telangi... |
ORPHA:679 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Lymphadenitis, Leukocytosis, Chronic diarrhea, Splenomegaly, Hematochezia... |
OMIM:615895 |
| Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Ataxia, Diabetes insipidus, Tremor, Hypothyroidism, Sensorineural hearing impa... |
OMIM:222300 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Asymmetry of the ears, Bilateral cryptorchidism, Crypto... |
OMIM:617796 |
| Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemi... |
ORPHA:774 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Car... |
ORPHA:1215 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms, Joint contracture, Gastroesophageal reflux, Feeding difficulties |
OMIM:617393 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity, Sensorineural hearing impairment |
OMIM:609924 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Restlessness, Hyperactivity, Incoordination, Ataxia, Hearing impairment, Aggressive behavior, Cry... |
ORPHA:369891 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... |
OMIM:619381 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Macrotia, Abnormal repetitiv... |
ORPHA:391307 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Tetraplegia, Growth delay, Hypertonia, Failure to thrive |
OMIM:274270 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Edema, Abdominal distention, Diarrhea, Protein-losing enteropathy, Decreased liver function, Vomi... |
OMIM:608104 |
| Optic Atrophy 11 |
|
Hyperactivity, Decreased sensory nerve conduction velocity, Short stature, Ataxia, Optic nerve hy... |
OMIM:617302 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Impaired pain sensation, Cryptorchidism, Obesity, Chronic otitis media, Failure to... |
ORPHA:412035 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea,... |
ORPHA:90038 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Edema, Vertigo, Diarrhea, Intracranial hemorrhage, Self-i... |
ORPHA:324636 |
| Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Spasticity, Gait ataxia, Myoclonus, Intrauterine growth retardation, Crouch gait, ... |
OMIM:620145 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu... |
OMIM:193670 |
| 4Q21 Microdeletion Syndrome |
|
Tremor, Growth delay, Self-injurious behavior, Low-set ears, Intrauterine growth retardation, Abn... |
ORPHA:238750 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal pyramidal sign, Optic atrophy, Tetraplegia, Failure ... |
ORPHA:369939 |
| Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100082 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... |
ORPHA:85450 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... |
ORPHA:793 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility |
ORPHA:230839 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Impaired vibratory sensation, Hiatus hernia, Impaired proprioception, Hernia, Abnormal rectum mor... |
ORPHA:101009 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Chronic mucocut... |
OMIM:147060 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619690 |
| Fg Syndrome 3 |
|
Hyperactivity, Cryptorchidism, Sensorineural hearing impairment |
OMIM:300406 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Acholic st... |
ORPHA:1414 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Recurr... |
OMIM:615286 |
| Coffin-Siris Syndrome 7 |
|
Hyperactivity, Posteriorly rotated ears, Short stature, Polyhydramnios, Severe temper tantrums, O... |
OMIM:618027 |
| Distal Deletion 10Q |
|
Aggressive behavior, Congenital sensorineural hearing impairment, Cochlear malformation, Protrudi... |
ORPHA:96148 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Poor appetite, Abdominal pain, Diarrhea, Melena, ... |
ORPHA:319218 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Hypohidrosis, Colitis |
OMIM:301220 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Recurrent infections |
OMIM:606445 |
| Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Chorea, Feeding difficulties, High palate, Low-set ears, Bruxism, Continuous ... |
OMIM:620149 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Low-set ears |
OMIM:601163 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Aganglionic megacolon, Short stature, Aggressive behavior, Feeding difficu... |
OMIM:300352 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Growth de... |
OMIM:608800 |
| Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia |
OMIM:612069 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Hyperactivity, Posteriorly rotated ears, Clonus, Aggressive behavior, Unsteady gait, Babinski sig... |
OMIM:617773 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Hyperthyroidism, Aggressive behavior, Abnormal repetitive mannerisms, Hypertension... |
ORPHA:449291 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
| Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... |
ORPHA:228360 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chro... |
OMIM:619858 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Chronic otitis media |
OMIM:300991 |
| Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Cryptorchidism, Chorea, Athetosis, Dysphagia, Micropeni... |
OMIM:619435 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Tongue thrusting, Gait ataxia, Choreoathetosis, Opistho... |
OMIM:619580 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... |
OMIM:616881 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
| Sandifer Syndrome |
|
Abnormal head movements, Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroeso... |
ORPHA:71272 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Short stature, Postnatal growth retardation, Sensorineural hearing impairment, Int... |
OMIM:608747 |
| Alazami Syndrome |
|
Abnormal eating behavior, Postnatal growth retardation, Low-set ears, Abnormal repetitive manneri... |
ORPHA:319671 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Failure to thrive, Hyperactivity, Pain insensitivity, Aggressive behavior, Cryptorc... |
OMIM:300534 |
| Sepsis In Premature Infants |
|
Neonatal sepsis, Disseminated viral infection, Abdominal distention, Gastrointestinal dysmotility... |
ORPHA:90051 |
| Ck Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Slender build, Aggressive behavior |
OMIM:300831 |
| Obesity Due To Sim1 Deficiency |
|
Short stature, Feeding difficulties, Abnormal autonomic nervous system physiology, Hypotension, A... |
ORPHA:369873 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... |
ORPHA:51636 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, ... |
OMIM:617807 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Ataxia, Postnatal gr... |
OMIM:616113 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Hyperactivity, Decreased circulating cortisol level, Ataxia, Spastic tetra... |
ORPHA:139396 |
| Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Gastropares... |
ORPHA:85443 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Ataxia, Anorexia, Abdominal pain, Myocardial infarctio... |
ORPHA:3452 |
| Alg6-Cdg |
|
Ataxia, Feeding difficulties, Macroglossia, Protein-losing enteropathy, Low-set ears |
ORPHA:79320 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Abdominal pain, Anorexia, Malabsorption, Diarrh... |
ORPHA:98850 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Lobulated tongue, Abnormal repetitive mannerisms, Low-set ears, Feeding difficulties |
OMIM:613443 |
| Nipah Virus Disease |
|
Nausea and vomiting, Anorexia, Tremor, Vertigo, Hypotension |
ORPHA:99825 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Aggressive behavior, Clumsiness, Agitation, Macrotia |
OMIM:300558 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... |
ORPHA:90308 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, ... |
ORPHA:453533 |
| Meningococcal Meningitis |
|
Shock, Papilledema, Purpura, Projectile vomiting, Anorexia, Paresthesia, Hypotension, Petechiae, ... |
ORPHA:33475 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Bruxism, Hearing impairment |
OMIM:616351 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Pyloric stenosis, Sensorineural hearing impairment, Cleft palate... |
ORPHA:261197 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Short stature, Ataxia, Abnormal auditory evoked potentials, Sensorineural hear... |
OMIM:619260 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Sensorineural hearing impairment, Small bowel diverticula, Fat malabsorption, Jejuno... |
OMIM:221400 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Posteriorly rotated ears, Feeding difficulties, Low-set ears, Dysphagia, Meckel diverticulum, Poo... |
ORPHA:163961 |
| Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Inability to walk, Opisthotonus, Gait ataxia, Inappropriate l... |
OMIM:103050 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Large e... |
OMIM:305400 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Ataxia, Aggressive behavior, Postnatal growth retardation, Abnormal repetitive man... |
OMIM:300912 |
| Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Abnormal optic disc morphology, Low-set ... |
OMIM:617516 |
| Gorham-Stout Disease |
|
Torticollis, Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Impaired pain sensation, Feeding difficulties, Gait ataxia, High palate, Gastroesophageal reflux,... |
OMIM:616579 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ... |
ORPHA:64743 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Poor coordination, Obesity,... |
OMIM:618430 |
| Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Hemiparesis, Self-injurious behavior, B... |
OMIM:618004 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Aplasia of the thymus, Pneumonia, Skin rash, Sev... |
OMIM:102700 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Anhidrosis, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent myco... |
ORPHA:169090 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Decreased response to growth hormone stimulation test, Dilatated intern... |
ORPHA:1435 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Secretory diarrhea, Feeding difficulties, Hematochezia, Ana... |
OMIM:618183 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Diarrhea, Vestibular areflexia, Growth dela... |
ORPHA:3240 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i... |
ORPHA:906 |
| Infant Botulism |
|
Cardiac arrest, Anorexia, Abdominal pain, Bowel incontinence, Xerostomia, Hypertension, Constipat... |
ORPHA:178478 |
| Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Diarr... |
ORPHA:449285 |
| 3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Ataxia, Postnatal growth retardation, Cryptorchidism, Nonprogressive cerebellar atax... |
OMIM:610198 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Skin rash, Thrombocytopenia, Splenomegaly, Neutropenia, Colitis, Decreas... |
ORPHA:540 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Epistaxis, Abdominal pain, Conges... |
ORPHA:727 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Papilledema, Ataxia, Abdominal pain, Diarrhea, Adenomatous colonic polyposi... |
ORPHA:99818 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Congenital sens... |
ORPHA:500159 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior, Obesity, Large earlobe, Low-set ears |
OMIM:617752 |
| Metachromatic Leukodystrophy |
|
Dystonia, Ataxia, Bowel incontinence, Abnormal stomach morphology, Decreased nerve conduction vel... |
ORPHA:512 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Mild postnatal growth retardation, Ataxia, Abnormal temper tantrums, Abnormal soci... |
ORPHA:530983 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, High palate, Abnormal auditory evoked potentials |
OMIM:617523 |
| Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... |
ORPHA:397612 |
| Crouzon Syndrome |
|
Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment |
ORPHA:207 |
| Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Abdominal pain, Malabsorption, Growth delay, Ascites |
ORPHA:100025 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Nasogastric ... |
ORPHA:206436 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Attention deficit hyperactivity d... |
OMIM:620141 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Flexion contracture, Abnormality of the ear, Feeding difficulties... |
ORPHA:391372 |
| Glycogen Storage Disease Ib |
|
Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout, Recurrent bacterial infections, Inflammatio... |
OMIM:232220 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Foot joint contracture, Scarring, Ataxia, Postnatal growth r... |
ORPHA:90321 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting |
OMIM:142680 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Postnatal growth retardation... |
ORPHA:397590 |
| 16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test, Bilateral cryp... |
ORPHA:485405 |
| Rett Syndrome, Congenital Variant |
|
Dystonia, Chorea, Tongue thrusting, Feeding difficulties, Protruding ear, Athetosis, EEG abnormal... |
OMIM:613454 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... |
ORPHA:811 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Aggressive behavior, Optic atrophy, Narrow palate, Feeding diff... |
ORPHA:313892 |
| Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, High, narrow palate, Large earlobe, High palate... |
OMIM:619312 |
| Lesch-Nyhan Syndrome |
|
Dystonia, Short stature, Opisthotonus, Choreoathetosis, Self-injurious behavior, Abnormality of e... |
OMIM:300322 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Short stature, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, ... |
OMIM:620023 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Abdominal pain, Vasculitis, Gastrointestinal infarctions, Petechiae,... |
ORPHA:91138 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Ecz... |
OMIM:615816 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Feeding difficulties, Choreoathetosis, Dystoni... |
OMIM:245348 |
| Blue Rubber Bleb Nevus |
|
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception |
OMIM:112200 |
| Huntington Disease-Like 3 |
|
Abnormal head movements, Bowel incontinence, Chorea, Flexion contracture, Progressive gait ataxia... |
ORPHA:157946 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Pneumocystis carinii pneumonia, Splenomegaly, Diarrhea, Neutropenia, Hepatitis,... |
OMIM:308230 |
| Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Palpebral edema, Feeding difficulties, Protruding ear, Macroglossia, Abnormal antihelix morpholog... |
ORPHA:261144 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Sensorineural hearing impairment, Failure to ... |
OMIM:615824 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Monosomy 13Q34 |
|
Posteriorly rotated ears, Epistaxis, Abnormal earlobe morphology, Hematochezia, Growth delay, Pro... |
ORPHA:96168 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Precocious puberty, Tremor, Inability to walk, Opti... |
ORPHA:845 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Synotia, Narrow internal auditory canal, ... |
ORPHA:990 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
| 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 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C... |
OMIM:617044 |
| Hydroxykynureninuria |
|
Tachycardia, Congenital sensorineural hearing impairment, Hypotension, Stomatitis, Abnormal repet... |
ORPHA:79155 |
| Galloway-Mowat Syndrome 6 |
|
Short stature, Decreased response to growth hormone stimulation test, Hypothyroidism, Growth dela... |
OMIM:618347 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Feeding difficulties in infancy, Sensorineural hearing impairment, Low-set ears, R... |
OMIM:617751 |
| Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ... |
ORPHA:144 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Tremor, Feeding difficulties, Chronic constipation, Self... |
OMIM:617061 |
| Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ... |
OMIM:619317 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, EEG with focal spike waves, Posteriorly rotated ears, Ataxia, Tremor, Multif... |
OMIM:619229 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h... |
ORPHA:401777 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Tremor, Cryptorchidism, Limb hypertonia, Fasciculations, Hearing im... |
OMIM:620327 |
| Coffin-Siris Syndrome 2 |
|
Cryptorchidism, Hyperactivity, Abnormal pinna morphology, Hearing impairment |
OMIM:614607 |
| Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Feeding difficulties, High palate, Low-set ears, Pulmonic stenosis, Attention de... |
OMIM:618205 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Hypospadias, Posteriorly rotated ears, Cryptorchidism, Low-set ears, Labial hypoplasia, Attention... |
OMIM:619293 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Hyperactivity, Broad-based gait, Cachexia, Aggressive behavior, Tremor, Abno... |
ORPHA:85293 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Feeding difficulties in infancy, Di... |
OMIM:608643 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism... |
OMIM:614613 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Hypotension |
ORPHA:79456 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Microtia, Dystonia, Fa... |
OMIM:616977 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Macrotia, Chorea, Spasti... |
OMIM:617864 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Short stature, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia, Ov... |
OMIM:617101 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions, Vomiti... |
ORPHA:544482 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatiti... |
OMIM:308240 |
| New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... |
ORPHA:363558 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... |
OMIM:619708 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abdominal pain, Pustule, Diarrhe... |
ORPHA:29207 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Recurrent viral infect... |
OMIM:618048 |
| 3P25.3 Microdeletion Syndrome |
|
Ataxia, High, narrow palate, Sensorineural hearing impairment, Pyloric stenosis, Abnormal repetit... |
ORPHA:435638 |
| Bilateral Generalized Polymicrogyria |
|
Short stature, Oculogyric crisis, Oral-pharyngeal dysphagia, Feeding difficulties, Growth delay, ... |
ORPHA:208447 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Pneumonia, Pure red c... |
OMIM:613179 |
| Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... |
ORPHA:3261 |
| Chromosome 5Q12 Deletion Syndrome |
|
Posteriorly rotated ears, Postnatal growth retardation, Increased nuchal translucency, Macrogloss... |
OMIM:615668 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Recurrent viral infections, Secretory diarrhea, Sepsis, Decr... |
OMIM:619573 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:306400 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi... |
ORPHA:440437 |
| 22Q11.2 Duplication Syndrome |
|
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... |
ORPHA:1727 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... |
OMIM:617600 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy |
OMIM:160900 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... |
OMIM:177850 |
| 20Q13.33 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Prominent crus of helix, Growth delay, Hematochezia, Oligohydr... |
ORPHA:261311 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms, Recurrent otitis media, Chronic otitis media |
OMIM:612444 |
| Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Hyperactivity, Hypospadias, Decreased response to growth hormone stimulation t... |
ORPHA:363528 |
| Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Hypospadias, Aggressive behavior, Cryptorchidism, Obesity, Compulsive ... |
OMIM:610253 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
| Fg Syndrome Type 1 |
|
Inguinal hernia, Progressive flexion contractures, Optic nerve hypoplasia, Abnormal large intesti... |
ORPHA:93932 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Sensorineural hearing impairment, Impaired vibratory sensation |
OMIM:609727 |
| Mednik Syndrome |
|
Jejunal atresia, Sensorineural hearing impairment, Diarrhea, Growth delay, Neonatal death, Volvul... |
OMIM:609313 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Short stature, Aggressive behavior, Prominent crus of helix, Pos... |
OMIM:619695 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... |
OMIM:618825 |
| Noonan Syndrome |
|
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... |
ORPHA:648 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Saethre-Chotzen Syndrome |
|
Prominent crus of helix, Cryptorchidism, External ear malformation, Sensorineural hearing impairm... |
ORPHA:794 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Sepsis, Hepa... |
OMIM:612840 |
| Smith-Magenis Syndrome |
|
Short stature, Impaired pain sensation, Feeding difficulties in infancy, Abnormal repetitive mann... |
ORPHA:819 |
| Distal Xq28 Microduplication Syndrome |
|
Short stature, Epistaxis, Predominantly lower limb lymphedema, Aggressive behavior, Impulsivity, ... |
ORPHA:293939 |
| White-Sutton Syndrome |
|
Ventral hernia, Abnormality of the gastrointestinal tract, Inguinal hernia, Hyperactivity, Poster... |
ORPHA:468678 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Short stature, Edema, Polyhydramnios, ... |
ORPHA:363705 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Neutropenia, Hepatosplenomegal... |
OMIM:608233 |
| Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... |
OMIM:301029 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Postnatal growth retardation, Poor coordination, Poor fine mo... |
OMIM:620242 |
| White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Tics, Abnormal repetitive ... |
OMIM:616364 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis, Polycys... |
ORPHA:79259 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Tetraparesis, Shawl scrotum |
ORPHA:85277 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Chorea, Elevated circulating thyroid-stimulating hormone concentration, Abnor... |
ORPHA:209905 |
| Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Short stature, Abnormal pinna morphology, Proportionate short stature, Feeding difficulties, Grow... |
OMIM:612337 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Psoriasiform dermatitis, Recurrent ear infections, Recurrent ... |
ORPHA:221139 |
| Phelan-Mcdermid Syndrome |
|
Palpebral edema, Impaired pain sensation, Lymphedema, Abnormal repetitive mannerisms, Aggressive ... |
OMIM:606232 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Hypospadias, Cryptorchidism, Head-banging, Low-set ears, Attention deficit hyperactivity disorder... |
OMIM:619103 |
| Warsaw Breakage Syndrome |
|
Postnatal growth retardation, Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, High pa... |
OMIM:613398 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Glomerulonephritis, Autoimmune ... |
OMIM:613496 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia |
ORPHA:331 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Megalocornea-Intellectual Disability Syndrome |
|
Short stature, Ataxia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Protrudi... |
ORPHA:2479 |
| Syndromic Diarrhea |
|
Lymphopenia, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Bloody dia... |
ORPHA:84064 |
| Kilquist Syndrome |
|
Intestinal malrotation, Midgut malrotation, Xerostomia, Feeding difficulties, Chronic constipatio... |
OMIM:619080 |
| Tarp Syndrome |
|
Posteriorly rotated ears, Optic atrophy, Subdural hemorrhage, Cleft palate, Tongue nodules, Promi... |
OMIM:311900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, Compulsive behaviors, Impaired social interactions, Macroorch... |
OMIM:309520 |
| Hijazi-Reis Syndrome |
|
Postnatal growth retardation, Chronic constipation, Gastroesophageal reflux, Abnormal repetitive ... |
OMIM:301094 |
| 19P13.3 Microduplication Syndrome |
|
Hyperactivity, Unilateral cryptorchidism, Posteriorly rotated ears, Precocious puberty, Self-inju... |
ORPHA:447980 |
| Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicc... |
ORPHA:309031 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm... |
OMIM:616393 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
| Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Hypoplasia of penis, Ataxia, Bilateral cryptorchidism, Repetitive compulsi... |
ORPHA:66634 |
| Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Tricuspid regurgitation, Poor appetite, Anorexia, Hematemesis, Bowel urgency... |
ORPHA:100075 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Perianal ab... |
OMIM:612541 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Optic disc pallor, Tachycardia, Dysphagia, Hyperhidrosis, Tube feedin... |
ORPHA:79264 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Gastritis, Myocarditis, Xeros... |
ORPHA:809 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Elbow contracture, Short stature, Cleft palate, Feeding difficulties, Compulsive behavior... |
OMIM:615656 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
| Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Meningitis,... |
ORPHA:36412 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dystonia, Ataxia, Bowel incontinence, Polyhydramnios, Optic atrophy, Feeding difficulties, Growth... |
ORPHA:496641 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Ataxia, Short stature, Postnatal growth retardation, Sensorineural ... |
ORPHA:96180 |
| Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Polycystic ovaries, F... |
ORPHA:2176 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Hypospadias, Precocious puberty, Cryptorchidism, External ear malformation, Sensor... |
ORPHA:254346 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Joint con... |
OMIM:618914 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Pustule, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
| Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Meconium ileus, Ma... |
ORPHA:586 |
| Charge Syndrome |
|
Low-set, posteriorly rotated ears, Facial palsy, External ear malformation, Abnormality of the in... |
ORPHA:138 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Mild postnatal growth retardation, Nonimmune hydrops fetalis, Lymphedema, Periorbi... |
OMIM:235510 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
| Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Precocious puberty in females, Ataxia, Aggressive behavior, Trem... |
ORPHA:72 |
| Norrie Disease |
|
Failure to thrive, Diabetes mellitus, Clonus, Cachexia, Cryptorchidism, Sensorineural hearing imp... |
ORPHA:649 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia |
OMIM:606843 |
| Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100080 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Generalized edema, Pulmonary edema, Edema, Polyhydramnios, S... |
ORPHA:79330 |
| Kleefstra Syndrome |
|
Short stature, Bowel incontinence, Aggressive behavior, Pyloric stenosis, Self-mutilation, Macrog... |
ORPHA:261494 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... |
OMIM:617865 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Impaired social interactions, Attention deficit hyper... |
OMIM:610042 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonar... |
ORPHA:900 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Hypohidrosis, Recurrent infections, Recurrent bacterial infections, ... |
OMIM:612783 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Aggressive behavior, Precocious pub... |
ORPHA:163681 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Short stature, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia, Self-mut... |
ORPHA:52503 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Optic atrophy, Intra... |
ORPHA:394 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... |
ORPHA:98794 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spasti... |
OMIM:617281 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Ataxia, Abdominal pain, Sensorineural hearing impairment, Ileus, Hypohidro... |
ORPHA:163746 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... |
ORPHA:247815 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neutrophilia, Abdominal pain, Le... |
ORPHA:3260 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Ataxia, Hypsarrhythmia, Growth delay, Chronic constipa... |
OMIM:619428 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Immotile sperm, Recurrent o... |
OMIM:614874 |
| Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol ... |
ORPHA:199299 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... |
ORPHA:424016 |
| Behçet Disease |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Nausea and vomiting, Pericarditis, Ataxia, Ano... |
ORPHA:117 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Macrotia, Babinski sign, Prominent antihelix, Hypertonia, Inappropriate laughter, Spasticity, Fai... |
OMIM:615802 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Anhidrosis, Abnormal pinna morphology, Atax... |
OMIM:216400 |
| Postinfectious Vasculitis |
|
Anorexia, Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal infla... |
ORPHA:48435 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, High, narrow palate, Nasogastric tube feeding in infancy, Multifocal epilepti... |
ORPHA:369837 |
| Transketolase Deficiency |
|
Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C... |
ORPHA:488618 |
| Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r... |
OMIM:613174 |
| 22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Feeding difficulties in infancy, Anorectal anomaly, Gastroesophageal reflux, Cond... |
ORPHA:567 |
| 2Q37 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Pyloric stenosis, Compulsive behaviors, Attention... |
ORPHA:1001 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Speech apraxia, Hyperactivity, Cryptorchidism, Hypoplastic nipples, Macrotia |
OMIM:618505 |
| Chromosome 10Q26 Deletion Syndrome |
|
Hyperactivity, Small scrotum, Small for gestational age, Broad-based gait, Aggressive behavior, C... |
OMIM:609625 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Camptodactyly of finger, Short stature, Abdominal pain, Optic atrophy... |
ORPHA:2135 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Dystonia, Optic nerve hypoplasia, Feeding difficulties in infancy, P... |
ORPHA:300570 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting |
OMIM:615863 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Ataxia, Decreased response to growth hormone stimulation... |
OMIM:601853 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Anhidrosis, Severe short stature, Abnormal pinna morphology,... |
OMIM:133540 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Feeding difficulties in infancy, Paroxysmal atr... |
ORPHA:3282 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, Hig... |
ORPHA:457279 |
| Isotretinoin-Like Syndrome |
|
Inguinal hernia, Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear, Cleft palate,... |
ORPHA:2306 |
| Vipoma |
|
Nausea and vomiting, Anorexia, Malabsorption, Poor appetite, Elevated circulating growth hormone ... |
ORPHA:97282 |
| Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Short stature, Aggressive behavior, Feeding difficulties, Chronic constipation, Self-inju... |
OMIM:300986 |
| Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97278 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Recurrent otitis media |
OMIM:618948 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
| Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Bowel incontinence, Dysesthesia, Dysmetria, Gait ataxia, Hypertension, Abnormal autonomic... |
ORPHA:93256 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:617527 |
| Glycogen Storage Disease Ic |
|
Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Recurrent upper respiratory tract infection... |
OMIM:232240 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Short stature, Protruding tongue, Postnatal growth retardation, Aggress... |
OMIM:212066 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Dysmetria, Growth delay, Facial diplegia, Attention deficit hyperactivity di... |
OMIM:619121 |
| Oculoskeletodental Syndrome |
|
Short stature, Elbow flexion contracture, Lacunar stroke, Macroglossia, Protein-losing enteropath... |
OMIM:618440 |
| Plague |
|
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Lymphadenitis, Erythema nodosum, D... |
ORPHA:707 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
| Cystinosis |
|
Short stature, Portal hypertension, Malabsorption, Abnormal repetitive mannerisms, Dehydration, V... |
ORPHA:213 |
| Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morph... |
ORPHA:90291 |
| Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Broad-based gait, Abnormal repetitive mannerisms |
OMIM:618067 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Polydipsia, Portal hypertension, Esophageal vari... |
ORPHA:731 |
| Trichothiodystrophy 3, Photosensitive |
|
Short stature, Pyloric stenosis, Feeding difficulties, Low-set ears, Intrauterine growth retardat... |
OMIM:616395 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
OMIM:252920 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux |
OMIM:201475 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption, Hepatic failure, Prolonged prothrombin time |
OMIM:214950 |
| Grfoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Episodic abdominal pai... |
ORPHA:97261 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Clonus, Optic atrophy, Hypertonia, Low-set ears, Dysphagia |
OMIM:617301 |
| Rett Syndrome |
|
Dystonia, Short stature, Bruxism, Gait ataxia, EEG abnormality, Constipation, Gastroesophageal re... |
OMIM:312750 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
| Graft Versus Host Disease |
|
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... |
ORPHA:39812 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma... |
ORPHA:537 |
| 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 |
| Bainbridge-Ropers Syndrome |
|
Posteriorly rotated ears, Intestinal malrotation, Polyhydramnios, Feeding difficulties, Growth de... |
OMIM:615485 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... |
ORPHA:913 |
| Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Pharyngeal edema, Abdominal pain, Abnormal soft palate morphology... |
ORPHA:100050 |
| Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
| Poliomyelitis |
|
Anorexia, Abnormal motor nerve conduction velocity, Paralytic ileus, Hypertension, Hypovolemic sh... |
ORPHA:2912 |
| Rett Syndrome |
|
Dystonia, Limb apraxia, Inability to walk, Bradykinesia, Agitation, Gait disturbance, Increased s... |
ORPHA:778 |
| Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Incoordination, Facial palsy, Anorexia, Paralysis, T... |
ORPHA:297 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Recurrent bacterial infections, Absent circulating B cells, Eczematoid der... |
OMIM:619693 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| 7Q11.23 Microduplication Syndrome |
|
Dysmetria, Abnormal optic disc morphology, Chronic otitis media, Abnormal repetitive mannerisms, ... |
ORPHA:96121 |
| Cat Eye Syndrome |
|
Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Rectal atresia, Volvulus, C... |
OMIM:115470 |
| Alexander Disease |
|
Nausea and vomiting, Ataxia, Facial palsy, Sudden cardiac death, Bowel incontinence, Tremor, Chor... |
ORPHA:58 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Ataxia, Abdominal pain, Vertigo, Ventricular tachycardia, Gr... |
OMIM:263800 |
| Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Myocardial ... |
ORPHA:91139 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97283 |
| Mend Syndrome |
|
Hyperactivity, Short stature, Abnormal auditory evoked potentials, Aggressive behavior, Cleft pal... |
ORPHA:401973 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Ataxia, Tremor |
ORPHA:79095 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Somatic sensory dysfunction, Resting tremor, Ataxia, Abnormal auditory evoked ... |
ORPHA:909 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Vasculitis, Petechiae |
OMIM:603909 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Sensorineural hearing ... |
ORPHA:521426 |
| Aa Amyloidosis |
|
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Adrenal insufficiency, H... |
ORPHA:85445 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
| Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tremor, Bloody diarrhea, Hy... |
ORPHA:90068 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Esophageal varix, Portal hypertension |
ORPHA:974 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Neuroendocrine Neoplasm Of Appendix |
|
Anorexia, Poor appetite, Adenocarcinoma of the colon, Abdominal colic, Functional intestinal obst... |
ORPHA:100079 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Cer... |
ORPHA:927 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Hearing impairment |
OMIM:620114 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Hyperhidrosis, Abnormal left ventricular function, Ecchymosis, Int... |
ORPHA:99827 |
| Pitt-Hopkins Syndrome |
|
Incoordination, Supernumerary nipple, Cryptorchidism, Cupped ear, Gait ataxia, Self-injurious beh... |
OMIM:610954 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Otitis externa, Duodenitis, Bloody diarrhea |
OMIM:614328 |
| Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct |
ORPHA:18 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Ataxia, Impaired tac... |
ORPHA:206448 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Obesity, Self-injurious behavior, Hypertonia,... |
OMIM:616078 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Polyhydramni... |
OMIM:155310 |
| Mucopolysaccharidosis Type 2 |
|
Conductive hearing impairment, Abnormal repetitive mannerisms, Oppositional defiant disorder, Pap... |
ORPHA:580 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Hyperactivity, Abnormal pinna morphology, Short stature, Impaired pain sensation, Tics, Low-set e... |
ORPHA:261211 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97280 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... |
ORPHA:247691 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsarrhythmia, EEG abnormal... |
ORPHA:457351 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Protruding tongue, Postnatal growth retardation, Abnormal repetitive ma... |
OMIM:301040 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Growth delay, Testicular atrophy, Short stature |
OMIM:618165 |
| Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption |
OMIM:613291 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... |
ORPHA:79430 |
| Chylomicron Retention Disease |
|
Impaired vibratory sensation, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bow... |
OMIM:246700 |
| Pde4D Haploinsufficiency Syndrome |
|
Posteriorly rotated ears, Abnormal dental enamel morphology, Postnatal growth retardation, Hypote... |
ORPHA:439822 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Sensorineural hearing impairment, Xerostomia, Dysmetria |
OMIM:618527 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Recurrent pneumonia, Pneumonia, Esophagitis |
ORPHA:3348 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... |
OMIM:618056 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Speech apraxia, Pain insensitivity, Small earlobe, Posteriorly rotated ears, Ataxia, Broad-based ... |
OMIM:617330 |
| Seckel Syndrome 1 |
|
Hyperactivity, Abnormal pinna morphology, Hypospadias, Cryptorchidism, Low-set ears, Clitoral hyp... |
OMIM:210600 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Postnatal growth retardation, Abnormal repetitive mannerisms |
ORPHA:529965 |
| Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Edema, Orchitis, Angi... |
ORPHA:761 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Broad-based gait, Ataxia, External ear malformation, Dystonia |
ORPHA:438216 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Myocardial infarction, S... |
ORPHA:36426 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Optic disc pallor, Ankle flexion contracture, Polyhydramnios, Oligohydramni... |
ORPHA:464311 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Serotonin Syndrome |
|
Restlessness, Tachycardia, Tremor, Diarrhea, Hyperhidrosis, Hypertension, Agitation, Hypotension,... |
ORPHA:43116 |
| Van Esch-O'Driscoll Syndrome |
|
Hypogonadotropic hypogonadism, Impulsivity, Shyness, Unilateral vocal cord paralysis, Protruding ... |
OMIM:301030 |
| Hyperlysinemia |
|
Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di... |
ORPHA:2203 |
| 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Esophagitis, Feeding difficulties |
ORPHA:79350 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Deafness, Unilateral |
|
Unilateral deafness |
OMIM:125000 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Cardiomyopathy, Protein-losing enter... |
ORPHA:79327 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Diarrhea, Hematochezia, Acholic stools, Prolonged prothrombin time, Steatorrhea, Hepatic failure |
OMIM:613812 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Abnormal central motor function, Ataxia, Cerebral palsy, Sensorineural hearing imp... |
ORPHA:760 |
| Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Postnatal growth retardation, Dehydration, Feeding difficulties, Vomitin... |
ORPHA:556030 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Recurrent systemic pyogenic infections, Abnormal eosin... |
ORPHA:171 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Paralytic ileus, Melena, Prolonged prothrombi... |
OMIM:276700 |
| Agel Amyloidosis |
|
Tongue atrophy, Ataxia, Facial palsy, Edema, Xerostomia, Cardiomyopathy, Blepharochalasis, Arrhyt... |
ORPHA:85448 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Optic disc pallor, Hyperactivity, Multiple joint contractures, Short statur... |
ORPHA:464306 |
| Hereditary Hyperekplexia |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:3197 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Short stature, Rhizomelia, Decreased response to growth hormone stimulation test, ... |
ORPHA:319182 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Intestinal malrotation, Asplenia, Recurrent mycobacterial inf... |
ORPHA:244 |
| Ramos-Arroyo Syndrome |
|
Severe short stature, Aganglionic megacolon, Feeding difficulties in infancy, Xerostomia, Chronic... |
ORPHA:1051 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Multiple joint contractures, Hair-pulling, Protruding ear, Hypsarrhythmia, Gastroe... |
ORPHA:447997 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Peptic ulcer, Edema, Impaired temperature sensation, Malabsorption, ... |
ORPHA:2796 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Recurrent otitis media, Absent inner and outer dynein arms |
OMIM:614935 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Abdominal distention, Sensorineural hearing impairment, Peritonitis, Bidirectional... |
OMIM:619351 |
| Lujo Hemorrhagic Fever |
|
Facial edema, Periorbital edema, Odynophagia, Fulminant hepatitis, Hyperhidrosis, Vomiting, Ecchy... |
ORPHA:319213 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia... |
OMIM:610217 |
| Vici Syndrome |
|
Recurrent respiratory infections, Recurrent viral infections, Neutropenia, Chronic mucocutaneous ... |
OMIM:242840 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Facial palsy, Ataxia, ... |
ORPHA:31826 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Cleft palate, Recurrent infections, Increased mean corpuscular volume, Esophag... |
OMIM:612562 |
| Addison Disease |
|
Nausea and vomiting, Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol ... |
ORPHA:85138 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Edema, Hematemesis, Pericardial effusion, Diarrhea, Vasculitis, Bloody diarrh... |
OMIM:615846 |
| Childhood Absence Epilepsy |
|
Punding, Attention deficit hyperactivity disorder, Limb myoclonus, Abnormal social behavior, Jerk... |
ORPHA:64280 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Angina pectoris, Short stature, Abnormal large intestine morphology, Lymphe... |
ORPHA:109 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Oculogyric crisis, Pulmonary embolism, Tremor, Chorea, Dehydration, Hyperhidrosis, H... |
ORPHA:94093 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Polyhydramnios, Lymphedema, Abdominal distention, Cleft palate, Ascites, High pa... |
OMIM:235255 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Myoclonus, Spasticity, Failure to thrive |
OMIM:618201 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... |
ORPHA:465508 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Progressive flexion contractures, Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal ... |
ORPHA:522077 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Aggressive behavior, EEG with photoparoxysmal response, Multifocal epileptiform di... |
ORPHA:168491 |
| Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Hearing impairment |
OMIM:252900 |
| Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... |
ORPHA:167 |
| Analbuminemia |
|
Lipodystrophy, Oligohydramnios, Hypotension, Edema |
OMIM:616000 |
| Burning Mouth Syndrome |
|
Abnormal fifth cranial nerve morphology, Impaired temperature sensation, Dysesthesia, Strawberry ... |
ORPHA:353253 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Recurrent infections, Central hypothyroidism, Iron deficiency anemia, Lymp... |
ORPHA:1667 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Polyhydramnios, Postnatal growth retardation, Abdominal distention, Ascites, Hig... |
ORPHA:1655 |
| Peutz-Jeghers Syndrome |
|
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... |
OMIM:175200 |
| Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Impaired temperature sensation, Impotence, Fasciculations, ... |
OMIM:268800 |
| Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
| Pilarowski-Bjornsson Syndrome |
|
Postnatal growth retardation, Abnormal repetitive mannerisms |
OMIM:617682 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Hypertensive crisis, Telangiectasia of the skin, Malabsorption, Congestive h... |
ORPHA:220393 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hyperactivity, Hypospadias, Posteriorly rotated ears, Small for gestational age, A... |
OMIM:619148 |
| 5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Optic nerve hypoplasia, Feeding difficulties |
ORPHA:228384 |
| Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Edema, Right ventricul... |
ORPHA:100078 |
| Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
| Acute Adrenal Insufficiency |
|
Nausea and vomiting, Orthostatic hypotension, Decreased circulating cortisol level, Salt craving,... |
ORPHA:95409 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Involuntary movements, Asymmetry of the ears, Cryptorchidism, Inability to walk, Cup... |
ORPHA:3063 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Clonus, Optic nerve hypoplasia, Tremor, Macrotia, Spastic tetrapleg... |
OMIM:615574 |
| Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
| Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Abdominal pain, Diarrhea, Angioedema, Vomiting, Hypotension, Peau d'o... |
ORPHA:79455 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal bleeding, Inguinal hernia, External ear malformation,... |
ORPHA:2953 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Clonus, Protruding ear, Hypertonia, Tics, Otitis media, Compulsive behaviors, Micr... |
OMIM:619475 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Hyperactivity, Posteriorly rotated ears, Ataxia, Short stature, Hiatus hernia, Palpebr... |
OMIM:614756 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Inguinal hernia, Malabsorption, Feeding difficu... |
ORPHA:565 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Labial hypoplasia, Attention deficit hyperactivity disorder, ... |
OMIM:620073 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Failure to thrive, Cryptorchidism, Blepharospasm, Microtia, R... |
ORPHA:861 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia |
ORPHA:572013 |
| Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Gastroparesis, Hypoper... |
OMIM:611376 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... |
ORPHA:90024 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Multiple joint contractures, Severe short s... |
ORPHA:468631 |
| Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Limb tremor, Obesity, Clumsiness, Progressive gait ataxi... |
OMIM:105830 |
| Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Postnatal growth retardation, Vomiting, Elevated serum 11-deoxycortisol,... |
ORPHA:556037 |
| Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Diarrhea, Peritonitis, Leukoc... |
OMIM:249100 |
| Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Feeding difficulties, Self-injurious behavior, High palate, Attention deficit hy... |
OMIM:618354 |
| Mercury Poisoning |
|
Tachycardia, Anorexia, Tremor, Episodic abdominal pain, Hypertension, Hypotension, Dystonia, Epis... |
ORPHA:330021 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Cryptorchidism, Overfolded helix, Obesity, Low-set ears, Difficulty walking... |
OMIM:618653 |
| Floating-Harbor Syndrome |
|
Speech apraxia, Restlessness, Broad-based gait, Hypospadias, Small for gestational age, Impulsivi... |
ORPHA:2044 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Cryptorchidism, Attention deficit hyperactivity disorder, Decreased body... |
OMIM:619005 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Cupped ear, Xerostomia, Feeding difficulties, Microtia, Enamel hypoplasia, Hearing impairment |
OMIM:620193 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tub... |
ORPHA:139402 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Failure to thrive, Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing... |
OMIM:619512 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Growth delay, Testicular atrophy |
OMIM:613987 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Abnormality of extrapyramidal motor function, Decerebrate rigidity,... |
ORPHA:79255 |
| Distal Duplication 17Q |
|
Low-set, posteriorly rotated ears, Hyperactivity, Cryptorchidism, Protruding ear, Bilateral senso... |
ORPHA:3379 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... |
ORPHA:424 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Low-set ears, Attention deficit hyperact... |
OMIM:614294 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Splenomegaly, Chronic diarrhea, Recurrent infections, Leukop... |
OMIM:300972 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Increased theta frequency activity in EEG, EEG with focal spikes, Attention deficit hyperactivity... |
ORPHA:98784 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Villous atrophy, Edema, Diarrhea, Protein-losing enteropathy, Vomiting, Steato... |
OMIM:602579 |
| Legionnaires Disease |
|
Nausea and vomiting, Pericarditis, Ataxia, Anorexia, Abdominal pain, Myocarditis, Diarrhea, Hypot... |
ORPHA:549 |
| Charge Syndrome |
|
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ... |
OMIM:214800 |
| Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Inguinal hernia, Infancy onset short-trunk short stature, Posteriorl... |
ORPHA:508488 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Gastroesophageal reflux, Otitis media, Compulsive behaviors, Conductive hearing impairment, Abnor... |
ORPHA:353281 |
| Non-Functioning Pituitary Adenoma |
|
Nausea and vomiting, Hypopituitarism, Decreased response to growth hormone stimulation test, Redu... |
ORPHA:91349 |
| Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Protruding ear, High palate, Ecchymosis, Tricuspid regurgitation, Scarring, Hiatus hernia, Consti... |
OMIM:601776 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Feeding difficulties in infancy, Abnormal repetitive mannerisms, Tremor, Gai... |
ORPHA:476126 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Streak ovary, Hypospadias, Failure to thrive in infancy, Aganglionic m... |
ORPHA:798 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
| Bone Marrow Failure Syndrome 3 |
|
Hyperactivity, Pancreatic steatosis, Cryptorchidism, Cupped ear, Hyperechogenic pancreas, Failure... |
OMIM:617052 |
| Sickle Cell Disease |
|
Hemolytic anemia, Abdominal pain, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacte... |
OMIM:603903 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Central hypothyroidism, Lymphocytosis, Hypochro... |
ORPHA:514 |
| Esophageal Atresia |
|
Recurrent respiratory infections, Barrett esophagus, Intestinal malrotation, Feeding difficulties... |
ORPHA:1199 |
| Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Optic atrophy, Cleft palate, Prominent antihelix, Abnormal ant... |
ORPHA:2886 |
| Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Abnormal eating behavior, Aggressive behavior, Tremor, Delayed menar... |
ORPHA:247585 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Conductive hearing impairment, Chronic otitis media, Absent outer dynein arms |
OMIM:244400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Hypospadias, Posteriorly rotated ears, Small for gestational age, Cryptorchidism, ... |
OMIM:309590 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Hear... |
OMIM:227650 |
| Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Hyperhidrosis, Constipation, Palpitations, Abnormal autonomic nervous syste... |
OMIM:133020 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Recurrent otitis media |
OMIM:619607 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Rigidity, Falls, Difficulty walking, Hypothyroidism |
ORPHA:3198 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Anorexia, Iridocyclitis, Splenomegaly, Enlarged lacrimal glands, Bronchiectasis, Uv... |
OMIM:181000 |
| Beta-Ketothiolase Deficiency |
|
Ataxia, Anorexia, Edema, Diarrhea, Dehydration, Hypertension, Vomiting, Agitation, Hypotension, O... |
ORPHA:134 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperhidrosis, Intracranial hemorrhage, Vomiting, Ecchymosis, Internal hemorrhage, Nausea, Abdomi... |
ORPHA:340 |
| Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Bowel urgency, Poor appetite, Anorexia, Right ventricular failure, Eleva... |
ORPHA:97287 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Pain insensitivity, Ataxia, Diarrhea, Intr... |
ORPHA:90062 |
| Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Recurrent lower respiratory tract infections, Bronchiectasis, Recurre... |
ORPHA:60033 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
| Iatrogenic Botulism |
|
Orthostatic hypotension, Constipation, Xerostomia, Dysphagia |
ORPHA:254509 |
| Mend Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Hypertonia, Low-set ears, Overfolded hel... |
OMIM:300960 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Impaired vibration sensation in t... |
ORPHA:320406 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Short stature, Retinal telangiectasia, Postnatal growth retardation, Tremor, Optic atroph... |
OMIM:612199 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Recurrent bacterial infect... |
OMIM:241410 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Pericardial effusion, EEG with burst suppression, Shortened PR interval, C... |
OMIM:261740 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Hyperactivity, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babins... |
OMIM:234200 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Ataxia, Cardiac arrest, Anorexia, Edema, Reye syndrome-like episodes, Diarrhe... |
ORPHA:20 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Feeding difficulties in infancy, Repetitive compulsive behavior, Abnormal Eustachian tube morphol... |
ORPHA:513456 |
| Choreoacanthocytosis |
|
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ... |
ORPHA:2388 |
| 1P36 Deletion Syndrome |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Conductive hearing impairment, Abnormal... |
ORPHA:1606 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatosplenomegaly, Recurrent infections, Feeding difficulties, Esophagitis, Hepatic failure |
ORPHA:541423 |
| Gitelman Syndrome |
|
Hyperhidrosis, Prominent U wave, Abnormal T-wave, Hashimoto thyroiditis, Salt craving, Abdominal ... |
ORPHA:358 |
| Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Congenital hypoparathyroidism, Anemia |
OMIM:244460 |
| Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... |
OMIM:157800 |
| Lysinuric Protein Intolerance |
|
Glomerulonephritis, Decreased response to growth hormone stimulation test, Thrombocytopenia, Diar... |
ORPHA:470 |
| Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Growth delay, Steatorrhea, Fat malabsorption, Exocrine pancreatic insufficiency |
ORPHA:309108 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f... |
OMIM:301066 |
| Coffin-Siris Syndrome 12 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Short stature, Celia... |
OMIM:619325 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Poor appetite, Heart block, Diarrhea, Capillary leak, Pleural effusion, Reduced left... |
ORPHA:542323 |
| Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hypoplastic colon, Abnormal pinna morphology, Hypoplasia of the small intestine, Low... |
OMIM:200995 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Hyperactivity, Posteriorly rotated ears, Large for gestational age, Cryptorchidism, Low-set ears,... |
OMIM:607721 |
| Arboleda-Tham Syndrome |
|
Anteverted ears, Gastroesophageal reflux, Chronic otitis media, Small earlobe, Abnormal repetitiv... |
OMIM:616268 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Lymphedema, Protein-losing enteropathy, Polyhydramnios, Feeding difficulties |
OMIM:618154 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Polyphagia, Gastroeso... |
OMIM:615873 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, External genital hypoplasia, Short stature, Decreased response to ... |
ORPHA:177907 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Feeding difficulties in infancy, Diarrhea, Dehydration, Hyperaldosteronism, Vomiting, Pseudohypoa... |
OMIM:264350 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Hydrocele te... |
OMIM:619522 |
| Acute Radiation Syndrome |
|
Abnormal bleeding, Vertigo, Diarrhea, Telangiectasia, Vomiting, Hypotension |
ORPHA:454831 |
| Distal Deletion 12Q |
|
Hyperactivity, Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in infancy, Maturi... |
ORPHA:96149 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, High palate, Hepatic failure, Mitochondrial swelling, Polycythemia |
OMIM:606812 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the spleen, Rectal atre... |
ORPHA:2538 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Odynophagia, Dehydration, Bloody diarrhea, Vomiting, Internal hemorrhage, Nausea, Abnor... |
ORPHA:99826 |
| Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time, Protein-losing enteropathy, Ataxia |
ORPHA:95428 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clonus |
OMIM:609541 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:91354 |
| Kinsship Syndrome |
|
Short stature, Abnormal repetitive mannerisms, Chronic constipation, Gastroesophageal reflux, Low... |
OMIM:619297 |
| Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Growth delay, Ab... |
ORPHA:95619 |
| Hardikar Syndrome |
|
Short stature, Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac disease, He... |
OMIM:301068 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polyhydramnios, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, High palate... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polyhydramnios, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, High palate... |
ORPHA:353277 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Feeding difficulties in infancy, Dehydration, Growth delay, Vomiting, Hypotension, Decreased circ... |
OMIM:203400 |
| Refractory Celiac Disease |
|
Villous atrophy, Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Protein-losing en... |
ORPHA:398063 |
| Ogden Syndrome |
|
Lymphedema, Ventricular tachycardia, Protruding ear, High palate, Vomiting, Supraventricular tach... |
OMIM:300855 |
| Serkal Syndrome |
|
Congenital diaphragmatic hernia, Malrotation of small bowel, Growth delay, Pulmonic stenosis, Oli... |
ORPHA:139466 |
| Tsh-Secreting Pituitary Adenoma |
|
Tremor, Hyperhidrosis, Vomiting, Hyperthyroidism, Pericardial effusion, Vertigo, Hypotension, Del... |
ORPHA:91347 |
| Reynolds Syndrome |
|
Telangiectasia of the skin, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal refl... |
ORPHA:779 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding |
ORPHA:98870 |
| Dextrocardia |
|
Abnormal EKG, Intestinal malrotation, T-wave inversion, Meckel diverticulum, Aplasia/Hypoplasia o... |
ORPHA:1666 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Lip telangiectasia, Palmar telangiectasia, Steat... |
OMIM:613471 |
| Duane Retraction Syndrome |
|
External ear malformation, Sensorineural hearing impairment, Anorectal anomaly, Cleft palate, Ble... |
ORPHA:233 |
| Scrub Typhus |
|
Abnormal bleeding, Nausea and vomiting, Abdominal pain, Tremor, Myocarditis, Hyperhidrosis, Hypot... |
ORPHA:83317 |
| Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Macroglossia, Vacuolated lymphocytes, Recurrent bacterial infections |
OMIM:248500 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotati... |
ORPHA:2241 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
| Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Ascites... |
OMIM:615710 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Pain insensitivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive beh... |
OMIM:620330 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Osteomyelitis, Myeloproliferative disorder |
ORPHA:70591 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Esophageal varix, Hypertension, Neonatal death |
OMIM:263200 |
| Developmental And Epileptic Encephalopathy 100 |
|
Protruding tongue, Bilateral camptodactyly, Chorea, Elbow flexion contracture, EEG with photoparo... |
OMIM:619777 |
| Developmental And Epileptic Encephalopathy 2 |
|
Hypsarrhythmia, Constipation, Gastroesophageal reflux, Abnormal repetitive mannerisms, EEG with g... |
OMIM:300672 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Lymphedema, Optic atrophy, Chylopericardium, Chyloth... |
ORPHA:538 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Pulmonary insufficiency, Intestinal malrotation, Polyhydramnios, Nonimmune hydrops f... |
OMIM:265380 |
| Familial Hypoaldosteronism |
|
Nausea and vomiting, Orthostatic hypotension, Diarrhea, Hypovolemia, Feeding difficulties, Growth... |
ORPHA:427 |
| Legius Syndrome |
|
Hyperactivity, Ovarian neoplasm, Vestibular schwannoma, Male urethral meatus stenosis, Attention ... |
ORPHA:137605 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Pedal edema, Pleural effusion, Hypotension, ... |
ORPHA:188 |
| Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Impaired proprioception, Growth delay, Vomiting, Steatorrhea, Fat... |
ORPHA:71 |
| Prolactinoma |
|
Nausea and vomiting, Elevated circulating growth hormone concentration, Vertigo, Adrenocorticotro... |
ORPHA:2965 |
| Rift Valley Fever |
|
Abnormal bleeding, Anorexia, Hematemesis, Vertigo, Retinal hemorrhage, Macular edema, Melena, Gin... |
ORPHA:319251 |
| Intussusception |
|
Intussusception |
OMIM:147710 |
| Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Abnormal ear morphology, Gastrostomy tube feeding in i... |
ORPHA:1708 |
| Perry Syndrome |
|
Tremor, Hypotension |
ORPHA:178509 |
| Niemann-Pick Disease, Type C2 |
|
Dystonia, Ataxia, Fetal ascites, Polyhydramnios, Dysphagia, Abnormal repetitive mannerisms |
OMIM:607625 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Edema, Abdominal pain, Pericardial effusion, Ch... |
ORPHA:90362 |
| Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Small for gestational age, Diabetes mellitus, ... |
ORPHA:125 |
| Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia |
ORPHA:1267 |
| Fryns Syndrome |
|
Omphalocele, Meckel diverticulum, Aganglionic megacolon, Intestinal malrotation, Polyhydramnios, ... |
OMIM:229850 |
| Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Feeding difficulties in infancy, Dehydration, Protruding ear, Gastroesophage... |
ORPHA:534 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Posteriorly rotated ears, Congenital diaphragmatic hernia, Cleft palate, Hypsarrhythmia, Growth d... |
OMIM:301044 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Anorexia, Diarrhea, Episodic abdominal pain, Congenital hyp... |
ORPHA:361 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Bruising susceptibility, Arterial rupture |
OMIM:225400 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Pleural empyema, Addictive alcohol use, Hypotension, Pleural effusion |
ORPHA:36238 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Dehydration, Feeding difficulties, Hyperaldosteronism, Vomiting, Pseudohypoaldosteronis... |
OMIM:177735 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Peptic ulcer, Pituitary null cell adenoma, Pituitary corticotropic cell aden... |
ORPHA:276152 |
| Congenital Tracheal Stenosis |
|
Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoesophageal fistula, Abnormal e... |
ORPHA:141127 |
| Relapsing Fever |
|
Abnormal bleeding, Tachycardia, Epistaxis, Abdominal pain, Diarrhea, Prolonged prothrombin time, ... |
ORPHA:91547 |
| Necrotizing Enterocolitis |
|
Shock, Edema, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Bradycardia... |
ORPHA:391673 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Rigidity, Opisthotonus, Myoclonic spasms, Freque... |
OMIM:184850 |
| Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia |
ORPHA:228371 |
| Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexuality, Diarrhea, Ch... |
ORPHA:217253 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Fat malabsorption, Short stature, Epistaxis, Diarrhea |
OMIM:211600 |
| Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre... |
ORPHA:252183 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
| Tako-Tsubo Cardiomyopathy |
|
Vomiting, Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia,... |
ORPHA:66529 |
| Primary Biliary Cholangitis |
|
Celiac disease, Abdominal distention, Hepatitis, Gastrointestinal inflammation, Recurrent fungal ... |
ORPHA:186 |
| Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... |
ORPHA:275761 |
| Congenital Enterovirus Infection |
|
Abnormal bleeding, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops feta... |
ORPHA:292 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Poor appetite, Diarrhea, Prolonged prothrombin time |
ORPHA:247598 |
| Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colit... |
OMIM:617137 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Cranial nerve compression, Dehydration, Multiple lipomas, Zollinger-Ellison syndrome, G... |
ORPHA:652 |
| Mucoepithelial Dysplasia, Hereditary |
|
Chronic diarrhea, Furrowed tongue, Melena, Corneal neovascularization, Hearing impairment |
OMIM:158310 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Short stature, Impulsivity, Impaired temperature sensation, Flexion contracture, Xerostomia, Poly... |
ORPHA:398069 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hyperactivity, Small scrotum, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Sensorineura... |
OMIM:309580 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Megaloblastic anemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis |
ORPHA:79351 |
| Amyotrophic Lateral Sclerosis |
|
Nausea and vomiting, Amyotrophic lateral sclerosis, Motor neuron atrophy, Xerostomia, Agitation |
ORPHA:803 |
| Eec Syndrome |
|
Short stature, Abnormal dental enamel morphology, Decreased response to growth hormone stimulatio... |
ORPHA:1896 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increased circulating gonadotropin le... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increased circulating gonadotropin le... |
ORPHA:99228 |
| Monosomy X |
|
Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increased circulating gonadotropin le... |
ORPHA:99226 |
| Turner Syndrome |
|
Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increased circulating gonadotropin le... |
ORPHA:881 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Short stature, Sensorineural hearing impairment, Malrotation of small ... |
OMIM:194190 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased response to growth hormone stimulation test, Poor appetite, Feeding difficulties in inf... |
ORPHA:96182 |
| Trisomy 8P |
|
Multiple joint contractures, Posteriorly rotated ears, Malrotation of small bowel, Aplasia/Hypopl... |
ORPHA:264450 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Hypertonia |
ORPHA:163985 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Fasciitis, Tachycardia, Edema, Abdominal pain, Myocarditis, Diarrhea, Peritonitis, Capilla... |
ORPHA:36234 |
| Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Precocious puberty, Tremor, Spasticity, Choreoathetosis, Self-injurious behavior, ... |
ORPHA:1934 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Bradycardia, Hypotension, Pulmonary edema |
ORPHA:70587 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Nausea |
OMIM:229600 |
| Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
| Argininemia |
|
Hyperactivity, Anorexia, Postnatal growth retardation, Progressive spastic quadriplegia, Spastic ... |
OMIM:207800 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:1901 |
| Chromomycosis |
|
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca |
ORPHA:182 |
| Antisynthetase Syndrome |
|
Aortic regurgitation, Telangiectasia of the skin, Edema, Myocarditis, Xerostomia, Dysphagia, Pulm... |
ORPHA:81 |
| Cholera |
|
Tachycardia, Achlorhydria, Abdominal pain, Diarrhea, Dehydration, Hypovolemic shock, Vomiting, Ab... |
ORPHA:173 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Hypotension, Pancreatitis, Pulmonary edema |
ORPHA:70578 |
| Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
| Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Palpi... |
ORPHA:2847 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Short stature, Diarrhea, Hepatocellular carcinoma |
OMIM:601847 |
| Localized Scleroderma |
|
Fasciitis, Uveitis, Arthritis, Gastroesophageal reflux, Esophagitis, Hashimoto thyroiditis |
ORPHA:90289 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Camptodactyly of finger, S... |
ORPHA:2907 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Short stature, Optic nerve hypoplasia, Facial palsy, Exocrine pancreatic in... |
ORPHA:508498 |
| Scedosporiosis |
|
Pericarditis, Pleural empyema, Abnormal jejunum morphology |
ORPHA:449280 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Encopresis, Feeding difficulties, Gas... |
OMIM:616682 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Dehydration, Abnormal small intesti... |
ORPHA:2290 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... |
OMIM:175050 |
| Adiposis Dolorosa |
|
Telangiectasia of the skin, Diarrhea, Xerostomia, Constipation, Paresthesia, Bruising susceptibil... |
ORPHA:36397 |
| Postorgasmic Illness Syndrome |
|
Hypertension, Xerostomia, Palpitations, Hyperhidrosis |
ORPHA:279947 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum |
OMIM:300291 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Postnatal growth retardation, Prolonged prothrombin time, Steatorrhea, Fat malabsorption, Hepatic... |
ORPHA:79303 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
| Bartter Syndrome, Type 2, Antenatal |
|
Short stature, Polyhydramnios, Diarrhea, Low-to-normal blood pressure, Dehydration, Hyperaldoster... |
OMIM:241200 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
| Primrose Syndrome |
|
Restlessness, Calcification of the auricular cartilage, Hypergonadotropic hypogonadism, Ataxia, D... |
OMIM:259050 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Peptic ulcer, Abdominal pain, Diarrhea, Syncope, Hypotension, Nausea |
ORPHA:98849 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Portal hypertension, Hepatic failure, Microcolon, Oligohydramnios |
OMIM:619431 |
| Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
| Fanconi Anemia |
|
Aganglionic megacolon, Short stature, External ear malformation, Hearing abnormality, Aplasia/Hyp... |
ORPHA:84 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Sepsis, Leukopenia, Protein-losing enteropathy, Vomiting,... |
OMIM:619991 |
| Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematemesis, Esophage... |
ORPHA:480520 |
| Onychotrichodysplasia And Neutropenia |
|
Chronic irritative conjunctivitis, Chronic neutropenia, Recurrent infections, Lymphocytosis, Neut... |
OMIM:258360 |
| Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Prolonged QT interval, Anhidrosis, Sinus tachycardia, Ataxia, Vertigo, Hepatic... |
ORPHA:466650 |
| Abetalipoproteinemia |
|
Abnormal bleeding, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Congesti... |
ORPHA:14 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Exaggerated startle response, Short stature, Involuntary movements, Dystonia, P... |
ORPHA:438213 |
| Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Inguinal hernia, Postnatal growth retardation, Congestive heart failure, Pr... |
ORPHA:90348 |
| Prader-Willi Syndrome |
|
Gastroparesis, Short stature, Decreased response to growth hormone stimulation test, Impaired tem... |
ORPHA:739 |
| Immunodeficiency 31C |
|
Villous atrophy, Short stature, Diarrhea, Gastrointestinal eosinophilia, Growth delay, Protein-lo... |
OMIM:614162 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala... |
ORPHA:261584 |
| Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Abnormal pinna morphology, Cupped ear, Cleft palate, Atresia... |
OMIM:219000 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
| Delpire-Mcneill Syndrome |
|
Bilateral sensorineural hearing impairment, Dysphagia |
OMIM:619083 |
| Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,... |
ORPHA:2896 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Hepatic failure |
OMIM:607765 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon, Polyhydramnios |
OMIM:619362 |
| Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Abdominal pain, Congestive heart failure, Optic atrophy, Paresthesia, Hypotension... |
ORPHA:428 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hypotension, Dehydration |
OMIM:620125 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Aganglionic megacolon, Eczema, Keratitis, Cryptor... |
ORPHA:2273 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
| Abetalipoproteinemia |
|
Fat malabsorption, Ataxia |
OMIM:200100 |
| Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Skin rash, Anorexia, Pustule, Myocarditis, Thrombocyto... |
ORPHA:50918 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Myoclonus, Spasticity |
ORPHA:309155 |
| Pituitary Apoplexy |
|
Nausea and vomiting, Decreased response to growth hormone stimulation test, Reduced circulating p... |
ORPHA:95613 |
| Hellp Syndrome |
|
Pulmonary edema, Nausea, Abdominal pain, Cerebral hemorrhage, Prolonged prothrombin time, Vomitin... |
ORPHA:244242 |
| Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Failure to thrive in infancy, Cryptorchidism, Sensorineural hearin... |
OMIM:163950 |
| Colchicine Poisoning |
|
Congestive heart failure, Diarrhea, Myocarditis, Hypovolemia, Dehydration, Vomiting, Hypotension,... |
ORPHA:31824 |
| Restrictive Dermopathy |
|
Multiple joint contractures, Camptodactyly of finger, Polyhydramnios, Submucous cleft hard palate... |
ORPHA:1662 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Cryptorchidism, Constipation, Esophagitis, Dysphagia |
ORPHA:495818 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Decreased circulating cortisol level, Hypotension |
OMIM:611489 |
| Yellow Fever |
|
Abnormal bleeding, Shock, Nausea, Abdominal pain, Hematemesis, Excessive bleeding after a venipun... |
ORPHA:99829 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Thyr... |
ORPHA:293978 |
| Arterial Tortuosity Syndrome |
|
Hiatus hernia, Pyloric stenosis, Myocarditis, Gastroesophageal reflux, Esophagitis, Median cleft ... |
ORPHA:3342 |
| Inhalational Anthrax |
|
Vomiting, Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Hypertonia |
OMIM:272800 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious be... |
OMIM:612474 |
| Lacrimoauriculodentodigital Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormal dental enamel morphology, Sensorine... |
ORPHA:2363 |
| Leptospirosis |
|
Nausea and vomiting, Papilledema, Pericarditis, First degree atrioventricular block, Anorexia, Ab... |
ORPHA:509 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Achalasia, Esophagitis, Feeding difficulties |
OMIM:615356 |
| Mowat-Wilson Syndrome |
|
Uplifted earlobe, Cleft hard palate, Gastrointestinal dysmotility, Flexion contracture, Vomiting,... |
ORPHA:2152 |
| Cystinosis, Nephropathic |
|
Male infertility, Diabetes mellitus, Short stature, Failure to thrive in infancy, Oral-pharyngeal... |
OMIM:219800 |
| Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, Hypote... |
ORPHA:199296 |
| Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Polyhydramnios, High, narrow palate, High palate, Gastroe... |
OMIM:619472 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia, Hepatic failure |
ORPHA:159 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anhidrosis, Fasciitis, Osteomyelitis, Abscess, Feeding difficulties, Hyperhidrosis, Aplasia of th... |
ORPHA:642 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Gastroparesis, Hiatus hernia, High, narrow palate, Hepatitis,... |
ORPHA:198 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Dehydration, Adrenocorticotropic hormone excess, Vomiting, ... |
ORPHA:90791 |
| Genitopatellar Syndrome |
|
Hip contracture, Anal stenosis, Polyhydramnios, Malrotation of small bowel, Knee flexion contract... |
OMIM:606170 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Hypovolemia... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Hypovolemia... |
ORPHA:289548 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Inguinal hernia, Abnormal cardiac ventricular function, Severe short stature, Dystonia, Pyloric s... |
ORPHA:90349 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Short stature, Hypertonia, Dysphagia, Spasticity |
OMIM:618367 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Inguinal hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hem... |
OMIM:600001 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Polyhydramnios, Disproportionate short stature, Elbow flexion contracture, Opisthotonus, Abnormal... |
ORPHA:508533 |
| Lowe Oculocerebrorenal Syndrome |
|
Short stature, Aggressive behavior, Postnatal growth retardation, Cryptorchidism, Failure to thri... |
OMIM:309000 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Uplifted earlobe, Cleft hard palate, Flexion contracture, Abnormal repetitive mannerisms, Bifid u... |
ORPHA:261537 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Inguinal hernia, Absence of Stensen duct, Decreased response to growth hormone stimulation test, ... |
OMIM:129900 |
| Renal Tubular Dysgenesis |
|
Hypotension, Oligohydramnios |
OMIM:267430 |
| Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xe... |
OMIM:604292 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Uplifted earlobe, Cleft hard palate, Flexion contracture, Abnormal repetitive mannerisms, Bifid u... |
ORPHA:261552 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Abdominal pain, Esophageal stricture, Flexion contracture, Xerostomia, Diarr... |
ORPHA:99921 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Optic atrophy |
OMIM:253800 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Inguinal hernia, Intestinal malrotation, Congenital diaphragmat... |
OMIM:312870 |
| Lambert-Eaton Myasthenic Syndrome |
|
Xerostomia, Hypohidrosis, Constipation, Abnormal autonomic nervous system physiology, Orthostatic... |
ORPHA:43393 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Pituitary dwarfism, Optic nerve hypoplasia, Decreased response to growth h... |
ORPHA:95494 |
| Helix Syndrome |
|
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis, Polydipsia |
OMIM:617671 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99104 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Celiac disease, Xerostomia, Primary adrenal in... |
ORPHA:227982 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Short stature, Polyhydramnios, Diarrhea, Low-to-normal blood pressure, Dehyd... |
OMIM:601678 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Celiac disease, Xerostomia, Primary adrenal insufficiency, Graves disease, Ha... |
ORPHA:227990 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
| Bartter Syndrome, Type 3 |
|
Hyperaldosteronism, Hypotension, Dehydration |
OMIM:607364 |
| Blau Syndrome |
|
Pericarditis, Facial palsy, Camptodactyly of finger, Xerostomia, Large vessel vasculitis, Hyperte... |
ORPHA:90340 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Decreased circulating cortisol level, Short stature, Hypovolemia, Primary adrenal insuffic... |
ORPHA:90794 |
| Non-Acquired Panhypopituitarism |
|
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Pituita... |
ORPHA:90695 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Hypotension |
OMIM:174000 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Abdominal distention, Diarrhea, Xero... |
ORPHA:95455 |
| Cystic Fibrosis |
|
Male infertility, Failure to thrive |
OMIM:219700 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Mixed hearing impairment, Absence of Stensen duct, Cupped ear, Xerostomia, Microtia, Aplasia of t... |
OMIM:149730 |
| Proteus Syndrome |
|
Macrotia, Low-set ears, Narrow internal auditory canal |
ORPHA:744 |
