| Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
| Deafness, Autosomal Recessive 84B |
|
Hearing impairment, Vestibular hypofunction |
OMIM:614944 |
| Deafness, Autosomal Recessive 1B |
|
Vestibular dysfunction, Hearing impairment |
OMIM:612645 |
| Deafness, Autosomal Recessive 84A |
|
Vestibular dysfunction, Hearing impairment |
OMIM:613391 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal speech discrimina... |
OMIM:609129 |
| Deafness, Autosomal Dominant 65 |
|
Progressive hearing impairment, Vestibular dysfunction |
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 112 |
|
Progressive hearing impairment |
OMIM:618257 |
| Deafness, Autosomal Recessive 102 |
|
Profound hearing impairment |
OMIM:615974 |
| Deafness, Autosomal Dominant 18 |
|
Progressive hearing impairment |
OMIM:606012 |
| Deafness, Autosomal Recessive 89 |
|
Hearing impairment |
OMIM:613916 |
| Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
| Deafness, Autosomal Dominant 56 |
|
Hearing impairment |
OMIM:615629 |
| Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
| Deafness, Autosomal Dominant 52 |
|
Hearing impairment |
OMIM:607683 |
| Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
| Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
| Deafness, Autosomal Dominant 4B |
|
Hearing impairment |
OMIM:614614 |
| Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
| Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
| Deafness, Autosomal Dominant 73 |
|
Hearing impairment |
OMIM:617663 |
| Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
| Deafness, Autosomal Dominant 74 |
|
Hearing impairment |
OMIM:618140 |
| Deafness, Autosomal Recessive 74 |
|
Hearing impairment |
OMIM:613718 |
| 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 70, With Or Without Adult-Onset Neurodegeneration |
|
Hearing impairment |
OMIM:614934 |
| Deafness, Autosomal Recessive 18B |
|
Hearing impairment |
OMIM:614945 |
| 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 |
|
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Facial Paresis, Hereditary Congenital, 2 |
|
Facial palsy, Hearing impairment |
OMIM:604185 |
| Deafness, Autosomal Recessive 25 |
|
Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hearing impairment |
OMIM:615266 |
| Usher Syndrome, Type Id |
|
Vestibular dysfunction, Hearing impairment |
OMIM:601067 |
| Deafness, Autosomal Recessive 30 |
|
Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
| Keratoderma, Palmoplantar, With Deafness |
|
Hearing impairment |
OMIM:148350 |
| Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
| 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 |
| Gonadoblastoma |
|
Abnormality of the ovary, Increased serum testosterone level, Ovarian gonadoblastoma, Gonadal cal... |
ORPHA:206484 |
| Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
| Fibromatosis, Gingival, 1 |
|
Hearing impairment |
OMIM:135300 |
| Deafness, X-Linked 4 |
|
High-frequency hearing impairment, Sensorineural hearing impairment |
OMIM:300066 |
| Deafness, Autosomal Dominant 49 |
|
Progressive hearing impairment, Sensorineural hearing impairment |
OMIM:608372 |
| Deafness, Mid-Tone Neural |
|
Progressive hearing impairment, Sensorineural hearing impairment |
OMIM:124700 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Cryptorchidism, Micropenis, Congenital adrenal hypoplasia |
OMIM:202150 |
| Omphalocele, Autosomal |
|
Omphalocele, Inguinal hernia |
OMIM:164750 |
| Genitopalatocardiac Syndrome |
|
Renal cyst, Micrognathia, Double outlet right ventricle, Right aortic arch, Ventricular septal de... |
OMIM:231060 |
| Microphthalmia, Syndromic 12 |
|
Broad nasal tip, Anophthalmia, Cryptorchidism, Wide nasal bridge, Congenital diaphragmatic hernia... |
OMIM:615524 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Abnormality of the uterine cervix, Aplasia of the uterus, ... |
ORPHA:99429 |
| Holoprosencephaly 5 |
|
Central diabetes insipidus, Semilobar holoprosencephaly, High palate, Holoprosencephaly, Lobar ho... |
OMIM:609637 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Hearing impairment |
OMIM:120040 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| 46,Xx Sex Reversal 5 |
|
Increased serum testosterone level, Urogenital sinus anomaly, Ambiguous genitalia |
OMIM:618901 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Fetal Minoxidil Syndrome |
|
Cryptorchidism, Micrognathia, Depressed nasal bridge, Ventricular septal defect, Umbilical hernia |
ORPHA:1918 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Cryptorchidism, Hydronephrosis, Micrognathia, Inguinal hernia, Single ventricl... |
OMIM:601186 |
| Partial Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Aplasia of the uterus, Perineal hypospadias, Azoospermia, ... |
ORPHA:90797 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal cyst, Hypoplasia of the ulna, Renal hypoplasia, Micrognathia, Ventricular septal defect, Tr... |
OMIM:228940 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
| 46,Xy Sex Reversal 11 |
|
Decreased antimullerian hormone level, Aplasia of the uterus, Elevated circulating luteinizing ho... |
OMIM:273250 |
| 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 |
|
Prelingual sensorineural hearing impairment, 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 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Underdeveloped nasal alae, Hydranencephaly, Short distal phalanx of fi... |
OMIM:601355 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... |
OMIM:606217 |
| Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Short toe, Umbilical h... |
OMIM:615297 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Ectopic kidney, Atrial septal defect, Cryptorchidism, Wide nasal bridge, Short thumb, Abnormal he... |
ORPHA:401935 |
| Hypersecretion Of Adrenal Androgens, Familial |
|
Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity |
OMIM:145295 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Renal agenesis, Underdeveloped nasal alae, Renal hypoplasia/aplasia, Micrognathia, Short distal p... |
ORPHA:2516 |
| Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
| Holoprosencephaly 7 |
|
Semilobar holoprosencephaly, Hydrocephalus, Fusion of the left and right thalami, Solitary median... |
OMIM:610828 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... |
OMIM:618780 |
| Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
| Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
| 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 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 35 |
|
Sensorineural hearing impairment |
OMIM:608565 |
| Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
| Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
| 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 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
| Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
| Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
| 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 |
| Anencephaly 2 |
|
Cleft of alveolar ridge of maxilla, Anophthalmia, Median cleft palate, Anencephaly, Bifid nose, M... |
OMIM:619452 |
| 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 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 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
| Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment |
OMIM:618915 |
| Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
| 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, Mental Retardation, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
| Deafness, Autosomal Recessive 100 |
|
Sensorineural hearing impairment |
OMIM:618422 |
| Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
| Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
| Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
| Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
| Deafness, Autosomal Recessive 99 |
|
Sensorineural hearing impairment |
OMIM:618481 |
| Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
| Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
| Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
| Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
| Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
| Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
| 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 Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
| Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Bilateral cry... |
OMIM:261550 |
| Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... |
ORPHA:314478 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Cryptorchidism, Male pseudohermaphroditism, Abnormal circulating dehydroepiandrosterone concentra... |
ORPHA:90791 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... |
OMIM:202010 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormality of the external ... |
ORPHA:141091 |
| Holoprosencephaly 2 |
|
Bifid uvula, Solitary median maxillary central incisor, Agenesis of corpus callosum, Cerebellar h... |
OMIM:157170 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... |
OMIM:217095 |
| Holoprosencephaly 4 |
|
Semilobar holoprosencephaly, Depressed nasal bridge, Median cleft lip and palate, Median cleft li... |
OMIM:142946 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Decreased serum testosterone concentra... |
OMIM:614841 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Progressive hearing impairment, Sensorineural hearing impairment, Low-frequency hearing loss |
OMIM:124900 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Testicular dysgenesis, Ambiguous genitalia, Mic... |
OMIM:615542 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Premature pubarche, Polycystic ovaries, Test... |
ORPHA:90795 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... |
OMIM:612474 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
| Lipoprotein Glomerulopathy |
|
Renal insufficiency, Glomerulopathy, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Microphthalmia, Oral cleft, Bilateral microphthalmos, Holoprosencephaly |
OMIM:611638 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Absence of pubertal development, Micro... |
OMIM:614840 |
| Thymic Aplasia With Fetal Death |
|
Renal agenesis, Abnormality of the endocrine system, Ureteral agenesis, Truncus arteriosus |
OMIM:274210 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal aortic arch morphology, Maternal diabetes, Patent d... |
ORPHA:860 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Micropenis, Decreased ser... |
OMIM:618841 |
| Polyembryoma |
|
Increased serum testosterone level, Increased serum serotonin, Abnormal circulating gonadotropin ... |
ORPHA:180229 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Intrauterine growth retardation, Abnormality of the diencephalon, Aplasia/Hypoplasia of the lungs... |
ORPHA:2570 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Long nose, Dental malocclusion, Premature ovarian insufficiency, Horse... |
ORPHA:363444 |
| Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
| Deafness, X-Linked 6 |
|
Hearing impairment, Cochlear malformation |
OMIM:300914 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Dextrocardia, Micrognathia, Microphthalmia, Prominent nose |
OMIM:221950 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Ectopia of the s... |
OMIM:613751 |
| Bifid Nose, Autosomal Dominant |
|
Cryptorchidism |
OMIM:109740 |
| 7P22.1 Microduplication Syndrome |
|
Cryptorchidism |
ORPHA:314034 |
| Solitary Median Maxillary Central Incisor |
|
Pyriform aperture stenosis, Anosmia, Anophthalmia, Cleft upper lip, Solitary median maxillary cen... |
OMIM:147250 |
| Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence |
|
Holoprosencephaly |
OMIM:306990 |
| Premature Ovarian Failure 16 |
|
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... |
OMIM:618723 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Absent testis, Micropenis, Decreased serum testosterone concentration, ... |
ORPHA:325124 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... |
ORPHA:1455 |
| Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
| Dent Disease 2 |
|
Increased circulating lactate dehydrogenase concentration, Nephrocalcinosis, Elevated circulating... |
OMIM:300555 |
| Hartsfield Syndrome |
|
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencepha... |
ORPHA:2117 |
| Caudal Appendage-Deafness Syndrome |
|
Cryptorchidism |
ORPHA:1123 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... |
OMIM:308990 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Cerebral dysmyelination, Hyperintensity of cerebral white matter on MRI, Global brain atrophy, Re... |
OMIM:611722 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly |
OMIM:617967 |
| Premature Ovarian Failure 17 |
|
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... |
OMIM:619146 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... |
OMIM:613854 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Increased serum testosterone level, Hypoplasia of the uterus, Abnormal ... |
ORPHA:247768 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Agenesis of corpus callosum, Cleft ala nasi, Dandy-Walker malformation, Microphthal... |
OMIM:164180 |
| Meckel Syndrome, Type 8 |
|
Anophthalmia, Encephalocele, Cleft upper lip, Depressed nasal ridge, Microcephaly, Microphthalmia... |
OMIM:613885 |
| Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology, Delayed puberty |
OMIM:233270 |
| Bronchopulmonary Dysplasia |
|
Abnormal respiratory system physiology, Emphysema, Pulmonary sequestration, Respiratory failure r... |
ORPHA:70589 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Agenesis of corpus callosum, Bronchiectasis, Atelectasis, Lissencephaly, Recurrent respiratory in... |
OMIM:619466 |
| 8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis, Ventricular septal... |
ORPHA:251076 |
| Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Atrial septal defect, Hypoplasia of the maxilla, Short distal phalanx of fi... |
OMIM:614261 |
| Fetal Encasement Syndrome |
|
Omphalocele, Tetralogy of Fallot, Congenital diaphragmatic hernia |
OMIM:613630 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... |
ORPHA:168563 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction, Patent ductus arteriosus, Left ventricular noncompaction cardiomy... |
OMIM:604169 |
| Emanuel Syndrome |
|
Renal agenesis, Patent ductus arteriosus, Atrial septal defect, Micropenis, Renal hypoplasia, Cry... |
OMIM:609029 |
| Rowley-Rosenberg Syndrome |
|
Aminoaciduria, Cor pulmonale, Reduced subcutaneous adipose tissue, Right ventricular hypertrophy |
OMIM:268500 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cleft upper lip, Microcephaly, Microphthalmia, Depressed nasal bridge, Holoprosencephaly, Antever... |
OMIM:612530 |
| Leydig Cell Hypoplasia |
|
Hyoplasia of the Leydig cells, Primary gonadal insufficiency, Aplasia of the uterus, Female hypog... |
ORPHA:755 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Partial agene... |
OMIM:604213 |
| 47,Xyy Syndrome |
|
Varicocele, Cryptorchidism, Increased serum testosterone level, Azoospermia, Micropenis, Oligospe... |
ORPHA:8 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism |
OMIM:274205 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
| Stankiewicz-Isidor Syndrome |
|
Absent thumb, Pineal cyst, Patent ductus arteriosus, Ureteral duplication, Micropenis, Cryptorchi... |
OMIM:617516 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... |
ORPHA:79127 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Johnson Neuroectodermal Syndrome |
|
Hypogonadotropic hypogonadism, Anosmia, Patent ductus arteriosus, Micropenis, Choanal stenosis, C... |
OMIM:147770 |
| Functioning Gonadotropic Adenoma |
|
Central diabetes insipidus, Delayed puberty, Panhypopituitarism, Increased serum testosterone lev... |
ORPHA:91348 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Convex nasal ridge, Wide nasal bridge, Microphthalmia, Retrog... |
OMIM:618804 |
| Acalvaria |
|
Spina bifida, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Cleft palate |
ORPHA:945 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria |
OMIM:614199 |
| Meniere Disease |
|
Tinnitus, Vertigo, Hearing impairment |
OMIM:156000 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... |
OMIM:137950 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus |
OMIM:125520 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cryptorchidism |
OMIM:617796 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular acidosis, Nephrocalcinosis, Atrial septal defect, Nephrogenic diabetes insipidus, M... |
OMIM:208085 |
| Vaginal Atresia |
|
Vaginal hematocele, Uterus didelphys, Vaginal atresia, Transverse vaginal septum, Abnormality of ... |
ORPHA:65681 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart, Micrognathia |
OMIM:601348 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Depressed nasal ridge, Non-midline cleft lip, Bilateral cleft lip and palate, Tooth agenesis, Men... |
ORPHA:2003 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Malar flattening, Underdeveloped nasal alae, Truncus arteriosus |
OMIM:611867 |
| Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement |
OMIM:115210 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Patent ductus arteriosus, Atrial septal defect, Omphalocele, Vascular ring, Ven... |
OMIM:601927 |
| Diabetic Embryopathy |
|
Tetralogy of Fallot, Ureteral duplication, Renal hypoplasia/aplasia, Micropenis, Hydronephrosis, ... |
ORPHA:1926 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial... |
OMIM:601493 |
| Partial Chromosome Y Deletion |
|
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Decreased te... |
ORPHA:1646 |
| Deafness, Autosomal Dominant 41 |
|
Progressive sensorineural hearing impairment, Tinnitus, Hearing impairment |
OMIM:608224 |
| Holoprosencephaly 11 |
|
Agenesis of corpus callosum, Cleft lip, Microcephaly, Holoprosencephaly, Cleft palate |
OMIM:614226 |
| Mmep Syndrome |
|
Microphthalmia, Ventricular septal defect, Mandibular prognathia, Cryptorchidism |
ORPHA:3434 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Cryptorchidism, Congenital diaphragmatic hernia, Micrognathia, Abnormality o... |
ORPHA:1166 |
| Nephrotic Syndrome, Type 16 |
|
Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
| Glycogen Storage Disease 0, Muscle |
|
Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiomyopathy, Left atrial enla... |
OMIM:611556 |
| Truncus Arteriosus |
|
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... |
ORPHA:3384 |
| Mucocutaneous Ulceration, Chronic |
|
Vaginal mucosal ulceration |
OMIM:618287 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Hepatomegaly, Situs inversu... |
OMIM:615415 |
| Congenital Hydrocephalus |
|
Abnormal cortical gyration, Colpocephaly, Bulbous nose, Small cerebral cortex, Ventriculomegaly, ... |
ORPHA:2185 |
| Trisomy 1Q |
|
Anophthalmia, Patent ductus arteriosus, Cryptorchidism, Hydronephrosis, Congenital diaphragmatic ... |
ORPHA:261344 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Depressed nasal... |
ORPHA:488635 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Intrauterine growth retardation, Depressed nasal ridge, Respiratory failure, Micrognathia, Dyspne... |
ORPHA:1832 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Congenital adrenal hyperplasia, Clitoral hypertrophy, Hydroce... |
ORPHA:96181 |
| Asbestos Intoxication |
|
Hypoxemia, Late inspiratory crackles, Diffuse reticular or finely nodular infiltrations, Abnormal... |
ORPHA:2302 |
| Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Restrictive... |
OMIM:613424 |
| Thanatophoric Dysplasia Type 2 |
|
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Abnormality of the kidney, Ventriculom... |
ORPHA:93274 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Primary microcephaly, Respi... |
ORPHA:171703 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short 5th metacarpal, 11 pairs of ribs, Pulmonic stenosis, Anterior open-bite malocclusion, Short... |
OMIM:617877 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect |
OMIM:614474 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... |
OMIM:614779 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Renal tubular acidosis, Nephrocalcinosis, Nephrogenic diabetes insipidus, Ventricular septal defe... |
OMIM:613404 |
| Adams-Oliver Syndrome 6 |
|
Renal hypoplasia, Foot oligodactyly, Ventricular septal defect, Truncus arteriosus |
OMIM:616589 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity |
OMIM:601382 |
| Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
| Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Cerebral cortical atro... |
ORPHA:1164 |
| Band Heterotopia |
|
Agenesis of corpus callosum, Ventriculomegaly, Subcortical band heterotopia, Hydrocephalus, Polym... |
OMIM:600348 |
| 46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Small scrotum, Perineal hypospadias, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia, ma... |
ORPHA:753 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal spaced incisors, Broad nasal tip, Short philtrum, Anophthalmia, Bulbous nose, Occipital ... |
ORPHA:411986 |
| Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Cryptorchidism, Decreased serum testosterone concentration, Decreased testicular size, Retractile... |
ORPHA:163976 |
| Deafness, Autosomal Dominant 50 |
|
Progressive hearing impairment, Sensorineural hearing impairment, Progressive sensorineural heari... |
OMIM:613074 |
| Non-Syndromic Genetic Deafness |
|
High-frequency hearing impairment, Low-frequency sensorineural hearing impairment, Abnormal speec... |
ORPHA:87884 |
| Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria |
OMIM:616032 |
| Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria |
OMIM:301028 |
| Nephrotic Syndrome, Type 17 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... |
OMIM:618176 |
| Nephrotic Syndrome, Type 19 |
|
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Renal cyst, Tricuspid atresia, Atrial septal defect, Partial anomalous pulmo... |
OMIM:617478 |
| Meckel Syndrome, Type 7 |
|
Hepatosplenomegaly, Multiple glomerular cysts, Patent ductus arteriosus, Pancreatic cysts, Atrial... |
OMIM:267010 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect |
OMIM:212090 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Respiratory failure, 3-Methylglutaconic acid... |
OMIM:617248 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... |
OMIM:610921 |
| Aorta Coarctation |
|
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... |
ORPHA:1457 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Achilles tendon contracture, Abnormal macrophage morphology, Increased endomysial connective tiss... |
ORPHA:353 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... |
ORPHA:206546 |
| 22Q11.2 Duplication Syndrome |
|
Tetralogy of Fallot, Depressed nasal ridge, Hydronephrosis, Micrognathia, Hypoplastic left heart,... |
ORPHA:1727 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar dysplasia, Anteverted nares, Dilated fourth ventricle, Cerebellar hypoplasia, Open mou... |
OMIM:617751 |
| Alg13-Cdg |
|
Anteverted nares, Long philtrum, Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Double Outlet Right Ventricle |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta, Hypo... |
ORPHA:3426 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebellar hypoplasia, Respiratory failure, Ventriculomegaly, Micrognathia, Respiratory insuffici... |
OMIM:618291 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Distal Monosomy 13Q |
|
Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Aplasia/Hypoplasia affecting the eye, Mic... |
ORPHA:1590 |
| Trisomy 13 |
|
Anophthalmia, Abnormality of the ureter, Patent ductus arteriosus, Hernia, Atrial septal defect, ... |
ORPHA:3378 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Chronic rhinitis, Dextrocardia, Situs inversus totalis, Right aortic arch, Goiter |
OMIM:617577 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
| Meacham Syndrome |
|
Accessory spleen, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Patent ductus ... |
OMIM:608978 |
| Non-Functioning Pituitary Adenoma |
|
Diabetes insipidus, Panhypopituitarism, Central adrenal insufficiency, Adrenocorticotropin defici... |
ORPHA:91349 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Stage 5 chr... |
OMIM:616818 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... |
OMIM:619702 |
| Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease |
OMIM:613944 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Anteverted nares, Rhizomelia, Hydronephrosis, Cryptorchidism, Wide nasal bridge, Micrognathia, An... |
OMIM:611209 |
| Pseudovaginal Perineoscrotal Hypospadias |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, male, Bifid scrotum, Abnor... |
OMIM:264600 |
| Megabladder, Congenital |
|
Multiple glomerular cysts, Patent ductus arteriosus, Atrial septal defect, Left ventricular nonco... |
OMIM:618719 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Umbilical hernia, Elbow flexion contracture, Wide nasal bridge, Micrognathia, Knee flexion contra... |
OMIM:616266 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Wide nas... |
ORPHA:1908 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619613 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplastic nasal septum, Conotruncal defect, Aplasia/hypoplasia involving bones of the lower lim... |
ORPHA:40366 |
| Renal Failure, Progressive, With Hypertension |
|
Proteinuria, Nephritis, Microscopic hematuria, Renal insufficiency, Stage 5 chronic kidney disease |
OMIM:161900 |
| Idiopathic Bronchiectasis |
|
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... |
ORPHA:60033 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect |
OMIM:607941 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... |
OMIM:616002 |
| Hydrolethalus |
|
Anophthalmia, Bifid uvula, Agenesis of corpus callosum, Anencephaly, Unilateral cleft lip, Microp... |
ORPHA:2189 |
| Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... |
OMIM:619665 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
| Hernia, Double Inguinal |
|
Inguinal hernia |
OMIM:142350 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Renal agenesis, Micropenis, Hydronephrosis, Cryptorchidism, Macroglossia, HbH hemoglobin, Absent ... |
OMIM:301040 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... |
OMIM:619201 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Decreased circ... |
OMIM:228300 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Anteverted nares, Joint contracture of the hand, Atrial septal defect, Cryptorchidism, Wide nasal... |
ORPHA:352490 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... |
OMIM:601894 |
| Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Proteinuria |
OMIM:189800 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Pulmonary artery hy... |
OMIM:616749 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
| 2p15-16.1 microdeletion syndrome |
|
Camptodactyly of finger, Hydronephrosis, Optic disc hypoplasia |
DECIPHER:70 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... |
ORPHA:90794 |
| Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... |
OMIM:603965 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
| Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
| Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular dilatation, Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis... |
OMIM:253700 |
| Classic Multiminicore Myopathy |
|
Right ventricular hypertrophy, Congenital muscular dystrophy, Muscle fiber atrophy, Multiple join... |
ORPHA:324604 |
| Ritscher-Schinzel Syndrome 1 |
|
Tetralogy of Fallot, Missing ribs, Atrial septal defect, Hydronephrosis, Double outlet right vent... |
OMIM:220210 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Micropenis, Microphthalmia, Right ventricular hypertro... |
ORPHA:335 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Cerebral atrophy, Pneumonia, Agenesis of corpus callosum, Hypoplastic hippocampus, Ventriculomega... |
ORPHA:85179 |
| Atypical Hemolytic Uremic Syndrome |
|
Abnormal lactate dehydrogenase level, Proteinuria, Hematuria, Acute kidney injury |
ORPHA:2134 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Cardiomyopathy, Mitral valve prolapse |
OMIM:614676 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Decreased serum testosterone concentration, Increased circulating gonadotropin le... |
OMIM:300869 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Abnormal sperm morphology, Female hypogon... |
ORPHA:52901 |
| Focal Segmental Glomerulosclerosis 10 |
|
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... |
OMIM:256020 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Increased serum testosterone level, Ovarian cyst, Enlarged polycystic o... |
ORPHA:64739 |
| 46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... |
OMIM:278850 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis, Decreased testicular size |
OMIM:146110 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Absent nares, Agenesis of corpus callosum, Aplasia/Hypoplasia involving the nose, Hypoplasia of p... |
ORPHA:990 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... |
OMIM:615779 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Abnormal corpus callosum morphology, Abnormal caudate nucleus morphology, Age... |
ORPHA:300573 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum, Hydrocephalus |
OMIM:166990 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Hypoxemia, Cr... |
OMIM:610978 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Respiratory in... |
OMIM:616081 |
| Fanconi Renotubular Syndrome 5 |
|
Emphysema, Glycosuria, Proteinuria, Lung adenocarcinoma, Tubulointerstitial fibrosis, Aminoacidur... |
OMIM:618913 |
| Transient Neonatal Diabetes Mellitus |
|
Diabetic ketoacidosis, Hypothyroidism, Abnormality of the kidney, Macroglossia, Maturity-onset di... |
ORPHA:99886 |
| Recombinant Chromosome 8 Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Cryptorchidi... |
OMIM:179613 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cryptorchidism, Hydronephrosis, Narrow nose, Micrognathia, Inguinal hernia, Short nose, Patent fo... |
OMIM:618454 |
| Scimitar Syndrome |
|
Tricuspid atresia, Hernia, Pulmonary artery hypoplasia, Dextrocardia, Double outlet right ventric... |
ORPHA:185 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Atrial septal defect, Multicystic kidney dysplasia, Cardiomyopa... |
ORPHA:1909 |
| Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... |
OMIM:615008 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele |
OMIM:258320 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Micrognathia, Depressed nasal bridge, Ventricular septal defect, Short ... |
ORPHA:261120 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele,... |
ORPHA:1528 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Cerebral atrophy, Agenesis of corpus callosum, Uraciluria, Microphthalmia, Microcephaly |
OMIM:274270 |
| Sonoda Syndrome |
|
Depressed nasal bridge, Ventricular septal defect |
OMIM:270460 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Tetralogy of Fallot, Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial sept... |
OMIM:108900 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Small thenar eminence, Patent foramen ovale, Renal hypoplasia, Joint contracture of the 5th finge... |
OMIM:618914 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Glycosuria, Inguinal hernia, Ventricular septal defect, Diabetes mellitus, Interrupted aortic arc... |
OMIM:600001 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar hypoplasia, Microphthalmia, Microcephaly, Hypoplasia of the brainstem, Cortical dyspla... |
OMIM:615771 |
| Feingold Syndrome Type 1 |
|
Horseshoe kidney, Tricuspid atresia, Patent ductus arteriosus, Hydronephrosis, Tricuspid stenosis... |
ORPHA:391641 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... |
OMIM:615436 |
| Velocardiofacial Syndrome |
|
Tetralogy of Fallot, Bulbous nose, Underdeveloped nasal alae, Cryptorchidism, Inguinal hernia, Hy... |
OMIM:192430 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hypothyroidism, Nephrotic syndrome, Hepatomegaly, Myopathy, Cardiomyopathy, Cardiomegaly, Left ve... |
OMIM:617713 |
| Microgastria-Limb Reduction Defects Association |
|
Absent thumb, Unilateral renal agenesis, Absent gallbladder, Hypoplasia of the ulna, Anophthalmia... |
OMIM:156810 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibroelastosis, Cardiomyocyte... |
OMIM:612158 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Micropenis, Hypoplasia of penis, Hypogonadism |
ORPHA:85274 |
| Lissencephaly 3 |
|
Agyria, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Lissencephaly, Hypoplasia of... |
OMIM:611603 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Respiratory failure, Wide nasal bridge, Centr... |
ORPHA:168486 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, T... |
ORPHA:2872 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... |
OMIM:613237 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Renal agenesis, Agenesis of corpus callosum, Bulbous nose, Cerebellar hypoplasia, Ventriculomegal... |
OMIM:617090 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Agenesis of corpus callosum, Patent ductus arteriosus, Hypoplasia of penis, Microph... |
ORPHA:77298 |
| Tricuspid Atresia |
|
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... |
ORPHA:1209 |
| Emanuel Syndrome |
|
Unilateral renal agenesis, Multiple joint contractures, Patent ductus arteriosus, Delayed eruptio... |
ORPHA:96170 |
| Cardiomyopathy, Dilated, 1Kk |
|
Ventricular septal hypertrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventric... |
OMIM:615248 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agyria, Cerebellar hypoplasia, Hypoplasia of the pons, Ventriculomegaly, Death in childhood, Micr... |
OMIM:613153 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short 5th metacarpal, Patent ductus arteriosus, Pseudocoarctation of the aorta, Bicuspid aortic v... |
OMIM:604381 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria |
OMIM:607832 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Cryptorchidism, Dextrocardia, Coarctation of aorta, Micrognathia, Inguinal hern... |
OMIM:616145 |
| Testicular Regression Syndrome |
|
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... |
ORPHA:983 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Micrognathia, Omphalocele, Ventricular septal defect, Torticollis, Cardiomegaly... |
OMIM:617022 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Patent ductus arteriosus, Hypoplasia of penis, Micrognathia, Abnormality of the upper urinary tra... |
ORPHA:2547 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Fron... |
OMIM:614039 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Short palm, Patent ductus arteriosus, Micropenis, Renal hypoplasia, Cryptorchidis... |
ORPHA:171839 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Ventriculomegaly, Micr... |
OMIM:608716 |
| Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Cerebral atrophy, Agenesis of corpus callosum, Bulbous nose, Microcephaly, Simplified gyral patte... |
OMIM:618492 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Pulmonary infiltrates, ... |
ORPHA:79126 |
| Cardiac Diverticulum |
|
Aplasia/Hypoplasia of the sternum, Diastasis recti, Tricuspid atresia, Pulmonary artery hypoplasi... |
ORPHA:1686 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia |
OMIM:619170 |
| Bdv Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619326 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Short 5th metacarpal, Bicuspid aortic valve, Patent ductus arteri... |
ORPHA:228190 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Cryptorchidism, Decreased serum testosterone concentration, Decreased testicular size, Male hypog... |
ORPHA:163971 |
| Monosomy 18P |
|
Short philtrum, Hypodontia, Carious teeth, Wide nasal bridge, Microcephaly, Microphthalmia, Holop... |
ORPHA:1598 |
| Lissencephaly, X-Linked, 1 |
|
Agyria, Agenesis of corpus callosum, Micropenis, Lissencephaly, Pachygyria, Death in infancy |
OMIM:300067 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Frontoparietal c... |
OMIM:610031 |
| 49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Renal hypoplasia/aplasia, Depressed nasal ridge, Asthma, Pulmonary emb... |
ORPHA:96264 |
| Cerebrooculonasal Syndrome |
|
Hydrocephalus, High palate, Narrow palate, Anophthalmia, Encephalocele, Solitary median maxillary... |
OMIM:605627 |
| Myofibrillar Myopathy 10 |
|
EMG: myopathic abnormalities, Ankle flexion contracture, Knee flexion contracture, Flexion contra... |
OMIM:619040 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... |
OMIM:618164 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Abnorm... |
ORPHA:251510 |
| Microform Holoprosencephaly |
|
Renal agenesis, Intrauterine growth retardation, Agenesis of corpus callosum, Asthma, Panhypopitu... |
ORPHA:280200 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Diastasis recti, Dysplastic tricuspid valve, Hydronephrosis, Micrognathia, Hypoplastic left heart... |
OMIM:265380 |
| Focal Segmental Glomerulosclerosis 6 |
|
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Focal ... |
OMIM:614131 |
| Distal Monosomy 7Q36 |
|
Bulbous nose, Non-midline cleft lip, Microcephaly, Holoprosencephaly, Cleft palate, Wide mouth |
ORPHA:1636 |
| Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Nephrotic syndrome, Jaundice |
ORPHA:60 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Micropenis, Cerebellar hypoplasia, Respiratory failure, Ventriculomegaly, Microcephaly, Cerebral ... |
ORPHA:370968 |
| Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, Inguinal hernia,... |
OMIM:616028 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Increased urine succinate level, Hepatomegaly, Ventricular hypertrophy |
OMIM:619048 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Ovarian cyst, Male... |
ORPHA:90793 |
| Holoprosencephaly 3 |
|
Central diabetes insipidus, Single naris, Bifid uvula, Solitary median maxillary central incisor,... |
OMIM:142945 |
| 3Q13 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Wide nasal bridge, Hypoplasia of penis, Abnormality of the urinary s... |
ORPHA:1621 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Acromesomelia, Anteverted nares, Patent foramen ovale, Patent ductus arteriosus, Cryptorchidism, ... |
ORPHA:500159 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy |
OMIM:601494 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism |
ORPHA:1074 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Micropenis, Microcephaly, Holoprosencephaly, Agenesis of corpus callosum |
OMIM:610680 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Atrial septal defect, Abnormally large globe, Knee flexion contracture, ... |
OMIM:603387 |
| Ventriculomegaly And Arthrogryposis |
|
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum, Micrognathia |
OMIM:619501 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
High palate, Short philtrum, Agenesis of corpus callosum, Ventriculomegaly, High, narrow palate, ... |
OMIM:615433 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Anophthalmia, Bifid uvula, Agenesis of corpus callosum, Cerebellar hy... |
ORPHA:899 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Left ventricular hypertrophy, Flexion contracture, Abnormal renal corticomedulla... |
OMIM:616733 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Micrognathia, Spina bifida, Ventricular septal defect, Mandibular prognat... |
ORPHA:508498 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
| Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria |
OMIM:617609 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Atrial septal defect, Micrognathia, Depressed nasal bridge, Ventricular sept... |
ORPHA:1913 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Dilation of lateral ventricles, Anteverted nares, Polymicrogyria, Wide mouth |
OMIM:300982 |
| Sinoatrial Node Dysfunction And Deafness |
|
Hearing impairment |
OMIM:614896 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Bilateral cleft lip and palate, Anterior encephalocele, Absent septum pellucidum... |
OMIM:601357 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Short hallux, Wide nasal brid... |
OMIM:239850 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Atrial septal defect, Convex nasal ridge, Micromelia, Umbilical hernia... |
ORPHA:1035 |
| Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
| Primary Membranoproliferative Glomerulonephritis |
|
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... |
ORPHA:54370 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... |
OMIM:610489 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613874 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... |
ORPHA:66628 |
| Primary Ciliary Dyskinesia |
|
Airway obstruction, Chronic rhinitis, Nasal congestion, Anomalous pulmonary venous return, Respir... |
ORPHA:244 |
| Triploidy |
|
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia af... |
ORPHA:3376 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
| Endocardial Fibroelastosis |
|
Cryptorchidism |
OMIM:226000 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... |
ORPHA:99050 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Pallister-Hall-Like Syndrome |
|
Hypothalamic hamartoma, Occipital encephalocele, Micropenis, Anterior hypopituitarism, Micrognath... |
OMIM:241800 |
| N Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:2608 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Congenital muscular dystrophy, Micropenis, Cryptorchidism, Muscular dystroph... |
OMIM:613156 |
| Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Abnormal testis morphology, Increased serum testosterone level, Ab... |
ORPHA:562 |
| Fryns Syndrome |
|
Tetralogy of Fallot, Abnormal aortic arch morphology, Cryptorchidism, Hydronephrosis, Wide nasal ... |
ORPHA:2059 |
| Agnathia-Otocephaly Complex |
|
Agenesis of corpus callosum, Tracheomalacia, Micrognathia, Mandibular aplasia, Respiratory distre... |
OMIM:202650 |
| Hypocomplementemic Urticarial Vasculitis |
|
Emphysema, Restrictive ventilatory defect, Airway obstruction, Hematuria, Proteinuria, Angioedema... |
ORPHA:36412 |
| Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Pulmonary infiltrates, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalve... |
OMIM:612387 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Flared nostrils, Wide nasal b... |
OMIM:312170 |
| Acrocardiofacial Syndrome |
|
Tetralogy of Fallot, Atrial septal defect, Cryptorchidism, Hyperthyroidism, Wide nasal bridge, Hy... |
ORPHA:2008 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Recurrent upper respiratory tract infections, Patent ductus arteriosus, Atrial sep... |
OMIM:619769 |
| Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Anteverted nares, Patent ductus arteriosus, Right ventricular hypertrophy |
OMIM:613623 |
| Fanconi Renotubular Syndrome 1 |
|
Glycosuria, Hypokalemia, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, R... |
OMIM:134600 |
| Ring Chromosome Y Syndrome |
|
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:261529 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Simp... |
OMIM:619302 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Monocytosis, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Cryptorc... |
OMIM:612541 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria, Wide nasal bridge |
OMIM:614870 |
| Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Frontal encephalocele... |
OMIM:218670 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Renal agenesis, Muscular ventricular septal defect, Choanal atresia, S... |
OMIM:619227 |
| Mungan Syndrome |
|
Perimembranous ventricular septal defect, Renal hypoplasia, Vesicoureteral reflux, Pulmonic stenosis |
OMIM:611376 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Agenesis of corpus callosum, Bulbous nose, Parietal cortical atrophy, Micrognathia, Death in chil... |
OMIM:618766 |
| Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Congenital diaphragmatic hernia, Omphalocele, Depressed nasal bridge, Ventricular se... |
ORPHA:2143 |
| Warburg Micro Syndrome 1 |
|
Cerebral atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Perisylvian polymicrogyria,... |
OMIM:600118 |
| Ovarian Dysgenesis 2 |
|
Gonadal hypoplasia, Hypergonadotropic hypogonadism, Abnormality of the uterus, Premature ovarian ... |
OMIM:300510 |
| Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema, Wheezing |
OMIM:613490 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Recurrent bronchopulmonary infections, Death in infancy, Agenesis of corpus callosum |
ORPHA:85334 |
| Mckusick-Kaufman Syndrome |
|
Rectovaginal fistula, Cryptorchidism, Vaginal atresia, Transverse vaginal septum, Vesicovaginal f... |
OMIM:236700 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis, Hydrocephalus, Apnea, D... |
OMIM:300864 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia |
OMIM:191830 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon, Microcephaly, Holoprosencephaly, Cleft palate, Median cleft lip |
ORPHA:2165 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Tetralogy of Fallot, Hypoplasia of the ulna, Absent radius, Atrial septal defect, Wide nasal brid... |
OMIM:600123 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hiatus hernia, Renal agenesis, Anophthalmia, Horseshoe kidney, Phocomelia, Renal hypoplasia/aplas... |
ORPHA:2538 |
| Masa Syndrome |
|
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus |
OMIM:303350 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueduct... |
ORPHA:2182 |
| Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Decrease... |
ORPHA:179494 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Cerebral atrophy, Lacticaciduria, Methylmalonic aciduria, Intrauterine growth retardation, Respir... |
OMIM:245400 |
| Amish Lethal Microcephaly |
|
Agenesis of corpus callosum, Ventriculomegaly, Micrognathia, Microcephaly, Lissencephaly, Spina b... |
ORPHA:99742 |
| Pituicytoma |
|
Central diabetes insipidus, Hypogonadotropic hypogonadism, Abnormality of circulating adrenocorti... |
ORPHA:251623 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Limb-girdle muscle weakness, Generalized amyotrophy, Muscular dystrophy, Increased variability in... |
ORPHA:86812 |
| Weiss-Kruszka Syndrome |
|
Anteverted nares, Dextrotransposition of the great arteries, Ventricular septal defect, Bicuspid ... |
OMIM:618619 |
| Schizencephaly |
|
Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum |
OMIM:269160 |
| Premature Ovarian Failure 8 |
|
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ovarian neoplasm, Elev... |
OMIM:615723 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
| Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease |
OMIM:161950 |
| Imerslund-Grasbeck Syndrome 1 |
|
Paresthesia, Somatic sensory dysfunction, Proteinuria |
OMIM:261100 |
| 49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, Micropenis, Decreased serum testos... |
ORPHA:261534 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Patent foramen ovale, Bulbous nose, Arthrogryposis-like hand anomaly, Cryptorchidism, Wide nasal ... |
ORPHA:369891 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
| Lymphangioleiomyomatosis |
|
Emphysema, Chylothorax, Renal angiomyolipoma, Restrictive ventilatory defect, Abnormal urinary co... |
ORPHA:538 |
| Bowen Syndrome Of Multiple Malformations |
|
Agenesis of corpus callosum, Hypospadias, Micrognathia, Death in childhood |
OMIM:211200 |
| Frontonasal Dysplasia 1 |
|
Broad nasal tip, Agenesis of corpus callosum, Cranium bifidum occultum, Pericallosal lipoma, Wide... |
OMIM:136760 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... |
OMIM:615294 |
| Holoprosencephaly |
|
Proteinuria, Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Dandy-W... |
ORPHA:2162 |
| Tangier Disease |
|
Facial diplegia, Splenomegaly, Hepatomegaly, Coronary artery atherosclerosis, Atherosclerosis, Di... |
OMIM:205400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Agyria, Hypoplasia of the pyramidal tract, Agenesis of corpus callosum, Cerebellar hypoplasia, Mi... |
OMIM:253800 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Renal agenesis, Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Pulmonary artery hypoplasi... |
ORPHA:2326 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Bulbous nose, Atrial septal defect, Malar flattening, Ventricular septal defect, Short toe, Campt... |
OMIM:613458 |
| Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Nephronophthisis, Hematuria, Proteinuria, Tubulointerstitial nephritis, Elevated hepa... |
OMIM:614817 |
| Burn-Mckeown Syndrome |
|
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Short nose, Abnormal cardia... |
ORPHA:1200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Renal cyst, Agenesis of corpus callosum, Occipital encephalocele, Hydronephrosis, Anencephaly, Mi... |
OMIM:615287 |
| Fixed Subaortic Stenosis |
|
Patent ductus arteriosus, Bacterial endocarditis, Pulmonic stenosis, Coarctation of aorta, Abnorm... |
ORPHA:3092 |
| Cofs Syndrome |
|
Cerebral calcification, Intrauterine growth retardation, Cutaneous photosensitivity, Wide nasal b... |
ORPHA:1466 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Cerebral atrophy, Intrauterine growth retardation, Respiratory failure, Focal T2 hyperintense tha... |
OMIM:619057 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Arthrogryposis multiplex congenita, Micrognathia |
OMIM:616570 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Cryptorchidism, Microphallus, Micropenis |
OMIM:218450 |
