| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
| 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 |
| 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 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... |
ORPHA:453533 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Recurrent upper respiratory tract infections, Recurrent pneumonia, Obesit... |
OMIM:614962 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| 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 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
| 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 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| 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 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Immunodeficiency 48 |
|
Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Pneumonia, Absence of CD8-posi... |
OMIM:269840 |
| Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:618204 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| 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 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... |
OMIM:301101 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... |
ORPHA:133 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... |
OMIM:245590 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Clu... |
OMIM:619611 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... |
OMIM:610913 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Diabetes Insipidus, Neurohypophyseal |
|
Hypertelorism, Wide nose, Short nose, Long philtrum |
OMIM:125700 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Developmental And Epileptic Encephalopathy 87 |
|
Prominent nose, Hypertelorism, Bulbous nose, Hypotelorism, Wide mouth, High palate, Widely spaced... |
OMIM:618916 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorc... |
OMIM:613544 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Optic disc hypoplasia, Depressed nasal bridge, Wide nasal bridge, Aspiration pneumonia, Death in ... |
OMIM:609528 |
| Non-Syndromic Metopic Craniosynostosis |
|
Wide nasal bridge, Hypotelorism |
ORPHA:3366 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Hypertelorism, Open mouth, Bulbous nose, ... |
OMIM:613604 |
| Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Bilateral choanal atresia, Short nose, ... |
ORPHA:1200 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| 17Q21.31 Microduplication Syndrome |
|
Epicanthus, Anteverted nares, Abnormality of the dentition, Synophrys, High palate, Short philtru... |
ORPHA:217340 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thrive, L... |
OMIM:618495 |
| Amyotrophy, Hereditary Neuralgic |
|
Epicanthus, Depressed nasal bridge, Narrow mouth, Cleft palate, Hypotelorism, Upslanted palpebral... |
OMIM:162100 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... |
OMIM:613953 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysplasia, Clinod... |
ORPHA:71289 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
| Trigonocephaly 1 |
|
Epicanthus, High, narrow palate, Synophrys, Wide nasal bridge, Hypotelorism, Upslanted palpebral ... |
OMIM:190440 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Epicanthus, Small for gestational age, Wide nasal bridge, Hypotelorism, High palate, Broad alveol... |
OMIM:314320 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Desquamative in... |
OMIM:615952 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Smooth philtrum, Telecanthus, Small for gestational age, Prominent nasal bridge, Underdeveloped n... |
OMIM:611091 |
| Immunodeficiency 40 |
|
Hepatomegaly, Rectal fistula, Respiratory tract infection, Recurrent pneumonia, Eosinophilic gran... |
OMIM:616433 |
| Schaaf-Yang Syndrome |
|
Flexion contracture, Micropenis, Short stature, Tapered finger, Cryptorchidism, Obesity, Short pa... |
OMIM:615547 |
| 14Q11.2 Microdeletion Syndrome |
|
Epicanthus, Depressed nasal bridge, Exaggerated cupid's bow, Highly arched eyebrow, Hypertelorism... |
ORPHA:261120 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Epicanthus, Small for gestational age, Wide nasal bridge, Hypotelorism, Broad secondary alveolar ... |
ORPHA:3369 |
| Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglo... |
ORPHA:449395 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Lymphoid Interstitial Pneumonia |
|
Cor pulmonale, Clubbing, Lymphocytic interstitial pneumonia, Aortic valve stenosis |
OMIM:247610 |
| Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal... |
OMIM:606407 |
| Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
ORPHA:254516 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Polycystic ovaries, Hem... |
OMIM:608709 |
| Frontoocular Syndrome |
|
Epicanthus, Prominent nasal bridge, Narrow philtrum, Hypotelorism, Upslanted palpebral fissure, P... |
OMIM:605321 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial n... |
ORPHA:37042 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Upslanted palpebral fissure, Epicanthus, Iris cyst, Ptosis |
OMIM:620086 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
| Hadziselimovic Syndrome |
|
Epicanthus, Anteverted nares, Prominent nasal bridge, Thick lower lip vermilion, Hypotelorism, Hi... |
OMIM:612946 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increased body weigh... |
ORPHA:398069 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Mogs-Cdg |
|
Respiratory distress, Apnea, External genital hypoplasia, Edema, Cardiomegaly, Polyhydramnios, Hi... |
ORPHA:79330 |
| Non-Distal Duplication 13Q |
|
Abnormality of the dentition, Abnormal eyelash morphology, Cryptorchidism, Synophrys, Hypoteloris... |
ORPHA:1702 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Sandal gap, Ataxia, Highly arched eyebrow, Short stature, Abn... |
ORPHA:228402 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Cleft upper lip, Hypertelorism, Wide nasal bridge, Hypotelorism, Downturned corners of mouth, Sho... |
OMIM:613192 |
| Coxopodopatellar Syndrome |
|
Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp... |
ORPHA:1509 |
| Immunodeficiency 104 |
|
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopen... |
OMIM:608971 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Smooth philtrum, Death in infancy, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge... |
OMIM:618622 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Miscarriage, Female infertility |
OMIM:619176 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Trisomy 18P |
|
Telecanthus, Highly arched eyebrow, Underdeveloped nasal alae, Bilateral cryptorchidism, High, na... |
ORPHA:1715 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Dyspnea, Angioedema, Myocarditis, Hepatitis, Erythroderma, Thyr... |
ORPHA:139402 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Prader-Willi Syndrome |
|
Decreased muscle mass, Small scrotum, External genital hypoplasia, Decreased response to growth h... |
OMIM:176270 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| Benign Samaritan Congenital Myopathy |
|
Epicanthus, Hypertelorism, Abnormal respiratory system physiology, Wide nasal bridge, Narrow mout... |
ORPHA:324581 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Thin upper lip vermilion, Neonatal respiratory distress, ... |
OMIM:615042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... |
ORPHA:90795 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Irregular men... |
OMIM:615986 |
| Holoprosencephaly 5 |
|
Depressed nasal bridge, Anteverted nares, Hypertelorism, Deep philtrum, Synophrys, Orofacial clef... |
OMIM:609637 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
| Xk Aprosencephaly Syndrome |
|
Hypotelorism, Abnormal nostril morphology, Anal atresia, Narrow mouth |
ORPHA:3469 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
| Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Hypertelorism, Cryptorchidism, High palate, Everted lower lip vermilion, ... |
ORPHA:1695 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia,... |
OMIM:615524 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| 2Q23.1 Microduplication Syndrome |
|
Thin upper lip vermilion, Dental crowding, Highly arched eyebrow, Prominent nose, Abnormality of ... |
ORPHA:313947 |
| Giacheti Syndrome |
|
Hypotelorism |
OMIM:612917 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Epicanthus, Macrodontia, Obesity, High palate, Short nose |
OMIM:300577 |
| Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Prominent nasal bridge, Prominent nose, Hypertelorism, Cryptorchidism,... |
OMIM:300978 |
| Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Anosmia, Cleft palate, Primary am... |
OMIM:244200 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Cleft palate, Short nose |
ORPHA:2015 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Depressed nasal bridge, Hypogonadotropic hypogonadism, Cryptorchidism, Furrowed tongue, Hypotelor... |
ORPHA:1387 |
| Chromosome 5P13 Duplication Syndrome |
|
Epicanthus, Small for gestational age, Blepharophimosis, Hypertelorism, Bulbous nose, Wide nasal ... |
OMIM:613174 |
| Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, Exaggerated cupid... |
OMIM:617752 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Depressed nasal bridge, Eczema, Small for gestational age, Failure to thrive in infancy, Decrease... |
OMIM:617241 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Large for gestational age, Respiratory insufficie... |
ORPHA:2432 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... |
OMIM:253700 |
| Huntington Disease |
|
Abnormal libido, Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Weight loss, ... |
ORPHA:399 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... |
OMIM:267450 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... |
OMIM:147250 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Epicanthus, Telecanthus, Depressed nasal bridge, Prominent nasal bridge, Hypotelorism, Upslanted ... |
OMIM:618974 |
| Luscan-Lumish Syndrome |
|
Short stature, Aggressive behavior, Long nose, Shyness, Irregular menstruation, Advanced ossifica... |
OMIM:616831 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Glucose intolerance, Hepatic steatosis, Acne, Increased circulating cortis... |
ORPHA:189427 |
| Ogden Syndrome |
|
Apnea, Bicuspid aortic valve, Maternal diabetes, Abnormal eyelid morphology, Cardiomegaly, Microv... |
OMIM:300855 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating complemen... |
OMIM:615559 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Holoprosencephaly 4 |
|
Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Hyp... |
OMIM:142946 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, External genital hypoplasia, Short stature, Small hand, Obesity, S... |
ORPHA:177910 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
| Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... |
ORPHA:1906 |
| Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Postaxial foot polydactyly, Hypogonadism, Polydactyly, Polyph... |
OMIM:617119 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Pedal edema, Cardiorespiratory arrest, Weigh... |
ORPHA:188 |
| 1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypergonadotropic hypogonadism, Underdeveloped nasal alae, Broad nasal ti... |
ORPHA:250999 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... |
ORPHA:1802 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Broad-based gait, Ataxia, Urinary incontinence, Abnormal tendon morphology, Reduced sperm motilit... |
ORPHA:320391 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:619755 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Hyperinsulinemia, P... |
ORPHA:276580 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... |
ORPHA:324575 |
| Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Epicanthus, Failure to thrive, High palate, Hypotelorism |
OMIM:616281 |
| Chung-Jansen Syndrome |
|
Epicanthus, Anteverted nares, Hypertelorism, Cryptorchidism, Synophrys, Obesity, Upslanted palpeb... |
OMIM:617991 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Polyuria, Mesoaxial hand polydactyly, Dextrocardi... |
OMIM:615994 |
| Weyers Acrofacial Dysostosis |
|
Solitary median maxillary central incisor, Hypotelorism, Conical tooth |
OMIM:193530 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
| Whipple Disease |
|
Myositis, Anorexia, Uveitis, Pedal edema, Cough, Hypothyroidism, Infectious encephalitis, Hepatom... |
ORPHA:3452 |
| Schilbach-Rott Syndrome |
|
Epicanthus, Prominent nose, Long nose, Submucous cleft hard palate, Hypotelorism, Upslanted palpe... |
OMIM:164220 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, S... |
OMIM:612530 |
| Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, T... |
ORPHA:3261 |
| Erdheim-Chester Disease |
|
Hyperhidrosis, Cough, Hypogonadotropic hypogonadism, Ataxia, Abnormal pericardium morphology, Pul... |
ORPHA:35687 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Death in infancy, Failure to thrive, Autoimmune thr... |
OMIM:617514 |
| Pediatric-Onset Graves Disease |
|
Abnormal eyelid morphology, Thyrotoxicosis with diffuse goiter, Anti-thyroid peroxidase antibody ... |
ORPHA:525731 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Epicanthus, Depressed nasal bridge, Wide nasal bridge, Hypotelorism, High palate |
OMIM:615760 |
| Lead Poisoning |
|
Anorexia, Abnormal T cell morphology, Tubulointerstitial nephritis, Decreased male libido, Renal ... |
ORPHA:330015 |
| Holoprosencephaly 11 |
|
Cleft lip, Synophrys, Cleft palate, Hypotelorism, Proptosis, Thick eyebrow |
OMIM:614226 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Oligozoospermia, Azoospermia, Infertility, Type II diabetes mellitus, Hepatic... |
OMIM:615703 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Death in infancy, Failure to thrive in infancy, Synophrys, Pulmonary arterial hypertension, Deepl... |
OMIM:619064 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s... |
ORPHA:276575 |
| Melanocytic Nevus Syndrome, Congenital |
|
Anteverted nares, Narrow nasal ridge, Broad nasal tip, Hypertelorism, Deep philtrum, Everted lowe... |
OMIM:137550 |
| Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Hemorrhagic ovarian cyst, Splenic rupture, Volvulus, Clubbing of fingers, Left ventricu... |
ORPHA:335 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Decreased specific pneumococcal antibody level, G... |
OMIM:613496 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Abnormality of the denti... |
OMIM:300604 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Septo-optic dysplasia, Short stature, Anterior pituitary hypoplasia, Materna... |
ORPHA:3157 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Hypotelorism, Deeply set eye, Abnormality of the philtrum, Abnormality of the dentition |
ORPHA:276422 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B... |
ORPHA:400 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Brachydactyly, Small for gestational age, Ventricular septal defect, Cleft palate, Rig... |
OMIM:614261 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease... |
ORPHA:33543 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Anteverted nares, Dyspnea, Depressed nasal ridge, Gingival fibromatosis, Gi... |
ORPHA:1832 |
| Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Nephrocalcinosis, High palate, Fasting hypoglycemia, Atrial septal defe... |
ORPHA:769 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Highly arched eyebrow, Hypertelorism, Long phil... |
ORPHA:438178 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Ab... |
ORPHA:99886 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95513 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Mosaic Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, Lymphedema, High, narrow palate, Delayed early-childhood s... |
ORPHA:99228 |
| Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, Lymphedema, High, narrow palate, Delayed early-childhood s... |
ORPHA:99226 |
| Turner Syndrome |
|
Bicuspid aortic valve, Ectopic kidney, Lymphedema, High, narrow palate, Delayed early-childhood s... |
ORPHA:881 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Ectopic kidney, Lymphedema, High, narrow palate, Delayed early-childhood s... |
ORPHA:99413 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Depressed nasal bridge, Cryptorchid... |
ORPHA:432 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Hyp... |
OMIM:619736 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
| Pierpont Syndrome |
|
Smooth philtrum, Wide nose, Telecanthus, Broad nasal tip, Long upper lip, Cryptorchidism, Hyperte... |
OMIM:602342 |
| Lig4 Syndrome |
|
Epicanthus, Small for gestational age, Prominent nose, Cryptorchidism, Asthma, Wide nasal bridge,... |
OMIM:606593 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Malabsorption, Nephrogenic ... |
ORPHA:213 |
| Wolfram-Like Syndrome |
|
Diabetes mellitus, Abnormality of the upper urinary tract, Respiratory insufficiency, Glucose int... |
ORPHA:411590 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease... |
OMIM:613986 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... |
ORPHA:70578 |
| Distal Arthrogryposis Type 1 |
|
Camptodactyly of finger, Rocker bottom foot, Ulnar deviation of finger, Abnormal hip bone morphol... |
ORPHA:1146 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Highly arche... |
OMIM:614701 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Aplasia/Hypoplasia of fing... |
ORPHA:141152 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Apnea, Prominent nasal bridge, Narrow palate, Deeply set eye, Death in childhood, Lethargy, Failu... |
OMIM:611523 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidrosis, Hypoglyce... |
ORPHA:276556 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Anteverted nares, Small for gestational age, Flared nostrils, Wide nasal bridge, Apneic episodes ... |
OMIM:312170 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Anteverted nares, Cachexia, Hyp... |
ORPHA:884 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Bulbous nose, Hypotelorism, Oligodontia, Long palpebral fissure |
OMIM:618330 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Pgm3-Cdg |
|
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ... |
ORPHA:443811 |
| Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum |
ORPHA:46 |
| Wagro Syndrome |
|
Decreased testicular size, Proteinuria, Aggressive behavior, Obesity, Agitation, Downslanted palp... |
OMIM:612469 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid factor positive, Anorexia, Anti-thyroid peroxidase antibody positiv... |
ORPHA:49041 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla... |
OMIM:619858 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
| Joubert Syndrome 15 |
|
Retinal dystrophy, Exencephaly, Coloboma, Ambiguous genitalia, Micropenis, Retinopathy |
OMIM:614464 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Dehydration, Nephrocalcinosis, Aminoaciduria, Atrial septal defect, Nephrop... |
OMIM:208085 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
| Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Intermittent episodes of respiratory in... |
ORPHA:324604 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Synophrys, Wide nasal bridge, Narrow palpebral fissure, Broad eyebrow |
OMIM:618302 |
| Bloom Syndrome |
|
Bronchitis, Adipose tissue loss, Uveitis, Otitis media, Stomach cancer, Decreased circulating IgG... |
ORPHA:125 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
| Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi... |
OMIM:142669 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Anteverted nares, Hypertelorism, Depressed nasal ridge, Hypotelorism, Upslanted palpebral fissure... |
OMIM:618672 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Broad nasal tip, Hypertelorism, Obesity, Short nose, Downslanted pa... |
OMIM:613670 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
External genital hypoplasia, Convex nasal ridge, Polyphagia, Tibial bowing, High palate, Clinodac... |
ORPHA:251028 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Synophrys, Wide mouth, Truncal obesity, Deeply set eye, Everted lower l... |
ORPHA:2429 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Epicanthus, Sinusitis, Anteverted nares, Depressed nasal bridge, Pneumonia, Protruding tongue, Ma... |
OMIM:242860 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Epicanthus, Wide nose, Anteverted nares, Small for gestational age, Syn... |
ORPHA:391408 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Hepatomegaly, Death in infancy, Proteinuria, Ventricular septal defect, Nep... |
OMIM:613404 |
| Cranioectodermal Dysplasia |
|
Epicanthus, Anteverted nares, Abnormal dental enamel morphology, Abnormality of the dentition, Hy... |
ORPHA:1515 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ptosis, Ataxia, Urinary incontinence, Cardiomegaly, Limb ataxia, Cardiomyopathy, Impotence, Trunc... |
OMIM:105210 |
| Central Diabetes Insipidus |
|
Anorexia, Dehydration, Weight loss, Lethargy, Polydipsia, Failure to thrive, Diabetes insipidus, ... |
ORPHA:178029 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Death in infancy, Ventricular septal defect, Cryptorchidism, Neonatal death, M... |
OMIM:613730 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal pulmonary interstitial morphology, Pedal edema, Weight loss, Hypertrophic ... |
ORPHA:330001 |
| Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Hypoplasia of the maxil... |
OMIM:167730 |
| Wolfram Syndrome |
|
Central apnea, Recurrent urinary tract infections, Diabetes mellitus, Ataxia, Dysuria, Malabsorpt... |
ORPHA:3463 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
| Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Metaphyseal widening, Dehydration, Aminoacidu... |
OMIM:219800 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Hepatomegaly, Recurrent respiratory infections, Left atrial enlargement, Dyspnea, Righ... |
ORPHA:75249 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Maxillonasal Dysplasia, Binder Type |
|
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion |
OMIM:155050 |
| Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
| Thymoma |
|
Myositis, Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Anti-acetylc... |
ORPHA:99867 |
| Brooke-Spiegler Syndrome |
|
Nodular changes affecting the eyelids, Abnormality of the sublingual glands, Abnormality of the s... |
ORPHA:79493 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Absent eyebrow, Renal insufficiency, Membranoproliferative ... |
OMIM:137940 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
| Brucellosis |
|
Liver abscess, Rheumatoid factor positive, Anorexia, Bronchitis, Knee osteoarthritis, Hyperhidros... |
ORPHA:1304 |
| Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Autoimmunity, Hyperglycemia, Polydipsia, Polyphagia |
OMIM:222100 |
| 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 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Acne, Precocious puberty, In... |
ORPHA:786 |
| Pyruvate Dehydrogenase Deficiency |
|
Epicanthus, Hypertelorism, Dyspnea, Tachypnea, Wide nasal bridge, Upslanted palpebral fissure, Hi... |
ORPHA:765 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanth... |
OMIM:619644 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car... |
ORPHA:2791 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Increased circul... |
ORPHA:168563 |
| Systemic Lupus Erythematosus 16 |
|
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... |
OMIM:614420 |
| 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Simplified gyral pattern, Dysmetria, High palate, Chronic otitis... |
ORPHA:96121 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Neutropenia, Nephropathy, Intrauterine growth retardation, Nephrotic ra... |
ORPHA:1830 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
| 6P22 Microdeletion Syndrome |
|
Deeply set eye, Epicanthus, Abnormal palate morphology, Hypotelorism |
ORPHA:251046 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Broad nasal tip, Dental malocclusion, Hypotelorism, Widely-spaced maxil... |
OMIM:619719 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Immunodeficiency 13 |
|
Lymphopenia, Nasal polyposis, Recurrent pneumonia, Recurrent upper respiratory tract infections, ... |
OMIM:615518 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Micr... |
OMIM:615297 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| 2Q24 Microdeletion Syndrome |
|
Central apnea, Toe syndactyly, Small for gestational age, Camptodactyly of finger, Long fingers, ... |
ORPHA:1617 |
| Gaba-Transaminase Deficiency |
|
Lethargy, Downslanted palpebral fissures, Death in childhood |
OMIM:613163 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy, Sinusitis, Autoimmunity, Cough |
ORPHA:163703 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu... |
OMIM:613779 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Telecanthus, Hyperopic astigmatism, Hypoplasia of the maxilla, Crowded max... |
ORPHA:397973 |
| Postinfectious Vasculitis |
|
Rheumatoid factor positive, Anorexia, Gastrointestinal inflammation, Bacterial endocarditis, Acro... |
ORPHA:48435 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Atrial septal defec... |
OMIM:601186 |
| Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, ... |
OMIM:619468 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Broad nasal tip, Submucous cleft ha... |
OMIM:619680 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Synophrys, Gingiv... |
ORPHA:2025 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy |
OMIM:254120 |
| Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Large hands, Umbilic... |
OMIM:269700 |
| 14Q11.2 Microduplication Syndrome |
|
Epicanthus, Depressed nasal bridge, Highly arched eyebrow, Aggressive behavior, Hypothyroidism, O... |
ORPHA:261229 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Synophrys, Hypertrophy of the urinary bladder, High palate, Atrial septal defect, Recurrent aspir... |
ORPHA:280633 |
| 6Q16 Microdeletion Syndrome |
|
Broad-based gait, Anteverted nares, Depressed nasal bridge, Tapered finger, Almond-shaped palpebr... |
ORPHA:171829 |
| Perlman Syndrome |
|
Epicanthus, Anteverted nares, High, narrow palate, Cryptorchidism, Open mouth, Abnormal pancreas ... |
ORPHA:2849 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Lipodystrophy, Mesangial hyp... |
ORPHA:329918 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Epicanthus, Underdeveloped nasal alae, Almond-shaped palpebral fissure, Hypertelorism, Hypotelori... |
OMIM:300986 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey... |
OMIM:615873 |
| Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Prominent... |
ORPHA:363528 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance, Attention deficit hyperactivity disorder, Increased restin... |
ORPHA:369873 |
| Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares, Abnormal palate morphology |
ORPHA:1450 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Neoplasm of the stomach, Anorexia, Pituitary corticotropic cell adenoma, Pan... |
ORPHA:99889 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e... |
OMIM:619991 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Nodular pattern on pulmonary HRCT, ... |
ORPHA:99931 |
| Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
| Cushing Disease |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Recurrent cutan... |
ORPHA:96253 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Multiple pterygia, Micrognathia |
OMIM:601809 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Cardiomyopathy, Larg... |
OMIM:608594 |
| Hypotonia-Cystinuria Syndrome |
|
Epicanthus, Nephrolithiasis, Cystinuria, Growth delay, Failure to thrive, Polyphagia, Ptosis |
ORPHA:163690 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Edema, Cleft palate, Talipes equinovarus, Microphthalmia, Arthrogryposis mult... |
OMIM:616570 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi... |
ORPHA:289390 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... |
OMIM:619477 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Abnormal macrophage morphology, Calf muscle pseudohypertrophy, Achilles tendon ... |
ORPHA:353 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Pituitary dwarfism, Hyp... |
ORPHA:226307 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... |
ORPHA:199241 |
| Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Coloboma, Retinal dysplasia, Microphthalmia |
ORPHA:324416 |
| Idiopathic Achalasia |
|
Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia |
ORPHA:930 |
| Axenfeld-Rieger Syndrome |
|
Telecanthus, Hypoplasia of the maxilla, Abnormal anterior chamber morphology, Wide nasal bridge, ... |
ORPHA:782 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypertelorism, Depressed nasal rid... |
ORPHA:1529 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Epicanthus, Telecanthus, Depressed nasal bridge, Prominent nasal bridge, Highly arched eyebrow, N... |
OMIM:618828 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, External genital hypoplasia, Dilated cardiomyopathy, Hypogonadism, Atrial ... |
OMIM:615981 |
| 17P13.3 Microduplication Syndrome |
|
Wide nose, Hypertelorism, High palate, Narrow mouth, Short nose, Downslanted palpebral fissures |
ORPHA:217385 |
| Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... |
ORPHA:280200 |
| Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue |
ORPHA:71529 |
| Ritscher-Schinzel Syndrome 4 |
|
Hypertelorism, Cryptorchidism, Wide nasal bridge, Narrow palate, Hypotelorism, Wide mouth, Deeply... |
OMIM:619435 |
| Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
| 46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Arachnodactyly, Ataxia, Short stature, Increased c... |
ORPHA:243 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia... |
OMIM:611638 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Jaundice, Right atrial... |
ORPHA:57777 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... |
OMIM:127550 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Abnormality of the urethra, Intestinal perforation, Conjunctivitis, Cough, ... |
ORPHA:537 |
| Immunodeficiency 17 |
|
Recurrent respiratory infections, Death in infancy, Chronic oral candidiasis, Autoimmune hemolyti... |
OMIM:615607 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Short stature, Upslanted palpebral fissure, Growth delay, High palate, Hypogonadism, ... |
ORPHA:2528 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Oligozoospermia... |
ORPHA:91351 |
| Pde4D Haploinsufficiency Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Abnormal dental enamel morphology, Prominent no... |
ORPHA:439822 |
| Cofs Syndrome |
|
Death in infancy, Short stature, Camptodactyly of finger, Abnormal nasal morphology, Wide nasal b... |
ORPHA:1466 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... |
OMIM:619375 |
| Potocki-Shaffer Syndrome |
|
Epicanthus, Telecanthus, Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mout... |
OMIM:601224 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Arachnodactyly, Short stature, Minimal change glomerulonephritis, Stage 5 chronic ki... |
OMIM:301006 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, ... |
OMIM:115197 |
| Premature Ovarian Failure 12 |
|
Macular dystrophy, Microphthalmia, Primary amenorrhea |
OMIM:616947 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Epicanthus, Small for gestational age, Decreased response to growth ho... |
ORPHA:2980 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Short stature, Aggressive behavior, Hyperinsulinemia, Obesity, Impaired social interactions, Hype... |
ORPHA:329249 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas... |
ORPHA:110 |
| Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge, Hypertelorism |
OMIM:612563 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Proteinuria, Glomerulonephritis, Ataxia, Synophrys, Growth delay, Nephrotic syndrome... |
OMIM:619428 |
| Moebius Syndrome |
|
Respiratory distress, Abnormal nasopharynx morphology, Congenital fibrosis of extraocular muscles... |
OMIM:157900 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Lethargy, Failure to thri... |
OMIM:613561 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Prominent nose, Depressed nasal ridge, Short palm, Clinodactyly of the 5th finger, Micropenis, At... |
OMIM:156200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Respiratory insufficiency, Death in childhood |
OMIM:618224 |
| Parathyroid Carcinoma |
|
Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h... |
ORPHA:143 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Small for gestational age, Ventricular sep... |
ORPHA:860 |
| Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept... |
OMIM:618052 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Hypogonadism, Gait disturbance, Congenital muscular dystrophy, Abnorma... |
ORPHA:1875 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... |
ORPHA:454831 |
| Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Thin upper lip vermilion, Small for gestational age, Failure to thrive in infancy, Bulbous nose, ... |
OMIM:614104 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Epicanthus, Small for gestational age, Cryptorchidism, Hypotelorism, Downturned corners of mouth,... |
OMIM:616817 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:616428 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Tented upper lip vermilion, Dental crowding, Hypertelorism, Macroorchidism, Short nose, Open mouth |
OMIM:300143 |
| Man1B1-Cdg |
|
Epicanthus, Broad-based gait, Wide nose, Long eyebrows, Prominent nose, Sparse eyebrow, Periventr... |
ORPHA:397941 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... |
ORPHA:83451 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Epicanthus, Cataract, Sparse eyelashes, Telecanthus, Dental crowding, ... |
OMIM:257850 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen... |
OMIM:607594 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
High palate, Patent foramen ovale, Syndactyly, Hyperactivity, Ataxia, Depressed nasal bridge, Sho... |
ORPHA:369891 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Cough, Situs inversus totalis, Bronchiectasis, Decrease... |
OMIM:612444 |
| Chromosome 3Q29 Duplication Syndrome |
|
Abnormally large globe, Bulbous nose, Wide nasal bridge, Obesity, Blepharophimosis, Short nose, D... |
OMIM:611936 |
| White-Kernohan Syndrome |
|
Tented upper lip vermilion, Synophrys, Broad medial eyebrow, Hypotelorism, Anteriorly placed anus... |
OMIM:619426 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Adnp Syndrome |
|
Respiratory distress, Urinary incontinence, Oral-pharyngeal dysphagia, Abnormal finger morphology... |
ORPHA:404448 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Epicanthus, Anteverted nares, Long nose, Bulbous nose, Orofacial cleft, Hypotelorism, Deeply set ... |
ORPHA:261211 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Rocker bottom foot, Prominent nasal bridge, Coxa valga, Prominent nose... |
OMIM:214150 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Autoimmunity, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibo... |
ORPHA:79078 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Epicanthus, Hypospadias, Depressed nasal bridge, Cryptorchidism, Decreased circulating antibody l... |
OMIM:616910 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Anterior pituitary h... |
ORPHA:177907 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Minimal change glomerulonephritis, Pulmonary embolism, Respiratory tract ... |
ORPHA:567546 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes,... |
ORPHA:228396 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, Abnormal intestine morphology, ... |
ORPHA:397596 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Hypotelorism, Deeply set eye, Short philtrum, Depressed nasal bridge, Anteverted nares, Highly ar... |
OMIM:618454 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... |
ORPHA:97279 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Jejunal atresia, Apnea, Polyhydramnios, Tapered finger, High, narrow palate, Narrow palate, Type ... |
OMIM:612949 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Increased body mass index, Decreased thyroid-stimulating hormone level,... |
ORPHA:300373 |
| Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Depressed nasal bridge, Choanal atresia, Blepharophimosis, Bifid nasal tip, Limbal d... |
ORPHA:1791 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Death in childhood, Lethargy, Apnea, Ptosis |
OMIM:618225 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Epicanthus, Depressed nasal bridge, Small for gestational age, Cryptorchidism, Hypotelorism, Wide... |
OMIM:300661 |
| C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Premature ovarian insufficiency, Depressed nasal bridge, Highly arched eyebrow, Fema... |
OMIM:110100 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Hypotelorism |
ORPHA:1952 |
| Müllerian Aplasia And Hyperandrogenism |
|
Acne, Renal agenesis, Short stature, Synophrys, Obesity, Primary amenorrhea, Cleft palate, Hypopl... |
ORPHA:247768 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Neonatal ... |
OMIM:130650 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive |
ORPHA:79283 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Polyhydramnios, Choanal stenosis, Atrial septal defect, Intrauterine growth retar... |
OMIM:620186 |
| Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Highly arched eyebrow,... |
OMIM:618774 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc... |
ORPHA:98915 |
| Braddock Syndrome |
|
Epicanthus, Neonatal respiratory distress, Hypotelorism, Blepharophimosis, Pulmonary arterial hyp... |
ORPHA:52047 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
High, narrow palate, Anteriorly placed anus, Atrial septal defect, Prominent fingertip pads, Pate... |
OMIM:618494 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Pneumonia, Recurrent upper respiratory trac... |
OMIM:614069 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Hematuria, Nephrotic syndro... |
OMIM:613913 |
| Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Precocious puberty in females, Ataxia, Aggressive behavior, Prot... |
ORPHA:72 |
| Hartsfield Syndrome |
|
Encephalocele, Telecanthus, Depressed nasal bridge, Split hand, Cleft palate, Respiratory insuffi... |
ORPHA:2117 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Small for gestational age, Card... |
ORPHA:555874 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ... |
ORPHA:60033 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, Cleft palate, Hypotelorism, High palate, Solitary median maxillary central incisor |
OMIM:602418 |
| Cat-Eye Syndrome (Type I) |
|
Downslanted palpebral fissures, Iris coloboma, Micrognathia |
DECIPHER:42 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta... |
ORPHA:2968 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Cataract, Highly arched eyebrow, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:620157 |
| White Forelock With Malformations |
|
Atrial septal defect |
OMIM:277740 |
| C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... |
OMIM:613652 |
| Maxillonasal Dysplasia |
|
Depressed nasal bridge, Open bite, Depressed nasal ridge, Cleft palate, Tooth agenesis, Short col... |
ORPHA:1248 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia |
OMIM:614493 |
| Pierpont Syndrome |
|
Telecanthus, Small for gestational age, Wide nasal ridge, Abnormal cortical gyration, Cryptorchid... |
ORPHA:487825 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Hypotelorism, Thin upper lip vermilion, Long philtrum, Prominent nose |
OMIM:619691 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h... |
ORPHA:99880 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... |
ORPHA:49042 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cyanosis, Hypoglycemia, Ventricular septal defect, Cardiomegaly, Tachypnea, Renal c... |
ORPHA:137675 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Renal sa... |
OMIM:300200 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect, Abnormality o... |
ORPHA:2515 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Cleft palate, Hypotelorism, Deeply set eye, Eyelid coloboma, Downslanted palpebr... |
OMIM:268850 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Narrow nasal ridge, Hypertelorism, Bulbous nose, Hypotelorism, Deeply set eye, High palate, Long ... |
OMIM:612940 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Narrow nasal bridge, Cryptorchidism, Hypotelorism, Upslanted palpebral fissure, Aplasia/Hypoplasi... |
ORPHA:3082 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Rhizomelia,... |
OMIM:614376 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Hypertelorism, Upslanted palp... |
OMIM:613443 |
| Asherman Syndrome |
|
Metrorrhagia, Miscarriage, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility ... |
ORPHA:137686 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Epicanthus, Carious teeth, Synophrys, Malar flattening, Retrognathia, Downslanted palpebral fissu... |
ORPHA:1390 |
| Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia,... |
ORPHA:2298 |
| 20P12.3 Microdeletion Syndrome |
|
Epicanthus, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, Long philtrum, Malar flat... |
ORPHA:261295 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef... |
OMIM:615849 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Hypertelorism, Cryptorchidism, Wide nasal bridge, Proptosis, Long philtrum, Sho... |
OMIM:618577 |
| Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, M... |
ORPHA:347 |
| Mandibulofacial Dysostosis With Alopecia |
|
Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of... |
OMIM:616367 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Papillary cystadenoma of the epididymis, Renal Fanconi syndrome, Hypothyroidism, Hepatic steatosi... |
ORPHA:93111 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Mesangial hypercellularity, Antinuclear antibody positivity, Dyspnea, Tachypnea, Crescentic glome... |
OMIM:616414 |
| Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive |
ORPHA:622 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased circulatin... |
OMIM:611926 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... |
OMIM:304790 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Thin upper lip vermilion, Deep philtrum, Dental malocclusion, Hypotelorism,... |
ORPHA:329178 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss, Growth delay, Lethargy, Polydipsia, Diabetes insipidus |
ORPHA:30925 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ne... |
ORPHA:2495 |
| Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Synophrys, Upslanted palpeb... |
OMIM:618737 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Short metacarpal, Hypospadias, Diabetes mellitus, Anteverted nares, Depressed nasa... |
OMIM:614613 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Unilateral ptosis, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nar... |
OMIM:614744 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Irregular dentition, Narrow nose, Hypertelorism, Bulbous nose, Asthma, Cleft palate, Hypotelorism... |
OMIM:615656 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Narrow nasal bridge, Hypotelorism, Unilateral cleft lip, Ptosis |
ORPHA:2511 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Respiratory distress, Depressed nasal bridge, Choanal atresia, Prominent nose, A... |
OMIM:300968 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... |
ORPHA:79084 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Anteverted nares, Depresse... |
ORPHA:171839 |
| Bardet-Biedl Syndrome 19 |
|
Cone/cone-rod dystrophy, Ventricular septal defect, External genital hypoplasia, Partial atrioven... |
OMIM:615996 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
| Gitelman Syndrome |
|
Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyper... |
ORPHA:358 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Thin vermilion border, Proptosis, Narrow mouth |
ORPHA:2370 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Astigmatism, Everted l... |
OMIM:614753 |
| Sandestig-Stefanova Syndrome |
|
Epicanthus, Laterally extended eyebrow, Small for gestational age, Rocker bottom foot, Highly arc... |
OMIM:618804 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Telecanthus, Hypoplasia of the maxilla, Wide nasal bridge, Microcornea, Sh... |
OMIM:601499 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertrophic card... |
ORPHA:444013 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:254351 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
| Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue |
ORPHA:314652 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Epicanthus, Camptodactyly of finger, Prominent nasal bridge,... |
ORPHA:3409 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Prominent nasal bridge, Intestinal malrotation, ... |
ORPHA:401935 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe... |
ORPHA:340 |
| 16P12.1P12.3 Triplication Syndrome |
|
Unilateral ptosis, Decreased response to growth hormone stimulation test, Bilateral cryptorchidis... |
ORPHA:485405 |
| Frontonasal Dysplasia 1 |
|
Epicanthus, Brachydactyly, Broad nasal tip, Bifid nasal tip, Postaxial hand polydactyly, Anterior... |
OMIM:136760 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
| Mmep Syndrome |
|
Microphthalmia, Ventricular septal defect, Cryptorchidism |
ORPHA:3434 |
| Harrod Syndrome |
|
Long nose, Cryptorchidism, Dental malocclusion, Hypotelorism, High palate, Narrow mouth, Failure ... |
ORPHA:2115 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... |
OMIM:612526 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
| Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Lethargy, Failure to thrive |
ORPHA:26792 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia, Ataxia, Acute rhabdomyolysi... |
ORPHA:48431 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... |
ORPHA:562 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Epicanthus, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Small ... |
OMIM:614114 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... |
OMIM:235200 |
| Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Neonatal respiratory distress, Cryptorchidism, Hypotelorism, Deeply set eye, High palate, Narrow ... |
OMIM:602471 |
| Prolidase Deficiency |
|
Depressed nasal bridge, Hypertelorism, Asthma, Recurrent pneumonia, Systemic lupus erythematosus,... |
OMIM:170100 |
| Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Failure to thrive, Bilateral cryptorchidism, Carious teeth, Pyloric stenosis, Hypote... |
OMIM:616395 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Lymphopenia, Diabetes mellitus, Ataxia, Skeletal muscle atrophy... |
ORPHA:100 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Ata... |
OMIM:615816 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Abnormality of... |
ORPHA:1606 |
| Autoimmune Hepatitis |
|
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... |
ORPHA:2137 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis, Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Hypote... |
ORPHA:276413 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Morgagni diaphragmatic hernia, Periorbital edema, Rectal prolapse, Hypoplasia of the thymus, Deat... |
OMIM:613177 |
| Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Hyperinsulinemia, Incr... |
OMIM:615363 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis, Polyphagia |
OMIM:620195 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Microvesicular hepatic steatosis, Tachypnea, Aortic valve atresia, Simplif... |
OMIM:220111 |
| Baraitser-Winter Syndrome 1 |
|
Epicanthus, Bicuspid aortic valve, Anteverted nares, Highly arched eyebrow, Short stature, Pachyg... |
OMIM:243310 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Prominent nose, Bilateral cryptorchidism, High, narrow palate, Shy... |
ORPHA:466791 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Baller-Gerold Syndrome |
|
Narrow nasal bridge, Epicanthus, Failure to thrive in infancy, Prominent nasal bridge, Malabsorpt... |
ORPHA:1225 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtratio... |
ORPHA:85450 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Deeply set eye, Short nose, Thick vermilion border, Long philtrum |
ORPHA:833 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Small scrotum, Internally nucleated skeletal muscle fibers, Edema, Polyh... |
ORPHA:98905 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Warburg Micro Syndrome 1 |
|
Overlapping toe, External genital hypoplasia, Anteverted nares, Short stature, Cryptorchidism, Pe... |
OMIM:600118 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Upslanted palpebral fissure, ... |
OMIM:300558 |
| Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Lymphedema, Circulating immune complexes, Lymphadenitis, Abn... |
ORPHA:2035 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... |
ORPHA:217390 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Failure to thrive, Eczema, Pneumonia, Splenomegaly, Asthma, D... |
OMIM:607271 |
| Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Pneumonia, Abnormality on pulmonary function testing, E... |
ORPHA:97244 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Parachute mitral valve, Prominent nose, Synophrys, Atrial septal defect, Pulmona... |
OMIM:618316 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Polyphagia, Prominent fingertip pads, Depresse... |
OMIM:277590 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Retinal coloboma, Hypogonadism, Microphthalmia, Rod-cone dystrophy |
OMIM:601794 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive |
ORPHA:26 |
| Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Small for gestation... |
ORPHA:2260 |
| Ogden Syndrome |
|
Everted upper lip vermilion, Underdeveloped nasal alae, High, narrow palate, Cryptorchidism, Shor... |
ORPHA:276432 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Polyhydramnios, Long nose, T lymphocytopenia, Decreased circulating IgG level, Short phalanx of f... |
ORPHA:508533 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Bulbous nose, Short foot, Recurrent otitis media, Periodontitis, Reducti... |
OMIM:266265 |
| Koolen-De Vries Syndrome |
|
Epicanthus, Small for gestational age, Prominent nasal bridge, Cleft upper lip, Cryptorchidism, B... |
OMIM:610443 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Apnea, Respiratory insufficiency, Lethargy, Failure to thrive, Ptosis |
OMIM:618226 |
| Short Stature-Micrognathia Syndrome |
|
Cryptorchidism, Cleft palate, Hypotelorism, High palate, Decreased body weight, Failure to thrive... |
OMIM:617164 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Death in childhood |
OMIM:253300 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| East Syndrome |
|
Salt craving, Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk, Enuresis, H... |
ORPHA:199343 |
| Ohdo Syndrome |
|
Epicanthus, Depressed nasal bridge, Anteverted nares, Sparse eyebrow, Cryptorchidism, Wide nasal ... |
OMIM:249620 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Ta... |
ORPHA:542323 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Overweight, Hypertelorism, Recurrent upper respiratory tract infections, Downtur... |
ORPHA:391372 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Epicanthus, Anteverted nares, Hypertelorism, Carious teeth, Cryptorchidism, Deep philtrum, Thick ... |
ORPHA:2701 |
| Fg Syndrome 5 |
|
Epicanthus, Depressed nasal bridge, Anteverted nares, Diastema, Upslanted palpebral fissure, Long... |
OMIM:300581 |
| Satoyoshi Syndrome |
|
Short stature, Tapered finger, Abnormality of the humerus, Nephrogenic diabetes insipidus, Genu v... |
ORPHA:3130 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Exaggerated cupid's bow, Prominent nasal bridge, Cryptorchidism, Narrow mouth, Dyspnea, Cleft pal... |
ORPHA:2215 |
| Seckel Syndrome 7 |
|
Hypotelorism, Primary amenorrhea, Prominent nose |
OMIM:614851 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Thin upper lip vermilion, Prominent nose, Long nose, Cryptorchidism, Hypotelorism, Deeply set eye... |
OMIM:300486 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:300991 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Camptodactyly of finger, Recurrent pneumonia, Intrauterine growth retardation, ... |
ORPHA:1495 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Dyspnea, Primary hyperparath... |
OMIM:239200 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Diethylstilbestrol Syndrome |
|
Central apnea, Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestatio... |
ORPHA:1916 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating g... |
ORPHA:64739 |
| Japanese Encephalitis |
|
Respiratory distress, Skeletal muscle atrophy, Pulmonary edema, Neutrophilia, Facial palsy, Anore... |
ORPHA:79139 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Colo... |
OMIM:618652 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enlargement, Esopha... |
OMIM:616028 |
| Simple Cryoglobulinemia |
|
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Mesangial hypercellularity, ... |
ORPHA:91139 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Obesity, Wide nasal bridge, Bilateral talipes equinovarus, Wide nasal base, ... |
OMIM:616521 |
| Classic Galactosemia |
|
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... |
ORPHA:79239 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Wide nose, Anteverted nares, Short stature, Postaxial polydactyly, Cryptorchidism, ... |
OMIM:619185 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Downturned corners of mouth, Hypotelorism |
OMIM:618718 |
| Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Left ventricular hypertrophy, Short stature, Abnormal urine sodium concentra... |
ORPHA:320 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Small for gestational age, Unilateral renal age... |
ORPHA:93101 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Hallux valgus, Proteinuria, Arachnodactyly, Eczema, Minimal change g... |
OMIM:618348 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Retinal dysplasia |
OMIM:614830 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Synophrys, Ileus, Hypotelorism, Narrow palpebral fissure, High palate, Short... |
OMIM:620156 |
| Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
| Holoprosencephaly |
|
Synophrys, Deep philtrum, Depressed nasal ridge, Hypotelorism, Deeply set eye, Absent nares, Apla... |
ORPHA:2162 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
| Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Clinodactyly of the 5th finger, Hypogonadotropi... |
ORPHA:353298 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Macular atrophy, Optic atrophy, Microphthalmia, Retinopathy, Intrauterine grow... |
OMIM:616171 |
| Thrombocytopenia 6 |
|
Spontaneous, recurrent epistaxis, Deeply set eye, Hypotelorism |
OMIM:616937 |
| Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Choanal atresia, Lacrimal duct stenosis, Cleft soft palate, Cryptorchidis... |
OMIM:154500 |
| Immunodeficiency 102 |
|
Hepatomegaly, Recurrent skin infections, Nodular regenerative hyperplasia of liver, Autoimmune th... |
OMIM:301082 |
| 8P23.1 Microdeletion Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, High palate, Atrioventricular canal... |
ORPHA:251071 |
| Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Small for gestational age |
OMIM:617065 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Situs inversus totalis, Recu... |
OMIM:615451 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Abnormal hemidiaphragm morphology, Cardiomegaly, Non... |
ORPHA:980 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... |
ORPHA:369929 |
| Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... |
OMIM:226990 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Hypogonadotropic hypogonadism, Short stature, Preaxial polydactyly, Obesity, Hypogon... |
ORPHA:141333 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Cardiomegaly, Hydrocephalus, Microphthalmia, Intrauterine gr... |
ORPHA:858 |
| Trisomy 1Q |
|
Wide nose, Depressed nasal bridge, Hypertelorism, Cryptorchidism, Cleft palate, Hypotelorism, Nar... |
ORPHA:261344 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Cardiomegaly, Prominent nose, High, narrow palate, Pineal cyst, Atrial septal defect, Patent fora... |
OMIM:300967 |
| Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Death in infancy, Postnatal growth retardation, Death in childhood, Intrauterine growth retardati... |
OMIM:615440 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Hypertelorism, Wide nasal ... |
OMIM:615716 |
| Long Qt Syndrome 8 |
|
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... |
OMIM:618447 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Ventricular septal defect, Patent ductus arteriosus, Aplasia... |
ORPHA:290 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Edema, Anteriorly placed anus, Abnormality of the female genitalia, Death in... |
ORPHA:2315 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Short philtrum, Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal punctum, Highl... |
ORPHA:572333 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
| Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Hypospadias, Ventricular septal defect, Anteverted nares, Blepharophimosis, Choanal a... |
ORPHA:494344 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Death in childhood |
OMIM:618683 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Renal hy... |
ORPHA:2470 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Metaphyseal dysplasia, Hypospadias, Decreased response to growth hormone stimulation test, Adrena... |
OMIM:614732 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
| Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, Elbow contracture, V... |
OMIM:617201 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Epicanthus, Wide nasal bridge, Narrow mouth, Malar flattening, Abno... |
ORPHA:2412 |
| Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros... |
ORPHA:470 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Abnormal nasal bone morphology, Neoplasm... |
ORPHA:54595 |
| Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
| Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, High, narrow palate,... |
ORPHA:3378 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy, Failure to thrive |
OMIM:237310 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co... |
OMIM:261740 |
| Congenital Gerbode Defect |
|
Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pedal edema, Pulmonary ar... |
ORPHA:99095 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, External genital hypoplasia, Patent ductus arteriosus, Pulmonic stenos... |
OMIM:249670 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Orbital cyst |
OMIM:251505 |
| Senior-Loken Syndrome 4 |
|
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Anemia |
OMIM:606996 |
| Acrocephalopolydactyly |
|
Epicanthus, Depressed nasal ridge, Hepatosplenomegaly, Limb undergrowth, Short nose, Brachydactyly |
ORPHA:221054 |
| Nelson Syndrome |
|
Increased urinary cortisol level, Lower limb muscle weakness, Testicular neoplasm, Pituitary cort... |
ORPHA:199244 |
| Distal Deletion 10Q |
|
Smooth philtrum, Thin upper lip vermilion, Epicanthus, Prominent nasal bridge, Prominent nose, Wi... |
ORPHA:96148 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Optic atrophy, Coloboma |
OMIM:274270 |
| Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ... |
OMIM:265380 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Cutaneous finger syndactyly, Clinodactyly of the 5th finger, Hypospadias, Antevert... |
OMIM:613026 |
| Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Anteverted nares, Bulbous nose, Thick lower lip vermilion, Long eyel... |
ORPHA:969 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Short stature, Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplasi... |
OMIM:601076 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... |
ORPHA:1354 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Broad-based gait, Ventricular septal defect, Eczema, Short hallux, Broad nasal tip, Long fingers,... |
OMIM:620393 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... |
ORPHA:1329 |
| Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Wide nose, Diabetes mellitus, Dorsocervical fat pad, Primary amenorrhea, Delayed thelarche, Hyper... |
OMIM:616033 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Lethargy, Amenorrhea |
OMIM:602390 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypoplasia of the u... |
ORPHA:2232 |
| 5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Open mouth, Upslanted palpebral fissure, Deeply set eye, Short philtrum, Short ... |
ORPHA:228384 |
| Retinal Dystrophy With Leukodystrophy |
|
Bilateral ptosis, Cleft palate, Hypotelorism |
OMIM:618863 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Autoimmunity, Anti-thyroid peroxidase antibody positivity, Abnormal pituitar... |
ORPHA:64744 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Short stature, Splenomegaly, Proximal femoral metaphyseal irregularity, Recurrent pne... |
OMIM:602271 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Bilateral cryptorchidism, Short palm, Syndactyly, Anteve... |
OMIM:305400 |
| Estrogen Resistance Syndrome |
|
Acne, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary... |
ORPHA:785 |
| Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia, Obesity |
OMIM:618406 |
| Ciliary Dyskinesia, Primary, 41 |
|
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... |
OMIM:618449 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Telecanthus, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate, Polydactyly... |
OMIM:300484 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... |
OMIM:194072 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Short stature, Maternal diabetes, Renal hypoplasia/aplasia, Cryptor... |
ORPHA:1988 |
| Igg4-Related Submandibular Gland Disease |
|
Autoimmunity, Prostatitis, Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, En... |
ORPHA:449432 |
| Bainbridge-Ropers Syndrome |
|
Polyhydramnios, Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, C... |
OMIM:615485 |
| Glutathionuria |
|
Hypotelorism |
OMIM:231950 |
| Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Abnormal small intestine... |
ORPHA:90291 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypertelorism, Hypotelorism, Upslanted palpebral fissur... |
OMIM:617822 |
| Gapo Syndrome |
|
Sparse eyelashes, Dysmenorrhea, Palpebral edema, Anteverted nares, Sparse eyebrow, Depressed nasa... |
ORPHA:2067 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy, Small for gestational age |
OMIM:610498 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Optic... |
OMIM:249270 |
| Fanconi Anemia, Complementation Group S |
|
Epicanthus, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Underdeveloped... |
OMIM:617883 |
| Aspergillosis |
|
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect... |
ORPHA:1163 |
| Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, High... |
OMIM:206920 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Cyanosis, Gastritis, Ataxia, Facial palsy, Abnormal pattern of respiration, ... |
ORPHA:31826 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Cryptorchidism, Retinal coloboma, Hypogonadism, Microphthalmia, Rod-... |
ORPHA:363741 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612964 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Anosmia, Increased serum leptin, Hyposmia, Polyphagia |
OMIM:617885 |
| Familial Cold Urticaria |
|
Dehydration, Hyperhidrosis, Arthritis, Conjunctivitis, Polydipsia |
ORPHA:47045 |
| Arthrogryposis, Distal, Type 2A |
|
Polyhydramnios, Knee flexion contracture, High palate, Hernia, Spina bifida occulta, Wrist flexio... |
OMIM:193700 |
| Glycine Encephalopathy 1 |
|
Death in infancy, Lethargy |
OMIM:605899 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Hypertelorism, Narrow mouth, Synophrys, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Up... |
OMIM:620250 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Abnormal eyelid morphology, Carious teeth, Conical tooth, Ectropion of lower eyelids, Bilateral c... |
ORPHA:1997 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Synophrys, Polyphagia, Abnormal lung lobation, Depressed n... |
OMIM:607872 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:251274 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Wide nasal bridge... |
OMIM:180500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hypotelorism, Deeply set eye, Oligodontia, High palate, Short philtrum, Depressed nasal bridge, H... |
OMIM:309590 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Double outlet right ventricle, Cough,... |
OMIM:618254 |
| Scorpion Envenomation |
|
Restlessness, Acute pancreatitis, Ketonuria, Ataxia, Edema, Myocarditis, Tachypnea, Rhabdomyolysi... |
ORPHA:466677 |
| Lymphedema, Primary, With Myelodysplasia |
|
Epicanthus, Hypotelorism |
OMIM:614038 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Short stature, Anorexia, Polyhydramn... |
ORPHA:223 |
| Complement Component 4A Deficiency |
|
Systemic lupus erythematosus, Glomerulonephritis, Reduced hemolytic complement activity, Decrease... |
OMIM:614380 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Hydrocephalus, Coloboma, Death in childhood, Left ventricular hypertrophy, Mi... |
OMIM:613153 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... |
ORPHA:1772 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Absent inner d... |
OMIM:613807 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Epicanthus, Anteverted nares, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent ... |
OMIM:618506 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Telecanthus, Short stature, Adrenal hypoplasia, Thrombocytopenia, Hypopla... |
OMIM:619151 |
| 46,Xy Sex Reversal 4 |
|
Renal dysplasia, Hypergonadotropic hypogonadism, Anteverted nares, Prominent nose, Depressed nasa... |
OMIM:154230 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Highly arched eyebrow, Congenital diaphragmatic hernia, Pulm... |
OMIM:300887 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis... |
OMIM:615482 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Impotence, Card... |
OMIM:606069 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis |
ORPHA:1067 |
| Trisomy 12P |
|
Epicanthus, Supernumerary nipple, Hypertelorism, Wide nasal bridge, Cleft palate, Downturned corn... |
ORPHA:1699 |
| Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth, Corneal dystrophy, Opa... |
OMIM:180900 |
| Arima Syndrome |
|
Tachypnea, Hepatic fibrosis, Nephronophthisis, Hepatic steatosis, Tubulointerstitial fibrosis, He... |
OMIM:243910 |
| Marden-Walker Syndrome |
|
Decreased muscle mass, High, narrow palate, Congenital contracture, High palate, Micropenis, Hypo... |
OMIM:248700 |
| Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
| Saethre-Chotzen Syndrome |
|
Epicanthus, Depressed nasal bridge, Prominent nasal bridge, Hypertelorism, Open bite, Cryptorchid... |
ORPHA:794 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Anteverted nares, Decreased f... |
OMIM:616897 |
| Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
| Abruzzo-Erickson Syndrome |
|
Hypospadias, Cryptorchidism, Coronal hypospadias, Coloboma, Chorioretinal coloboma, Atrial septal... |
ORPHA:921 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Ulnar deviation of finger, Abnormal pelvic girdle bone morphology, Arrhy... |
ORPHA:2928 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
ORPHA:85275 |
| Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Neonatal respiratory distress, Depressed nasal bridge, Antevert... |
OMIM:610015 |
| Holoprosencephaly 7 |
|
Synophrys, Hypotelorism, Hypoplastic nasal septum, Shallow orbits, Median cleft palate, Bilateral... |
OMIM:610828 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmonary ob... |
OMIM:613490 |
| Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng... |
ORPHA:3392 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Failure to thrive, Hypotelorism |
ORPHA:477673 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Epicanthus, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of... |
ORPHA:915 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Hypotelorism |
OMIM:619091 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bron... |
OMIM:620197 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Cardiomegaly, Lethargy, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypog... |
ORPHA:465508 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Distichiasis, High palate, Long philtrum |
ORPHA:2598 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:615504 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Respiratory distress, Epicanthus, Telecanthus, Anteverted nares, Tented uppe... |
OMIM:619383 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Anteriorly placed anus, High palate, Distally placed thumb, Encephalocele, Hyperac... |
OMIM:619148 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Small scrotum, High palate, Abnormal repetitive mannerisms, Bifid uvula, Nail-biting, Hair-pullin... |
OMIM:620330 |
| Eng-Strom Syndrome |
|
Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Failure to thrive, Apnea, Respiratory insufficiency |
OMIM:618228 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Depressed nasal ridge... |
OMIM:613885 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
| Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Aganglionic megacolon, Convex nasal ridge, Optic nerv... |
ORPHA:85284 |
| Ovarian Dysgenesis 5 |
|
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... |
OMIM:617690 |
| Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility... |
ORPHA:244 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... |
OMIM:614129 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Ptosis, Telecanthus, Hypoventilation, Anteverted nares, Depressed nasal bri... |
ORPHA:314655 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
| Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Situs inversus totalis, Biliary cirrhosis, Cholestasis, He... |
OMIM:267010 |
| Microlissencephaly |
|
Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen... |
ORPHA:1083 |
| Edinburgh Malformation Syndrome |
|
Failure to thrive, Anteverted nares, Choanal atresia, Long fingers, Synophrys, Respiratory insuff... |
ORPHA:1895 |
| Stickler Syndrome Type 1 |
|
Cataract, Hypoplasia of the maxilla, Cleft palate, Long philtrum, Short nose |
ORPHA:90653 |
| Craniotelencephalic Dysplasia |
|
Hypotelorism |
OMIM:218670 |
| Smith-Kingsmore Syndrome |
|
Rhizomelia, Hypoglycemia, Diastasis recti, Large for gestational age, Short proximal phalanx of f... |
OMIM:616638 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Synophrys, Renal cyst, Hernia, Chronic otitis media, ... |
ORPHA:261494 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile duct morpholo... |
ORPHA:731 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... |
OMIM:614700 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphol... |
ORPHA:251004 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Choreoathetosis, Glucose intolerance, T lymphocytopenia, ... |
OMIM:208900 |
| Craniofacial-Deafness-Hand Syndrome |
|
Telecanthus, Hypoplasia of the maxilla, Malar flattening, Short nose, Downslanted palpebral fissures |
OMIM:122880 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Palpebral edema, Abnormal morphology of bony orbit of skull, Abnormal eyelid morpholog... |
ORPHA:449563 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ... |
ORPHA:567548 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
High palate, Chronic kidney disease, Arachnodactyly, Glomerulonephritis |
ORPHA:2172 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Hypoplasia of the femoral head, Pn... |
OMIM:209950 |
| Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea |
OMIM:617577 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Telecanthus, Small scrotum, Anteverted nares, Depressed nasal bridge, Underdevelop... |
ORPHA:228390 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Gait ataxia, Upslanted palpebral fissure, 3-Methylglutaco... |
ORPHA:496790 |
| Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
| Short Syndrome |
|
Posterior embryotoxon, Telecanthus, Corneal opacity, Abnormal dental enamel morphology, Abnormali... |
ORPHA:3163 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Failure to thrive, Respiratory insufficiency |
ORPHA:28 |
| Even-Plus Syndrome |
|
Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, Atopic dermatitis, Dysp... |
OMIM:616854 |
| Young Syndrome |
|
Recurrent sinopulmonary infections, Bronchiectasis, Azoospermia, Congenital pulmonary airway malf... |
OMIM:279000 |
| Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
| Alström Syndrome |
|
Respiratory distress, Urinary incontinence, Decreased response to growth hormone stimulation test... |
ORPHA:64 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Highly arched eyebrow, Prominent nas... |
ORPHA:2083 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:1473 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... |
OMIM:619220 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
| Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
| Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Tachypnea, Abnormal ... |
ORPHA:3384 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Narrow nasal ridge, Hypertelorism, Cryptorchidism, Hypotelorism, Narrow mouth, Failure to thrive |
OMIM:219150 |
| Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Autoimmune antibody positivity, Depressed nasal bridge, Lethargy |
ORPHA:95717 |
| Jacobsen Syndrome |
|
Flexion contracture, Clitoral hypoplasia, Eyelid coloboma, Atrial septal defect, Clinodactyly of ... |
OMIM:147791 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
| Ruvalcaba Syndrome |
|
Ptosis, Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia... |
ORPHA:3121 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Failure to thrive, Gastritis, Skin rash, Perianal abscess, Bron... |
OMIM:618108 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased T cell count, Pedal edema, Increased circulating IgG level, Inflammation of the large i... |
ORPHA:98813 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Bronchiectasis, Ulcerative colitis, Atopic dermatitis, Colonic e... |
OMIM:617638 |
| Warburg Micro Syndrome 4 |
|
Decreased muscle mass, Small scrotum, Anteverted nares, Prominent nasal bridge, Short stature, Cr... |
OMIM:615663 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Cough... |
OMIM:616037 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Retinitis Pigmentosa |
|
Hypoplasia of penis, Anteverted nares, Hyperinsulinemia, Wide nasal bridge, Atypical scarring of ... |
ORPHA:791 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Polyhydramnios, Abnormal lung lobation, Renal cyst, Short palm, ... |
OMIM:312870 |
| Rubinstein-Taybi Syndrome 2 |
|
Epicanthus, Highly arched eyebrow, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, ... |
OMIM:613684 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Neonatal respiratory distress |
ORPHA:254857 |
| C Syndrome |
|
Micromelia, High palate, Dislocated radial head, Hepatomegaly, Short metacarpal, Anteverted nares... |
OMIM:211750 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Upslanted palpebral fissure, Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:93950 |
| Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Anteverted nares, Choanal atresia, Depressed nasal bridge, Myelomeningocele, Respi... |
ORPHA:1914 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Ptosis, Renal malrotation, Anteverted nares, Decreased response to growth hormone stimulation tes... |
OMIM:615866 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Epicanthus, Depressed nasal bridge, Penile freckling, Large for gestational age, Sp... |
OMIM:605309 |
| Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnorm... |
OMIM:137920 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Polyhydramnios, Asplenia, Abnormal lung lobation, Hydrops fetali... |
ORPHA:99776 |
| Distal Duplication 18Q |
|
Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Anteverted nares, Choanal atresia, ... |
ORPHA:1716 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Synophrys, Oligodontia, Exaggerated cupid's bow, Hypertelorism, Short... |
ORPHA:364577 |
| Peho-Like Syndrome |
|
Tapered finger, Epicanthus, Short nose, Edema |
OMIM:617507 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Compulsive behaviors, Bifid uvula, Anteverted nares, Depressed nasal bridge, Highly arched eyebro... |
ORPHA:404440 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... |
ORPHA:95427 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis, Coloboma |
OMIM:613094 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Ventricular septal defect, Minimal chan... |
OMIM:616730 |
| Coffin-Siris Syndrome |
|
Simplified gyral pattern, Papillary thyroid carcinoma, Aspiration pneumonia, Hernia, Atrial septa... |
ORPHA:1465 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Optic atrophy, Microphthalmia |
ORPHA:1528 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Facial palsy, Hydrocephalus, Cardiomyopathy, Microphthalmia |
OMIM:613155 |
| Fanconi Anemia |
|
Abnormal eyelid morphology, Abnormal femur morphology, Leukopenia, Abnormality of the liver, High... |
ORPHA:84 |
| Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Leukopenia, Microphallus, ... |
OMIM:603467 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Downslanted p... |
ORPHA:3145 |
| Autosomal Dominant Omodysplasia |
|
Depressed nasal bridge, Hypertelorism, Cryptorchidism, Long philtrum, Short nose |
ORPHA:93328 |
| Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Skin rash, Edema, Underdeveloped nasal alae, Sparse eyebrow, Splenomegaly... |
OMIM:604173 |
| Alg9-Cdg |
|
Villous atrophy, Abnormal lung lobation, Hydrops fetalis, Right ventricular dilatation, Abnormal ... |
ORPHA:79328 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Epicanthus, Anteverted nares, Acne, Biliary tract abnormality, Obesity, Respiratory insufficiency... |
ORPHA:3191 |
| Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect, Cryptorchidism |
ORPHA:1918 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cleft ala nasi, Cryptorchidism, Orbital encephalocele, Orbital cyst, Cleft palate, ... |
OMIM:164180 |
| Acrodysostosis |
|
Micromelia, Short metatarsal, Depressed nasal ridge, Hypoplasia of the ulna, Short metacarpal, An... |
ORPHA:950 |
| Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Situs inversus totalis, Recurre... |
OMIM:617092 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Tachypnea, Respiratory failure, Death in childhood, Lethargy, Failure to thrive, Ptosis |
OMIM:615838 |
| Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Epicanthus, Median cleft lip, Anteverted nares, Abnormal dental enamel morph... |
ORPHA:2710 |
| Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchie... |
OMIM:611884 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Miscarriage, Pneumonia |
ORPHA:464370 |
| Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Situs inversus to... |
OMIM:612650 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... |
ORPHA:2235 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Schimke Immunoosseous Dysplasia |
|
Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Abnorma... |
OMIM:242900 |
| Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis, Death in infancy |
OMIM:275300 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... |
OMIM:618986 |
| Miller-Dieker Lissencephaly Syndrome |
|
Polyhydramnios, Clinodactyly of the 5th finger, Pachygyria, Pelvic kidney, Recurrent aspiration p... |
OMIM:247200 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Hypertelorism, ... |
OMIM:614105 |
| Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Anteverted nares, Highly arched eyebrow, Depressed nasal ... |
OMIM:145420 |
| Gitelman Syndrome |
|
Salt craving, Ataxia, Polyuria, Renal magnesium wasting, Rhabdomyolysis, Growth delay, Enuresis, ... |
OMIM:263800 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumon... |
OMIM:619057 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Depressed nasal bridge, High palate, Lethargy, Inspirator... |
OMIM:604377 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
| Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Epicanthus, Prominent nasal tip, Short nose, Smooth philtrum |
OMIM:618218 |
| Ring Chromosome 7 Syndrome |
|
Unilateral ptosis, Epicanthus, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, B... |
ORPHA:1449 |
| Hypomagnesemia 3, Renal |
|
Failure to thrive, Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Deeply set eye, Short philtrum, Hypotelorism |
OMIM:603585 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Metaphyseal widening, Synophrys, Flexion contracture, Leukopenia, Macrovesi... |
OMIM:617303 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
| Cocaine Intoxication |
|
Respiratory distress, Pulmonary edema, Proteinuria, Glomerulonephritis, Diffuse alveolar hemorrha... |
ORPHA:90068 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Edema, Tachypnea, Increased circulating mye... |
ORPHA:36234 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Short stature, Eosinophilia, Asthma, Atopic dermatitis, Hepatosp... |
OMIM:618999 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, High palate, Death in childhood, Micropenis, Abnormal repetit... |
OMIM:619005 |
| Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
| Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Pneumonia, Edema, Eosinophilia, Splenomegaly, Short toe, Leukocy... |
ORPHA:39041 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Ata... |
OMIM:222300 |
| Fetal Hydantoin Syndrome |
|
Epicanthus, Hypertelorism, Cryptorchidism, Depressed nasal ridge, Cleft palate, Wide mouth, Evert... |
ORPHA:1912 |
| Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic labia major... |
ORPHA:2328 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... |
ORPHA:3464 |
| Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... |
OMIM:611548 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Absent eyebrow, Absent eyelashes, Short nose, Convex nasal ridge |
OMIM:200130 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Failure to thrive, Flexion contracture |
OMIM:618379 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Almond-shaped palpebral fissure, Bulbous nose,... |
OMIM:620292 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... |
OMIM:608644 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Epicanthus, Exaggerated cupid's bow, Narrow nasal ridge, Hypertelorism, Almond-shaped palpebral f... |
OMIM:619512 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... |
ORPHA:169160 |
| Joubert Syndrome 22 |
|
Microphthalmia, Intrauterine growth retardation, Retinal dysplasia, Coloboma |
OMIM:615665 |
| Obesity |
|
Decreased resting energy expenditure |
OMIM:601665 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Absent o... |
OMIM:615500 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting |
OMIM:609218 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Hypertelorism, Recurrent pneumonia, Prominent eyelashe... |
OMIM:619179 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Respiratory distress, Elevated circulating thyroid-stimulating hormone concen... |
ORPHA:209905 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Skeletal muscle atrophy, Postnatal growth retardation, Cryptorchidism, Intrauterine... |
OMIM:615419 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Selective tooth agenesis, Conical tooth, Absent eyelashes, Hypoplasia of the ma... |
OMIM:106260 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:619004 |
| Kennedy Disease |
|
Skeletal muscle atrophy, Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erecti... |
ORPHA:481 |
| Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Ataxia, Secondary amenorrhea, Absence of pubertal development, Pri... |
OMIM:212840 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Telecanthus, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft ... |
ORPHA:79113 |
| Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth |
OMIM:246560 |
| Nager Syndrome |
|
Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Lower eye... |
ORPHA:245 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea |
OMIM:603896 |
| 9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Protruding tongue |
DECIPHER:52 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Lethargy |
ORPHA:71277 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Bilateral breast hypoplasia, Hypotelorism, Primary amenorrhea, Prominent nose |
ORPHA:319675 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth ret... |
OMIM:616113 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Weight loss, Keratoconjunctivitis, Lethargy |
ORPHA:79242 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasti... |
ORPHA:90794 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Telecanthus, Neonatal respiratory distress, Depressed nasal bridge, Antever... |
OMIM:217980 |
| Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
| 3C Syndrome |
|
Hypoplasia of penis, Adrenal hypoplasia, High, narrow palate, Abnormal tricuspid valve morphology... |
ORPHA:7 |
| Mirage Syndrome |
|
Adrenal hypoplasia, Leukopenia, Microphallus, Aspiration pneumonia, Hypospadias, Short stature, C... |
OMIM:617053 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic labia majora, Re... |
OMIM:244300 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Epicanthus, Depressed nasal bridge, Ventricular septal defect, Polydactyly, Microphth... |
OMIM:602501 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Vici Syndrome |
|
Death in infancy, Hypertelorism, Hypotelorism, Depressed nasal tip, High palate |
ORPHA:1493 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Open bi... |
ORPHA:1327 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Neutropenia in pres... |
ORPHA:1959 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ... |
ORPHA:656 |
| Miller-Dieker Syndrome |
|
Epicanthus, Short nose, Abnormal upper lip morphology, Anteverted nares |
ORPHA:531 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| 8Q22.1 Microdeletion Syndrome |
|
Telecanthus, Sparse eyelashes, Highly arched eyebrow, Abnormality of the dentition, Sparse eyebro... |
ORPHA:178303 |
| Cardiofacioneurodevelopmental Syndrome |
|
Hypertelorism, Cryptorchidism, Cleft lip, Cleft palate, Hypotelorism, Upslanted palpebral fissure |
OMIM:619123 |
| Eem Syndrome |
|
Absent eyebrow, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely space... |
ORPHA:1897 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin... |
ORPHA:33110 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Hypertelorism, Cryptorchidism, Tachypnea, Pulmonary arterial hypertension, Failure to thrive, Let... |
OMIM:614857 |
| Pulmonary Hypertension, Primary, 5 |
|
Pulmonary arterial hypertension, Right ventricular hypertrophy, Exertional dyspnea |
OMIM:265400 |
| Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Hypertelorism, Wide nasal bridge, Proptosis, Short philtrum, Open mouth, Short ... |
OMIM:618437 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the dentition |
ORPHA:2776 |
| Martsolf Syndrome 1 |
|
Osteopathia striata, High palate, Finger joint hypermobility, Short palm, Micropenis, Short phala... |
OMIM:212720 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Epicanthus, Wide nose, Small for gestational age,... |
OMIM:607143 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Clubbing of... |
ORPHA:2032 |
| Gomez-Lopez-Hernandez Syndrome |
|
Bipolar affective disorder, Anteverted nares, Decreased response to growth hormone stimulation te... |
OMIM:601853 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... |
OMIM:619126 |
| Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism |
OMIM:215470 |
| Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
| Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Bronchiectasis, D... |
OMIM:612649 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Bicuspid aortic valve, Mild postnatal growth retardation, Prominent nose, Bila... |
OMIM:150230 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:615505 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Small scrotum, Blepharophimosis, Postnatal growth retardation, Inability t... |
OMIM:614222 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Chronic oral candidiasis, Recurrent bacterial skin infections, Skin rash, Pneumonia... |
ORPHA:276 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum |
OMIM:156510 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Smooth philtrum, Epicanthus, Anteverted nares, Choanal atresia, Hypertelorism, Cryptorchidism, Bu... |
OMIM:616975 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Prima... |
OMIM:600955 |
| Fetal Trimethadione Syndrome |
|
Epicanthus, Depressed nasal bridge, Ventricular septal defect, Synophrys, High palate, Transposit... |
ORPHA:1913 |
| Satoyoshi Syndrome |
|
Short metacarpal, Brachydactyly, Short stature, Malabsorption, Short metatarsal, Osteolytic defec... |
OMIM:600705 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Recurrent respiratory infections, Osteoarthritis, Small hand, Short nose, Inspiratory stridor, Br... |
OMIM:618618 |
| Jacobsen Syndrome |
|
Eyelid coloboma, Pachygyria, Long hallux, Broad columella, Abnormality of the anus, Broad hallux ... |
ORPHA:2308 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Inability to walk, Dysphagia, Upper ... |
ORPHA:90117 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea, Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
| Semilobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis... |
ORPHA:93924 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Atrial septal defect, Intrauterine growth reta... |
OMIM:620005 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:300915 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:613808 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Dental crowding, Hypertelorism, Bul... |
OMIM:617061 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Dysmenorrhea, Microphallus, Clinodactyly of the 5th finger, Hypothyroidism, Syndac... |
ORPHA:397590 |
| Hellp Syndrome |
|
Hemolytic anemia, Generalized edema, Decreased mean corpuscular hemoglobin concentration, Increas... |
ORPHA:244242 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Chronic bronchitis, Si... |
OMIM:614874 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Epicanthus, Failure to thrive |
OMIM:250620 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Rec... |
OMIM:242700 |
| Stormorken Syndrome |
|
Epistaxis, Prominent nose, Hypotelorism, Deeply set eye, Short philtrum |
OMIM:185070 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Upslanted palpebra... |
OMIM:620233 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Facial palsy, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Clubbing, Bron... |
OMIM:612387 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Telecanthus, Hypoplasia of the maxilla, Malar flattening, Absent extraocular musc... |
OMIM:109120 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy, Breathing dysregulation, Hypoventilation |
OMIM:618232 |
| Cat-Eye Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Iris coloboma, Chorioretinal coloboma |
ORPHA:195 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... |
ORPHA:454836 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Congenital diaphragmatic hernia, Long nose, High palate, Atrial septal defect, Clinodactyly of th... |
OMIM:617602 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Short stature, Polyuria, Megacystis, Hypertonic dehydration, Polydipsia, Failure to thrive, Diabe... |
OMIM:304800 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Anterior pituitary hypoplasia, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating... |
OMIM:613457 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Short stature, Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypertonic dehydration, Poly... |
OMIM:125800 |
| Smith-Magenis Syndrome |
|
Synophrys, Clinodactyly of the 5th finger, Chronic otitis media, Hypothyroidism, Abnormal repetit... |
ORPHA:819 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum |
OMIM:302950 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Polyuria, Short stature, Renal salt wasting, Enuresis, Dysdiadochokinesis, ... |
OMIM:612780 |
| Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Respirator... |
ORPHA:18 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Waddling gait, Short metacarpal, Brachydactyly, Rhizomelia, Small for gestational age, Diabetes m... |
OMIM:614813 |
| Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Edema of the dorsum of feet, Increased pulmonary vascular resistance, Dyspnea, Pedal edema, Eleva... |
ORPHA:275766 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T... |
OMIM:618982 |
| Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
| Cornelia De Lange Syndrome 1 |
|
Micromelia, Ectopic kidney, Proximal placement of thumb, Congenital diaphragmatic hernia, Synophr... |
OMIM:122470 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm... |
OMIM:614196 |
| Maternal Phenylketonuria |
|
Epicanthus, Anteverted nares, Bilateral ptosis, Esophageal atresia, Wide nasal bridge, Hypotelori... |
ORPHA:2209 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
| Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia, Retinal fold |
OMIM:613517 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Telecanthus, Hypogonadotropic hypogonadism, Hypertelorism, Synophrys, A... |
ORPHA:1295 |
| Lacrimoauriculodentodigital Syndrome |
|
Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Bifid uvula, Abnorm... |
ORPHA:2363 |
| Pulmonary Hypertension, Primary, 1 |
|
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... |
OMIM:178600 |
| Down Syndrome |
|
Depressed nasal ridge, Clinodactyly of the 5th finger, Hypothyroidism, Depressed nasal bridge, Ob... |
ORPHA:870 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:129900 |
| Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... |
ORPHA:228123 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta... |
OMIM:615481 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:608647 |
| Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Small scrotum, Proteinuria, Postnatal growth retardation, Cryptorchidism, N... |
ORPHA:2728 |
| Bartter Syndrome, Type 2, Antenatal |
|
Polyhydramnios, Renal salt wasting, Abnormally large globe, Dehydration, Nephrocalcinosis, Increa... |
OMIM:241200 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Persistence of primary teeth, Conical tooth, Dental malocclusion, Wide nasal bridge, Ec... |
OMIM:618727 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Anteverted nares, Knee flexion contracture, Upslanted palpebral fissure, Camptodactyly... |
OMIM:619694 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Short nose, Postaxial hand polydactyly, Cachexia |
ORPHA:1389 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Sparse eyelashes, Keratitis, Sparse eyebrow, Carious teeth, Conjunctivitis, Enamel hypo... |
OMIM:612843 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Optic nerve hypoplasia, Renal hypoplasia, Simplified gyral pattern, Microlissencep... |
OMIM:617914 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Apnea, Hypospadias, Hypoglycemia, Neutropenia, Bronchiectasis, Respira... |
OMIM:618253 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin-resis... |
ORPHA:411593 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Hypertelorism, Narr... |
OMIM:601812 |
| Ring Chromosome 21 Syndrome |
|
Syndactyly, Short stature, Small hand, Abnormal heart morphology, Decreased circulating antibody ... |
ORPHA:1445 |
| Microcephaly-Micromelia Syndrome |
|
Wide nose, Micromelia, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis, Oligohy... |
OMIM:251230 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Bronchitis, Abnormality of the spleen, Abnormality of... |
ORPHA:2552 |
| Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxida... |
ORPHA:277 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Absence of pectoralis minor muscle, Patellar hypoplasia, Clinodactyly of the 5th ... |
OMIM:161200 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Toe syndactyly, Depressed nasal bridge, Short stature,... |
OMIM:241800 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Telecanthus, Dental crowding, Hypertelorism, High palate, Narrow mouth, Short nose, Downslanted p... |
OMIM:615539 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, Renal salt was... |
OMIM:602522 |
| Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
| Meckel Syndrome 12 |
|
Anteverted nares, Ureteral hypoplasia, Rocker bottom foot, Renal hypoplasia, Antecubital pterygiu... |
OMIM:616258 |
| Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Abnormal urine potas... |
ORPHA:411634 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Proteinuria, Ventricular septal defect, Congenital diaphragmatic hernia, Depressed n... |
ORPHA:2143 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Bilateral cryptorchidism, Depressed nasal ridge, Broad... |
OMIM:613451 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Skeletal muscle atrophy, Bronchiectasis, Decreased ... |
ORPHA:477814 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Maternal diabetes, Hepatic steatosis, Loss of facial adipose tissue, Hepatomegaly, ... |
ORPHA:79083 |
| Al Amyloidosis |
|
Nonproductive cough, Dyspnea, Xerostomia, Weight loss, Macroglossia, Abnormal salivary gland morp... |
ORPHA:85443 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Small for gestational age, Rocker bottom foot, Camptodactyly of finger, Prominent nose, Death in ... |
OMIM:610756 |
| Marshall Syndrome |
|
Cataract, Sparse eyelashes, Ectopia lentis, Sparse eyebrow, Micrognathia, Hypoplasia of the maxil... |
ORPHA:560 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Torticollis, Cryptorchidism, Oligozoospermia, Pyelonephritis, Keloids, ... |
OMIM:314300 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy, Ptosis |
ORPHA:101150 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Hypertelorism, Bilateral cryptorchidis... |
OMIM:619859 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Dexamethasone-suppressible primary hy... |
ORPHA:403 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Abnormality of the dentition, Microspherophakia, Deep anterior cham... |
OMIM:251750 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Cleft soft p... |
OMIM:616331 |
| Lassa Fever |
|
Menometrorrhagia, Miscarriage, Cough, Dyspnea, Jaundice, Facial edema, Oliguria, Increased circul... |
ORPHA:99824 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Neonatal respiratory distress, High palate, Hypotelorism |
OMIM:619053 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Cleft soft palate, Broad nasal tip, Abnormality of the dentition, Hypertelorism... |
OMIM:618529 |
| Coffin-Siris Syndrome 12 |
|
Synophrys, Hypotelorism, Deeply set eye, High palate, Depressed nasal bridge, Anteverted nares, H... |
OMIM:619325 |
| Bartsocas-Papas Syndrome |
|
Median cleft lip, Underdeveloped nasal alae, Ankyloblepharon, Cleft palate, Sparse or absent eyel... |
ORPHA:1234 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect, Polyhydramnios, Wide nasal bridge, Buphthalmos, Joint contracture, High pal... |
OMIM:618005 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Depressed nasal bridge, Penile freckling, Hurthle cell thyroid adenoma, Pre... |
ORPHA:210548 |
| Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Anteverted nares, Depressed... |
ORPHA:93329 |
| Nablus Mask-Like Facial Syndrome |
|
High palate, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Hypertelorism, Abse... |
OMIM:608156 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Epicanthus, Depressed nasal bridge, Small for gestational age, Hypotelorism, ... |
OMIM:618500 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Tetrasomy 18P |
|
Epicanthus, Narrow mouth, Thin vermilion border, Long philtrum, Short nose, Downslanted palpebral... |
ORPHA:3307 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Prominent eyelashes, Upslanted palpebral fissure, Thin vermilion ... |
OMIM:616420 |
| Myotonic Dystrophy 2 |
|
Weakness of facial musculature, Oligozoospermia, Decreased circulating total IgM, Hypogonadism, T... |
OMIM:602668 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Short stature, External genital hypoplasia, Pneumonia, Tapered finger, Cryptorchidism, Abnormal h... |
ORPHA:1867 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Dubowitz Syndrome |
|
Aplastic anemia, Hypoplasia of the iris, High palate, Otitis media, Clinodactyly of the 5th finge... |
OMIM:223370 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Wide nose, Abnormal eyelash morphology, Sparse eyebrow, Recurren... |
ORPHA:2399 |
| Keipert Syndrome |
|
Epicanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Hypoplasia of the maxilla, Ptosis |
ORPHA:2662 |
| Pauci-Immune Glomerulonephritis |
|
Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Cough, ... |
ORPHA:93126 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Al-Raqad Syndrome |
|
Thin upper lip vermilion, Short nose, Deeply set eye, Narrow mouth |
OMIM:616459 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Brachydactyly, Micromelia, Split hand, Cleft palate, Aplasia/Hypoplasia of the... |
ORPHA:2145 |
| Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Bicarbonaturia, Dehydration, Nephrocalcinosis, Aminoaciduria, ... |
ORPHA:47159 |
| 1Q21.1 Microdeletion Syndrome |
|
High palate, Clinodactyly of the 5th finger, Vesicoureteral reflux, Broad hallux phalanx, Short s... |
ORPHA:250989 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Micro Syndrome |
|
Hypoplasia of penis, Anteverted nares, Short stature, Cryptorchidism, Hypoplastic labia minora, W... |
ORPHA:2510 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Short stature, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Hypertelorism, Proptosis... |
OMIM:618961 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Wide nose, Osteomyelitis, Recurrent skin infections, Eczema, Eo... |
OMIM:618282 |
| Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Upslanted pal... |
ORPHA:1790 |
| Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Underdeveloped nasal alae, Wide nasal bridge, Upper eyelid colo... |
OMIM:613456 |
| Scedosporiosis |
|
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... |
ORPHA:449280 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... |
OMIM:617091 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Pneumonia... |
ORPHA:436159 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Dextrocardia, S... |
OMIM:615444 |
| Achondrogenesis Type 1B |
|
Anteverted nares, Polyhydramnios, Micromelia, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, S... |
ORPHA:93298 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Small for gestational age, Abnormal external nose morphology, Hypotelorism, H... |
ORPHA:556955 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Tapered finger, Respiratory tract infection, Long fingers, Flexion contr... |
OMIM:218000 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
| Achondrogenesis |
|
Anteverted nares, Polyhydramnios, Micromelia, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, U... |
ORPHA:932 |
| Acromesomelic Dysplasia 3 |
|
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... |
OMIM:609441 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Hypotelorism, Deeply set eye,... |
OMIM:616541 |
| Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Cryptorchidism, Wide nasal bridge, Ankyloblep... |
OMIM:612651 |
| Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Microp... |
OMIM:619189 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Epicanthus, Sandal gap, Depressed nasal bridge, Supernumerary nipple, Abnorm... |
ORPHA:1812 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Small for gestational age |
OMIM:245570 |
| Braddock-Carey Syndrome 2 |
|
Bulbous nose, Cleft palate, Microphthalmia, Clinodactyly, Downslanted palpebral fissures, Thrombo... |
OMIM:619981 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Death in infancy, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... |
OMIM:619446 |
| Meier-Gorlin Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Depressed nasal ridge, Simplified gyral pa... |
OMIM:616835 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Sandal gap, Cachexia, Tapered finger, Wide nasal bridge, Microphthalmia, D... |
ORPHA:1438 |
| Chops Syndrome |
|
Chronic lung disease, Ventricular septal defect, Anteverted nares, Tracheomalacia, Short stature,... |
OMIM:616368 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... |
ORPHA:2547 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... |
ORPHA:183675 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Epicanthus, Tented upper lip vermilion, Palpebral edema, Depressed nasal bridge, Bulbous nose, Ma... |
ORPHA:261144 |
| Tetrasomy 9P |
|
Myositis, Biliary atresia, Inappropriate behavior, High palate, Clinodactyly of the 5th finger, I... |
ORPHA:3310 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Renal insufficiency, Hypoplasia of penis, Failure to thrive, Anteverted nares, Highly arched eyeb... |
ORPHA:96147 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure, Lethargy |
OMIM:619386 |
| 22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Polyhydramnios, Abnormal eyelid morphology, Abnormal lung lobation, Hyp... |
ORPHA:567 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Downturned corners of mouth, Deeply set eye, Thin vermilion border, Short philtrum, Hypogonadism,... |
ORPHA:2983 |
| H Syndrome |
|
Microcytic anemia, Hernia, Micropenis, Psoriasiform dermatitis, Short stature, Abnormality of the... |
ORPHA:168569 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Epicanthus, Depressed nasal bridge, Anteverted nares, Bilateral ptosis, Hypotelorism, High palate... |
OMIM:619743 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters |
OMIM:226650 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Optic atrophy, Retinal dystrophy, Ventricular septal defect |
ORPHA:49827 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Dilated cardiomyopathy, Microphtha... |
OMIM:618805 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Foot joint contracture, Achilles tendon contracture, Aplasia/Hyp... |
ORPHA:456312 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnormal morphology of ulna,... |
ORPHA:2639 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... |
ORPHA:3085 |
| Wilson Disease |
|
Hepatomegaly, Abnormality of the menstrual cycle, Aggressive behavior, Hypersexuality, Splenomega... |
ORPHA:905 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Highly arched eyebrow, Underdeveloped nasal alae, Cryptorchidism, Bulbo... |
OMIM:615803 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure... |
OMIM:605711 |
| Alg12-Cdg |
|
Proximal placement of thumb, Edema, Polyhydramnios, Recurrent hypoglycemia, Clinodactyly of the 5... |
ORPHA:79324 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Renal cyst, Atrial septal defect, Micropenis, Multicystic kidney dysplasia, Hyposp... |
OMIM:257300 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Depressed nasal bridge, Choanal atresia, Bicuspid aortic valve, Ventricu... |
ORPHA:284169 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Arachnodactyly, Iridocyclitis, Unsteady gait, Truncal ataxia, Limb ataxia, Distal amyotrophy, Hyp... |
ORPHA:412057 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| 20Q11.2 Microduplication Syndrome |
|
Bifid scrotum, Epicanthus, Inguinal hernia, Palpebral edema, Anteverted nares, Depressed nasal br... |
ORPHA:363659 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform dermatitis, De... |
OMIM:606367 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Obesity, Primary ameno... |
OMIM:610628 |
| Vici Syndrome |
|
Epicanthus, Wide nose, Depressed nasal bridge, Median cleft lip, Everted upper lip vermilion, Cle... |
OMIM:242840 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Unilateral ptosis, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Choanal atresia, ... |
OMIM:301044 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Agitation, Fasting hy... |
ORPHA:276608 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Death in childhood |
OMIM:246900 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Vaginal neoplasm, Pelvic mass, Neoplasm of the live... |
ORPHA:2126 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Accessory spleen, Short stature, El... |
OMIM:618419 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b... |
OMIM:201750 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Inguinal hernia, Hypogonadotropic hypogonadism, Choanal at... |
ORPHA:1135 |
| Waardenburg Syndrome Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Tented upper lip vermilion, Aganglionic megacolon, U... |
ORPHA:894 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
| Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Proximal placement of thumb, Larg... |
OMIM:229850 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure... |
OMIM:614299 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Small for gest... |
OMIM:613320 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Abnormal lens morphology, Hypoplasia of the maxilla, Abno... |
ORPHA:363417 |
| Fanconi Anemia, Complementation Group C |
|
Ectopic kidney, Flexion contracture, Reticulocytopenia, Neutropenia, Intrauterine growth retardat... |
OMIM:227645 |
| Galloway-Mowat Syndrome 9 |
|
Almond-shaped palpebral fissure, Hypertelorism, Hypotelorism, Hiatus hernia |
OMIM:619603 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... |
OMIM:616481 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility, Reduced forced vital capacity, Respiratory i... |
OMIM:619518 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Primary amenorrhea, Hypotelorism, Depression, High palate, Increased circulating prolactin concen... |
ORPHA:502423 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Trisomy 18 |
|
Congenital diaphragmatic hernia, Hernia, Atrial septal defect, Short stature, Abnormality of the ... |
ORPHA:3380 |
| Achondrogenesis Type 1A |
|
Anteverted nares, Polyhydramnios, Micromelia, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, S... |
ORPHA:93299 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Conical tooth, Carious teeth, Lacrimal duct atresia, Lacrimal duct aplas... |
OMIM:620192 |
| Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Pelvic... |
OMIM:227646 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
| Leopard Syndrome 1 |
|
Depressed nasal ridge, Aplasia of the ovary, Micropenis, Spina bifida occulta, Scapular winging, ... |
OMIM:151100 |
| Fanconi Anemia, Complementation Group A |
|
Ectopic kidney, Reticulocytopenia, Neutropenia, Male infertility, Short stature, Cryptorchidism, ... |
OMIM:227650 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Lipodystrophy, Increas... |
OMIM:618048 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Polyhydramnios,... |
OMIM:614080 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Underdeveloped nasal alae, Cleft upper lip, Hypertelorism, Ankyloblepharon, Orofacia... |
OMIM:229400 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Prominent nasal bridge, Rocker bottom foot, Camptodactyly of finger... |
OMIM:610758 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... |
OMIM:150550 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 l... |
OMIM:619773 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Epicanthus, Intestinal malrotation, Cryptorchidism, Hypotelorism, Wide mouth, Downslanted palpebr... |
OMIM:617798 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Lethargy, Hypogonadism, Ptosis |
ORPHA:254913 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... |
OMIM:603909 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Hydrocephalus, Double outlet right ventricle, Coloboma, H... |
OMIM:220210 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Deh... |
ORPHA:411629 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility, Ataxia |
OMIM:613909 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Cryptorchidism, Hydroc... |
ORPHA:77298 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Optic atrophy,... |
OMIM:610198 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion... |
OMIM:619854 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy, Impotence, Hypogonadism |
ORPHA:79230 |
| Distal Deletion 9P |
|
Epicanthus, Abnormality of the dentition, Hypertelorism, High, narrow palate, Wide nasal bridge, ... |
ORPHA:1642 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Cleft palate, Downturned cor... |
ORPHA:163649 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Ileal atresia, Micropenis, Syndactyly, Streak ovary, Hypospadias, Cryp... |
OMIM:618820 |
| Idiopathic Intracranial Hypertension |
|
Focal sensory seizure with olfactory features, Lethargy, Obesity, Depression |
ORPHA:238624 |
| Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis, Lipodystrophy |
OMIM:305800 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Epicanthus, Hypospadias, Eczema, Ventricular septal defect, Absent thumb,... |
ORPHA:96097 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Clubbing, Intr... |
OMIM:610910 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... |
ORPHA:1164 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
| Ohdo Syndrome, X-Linked |
|
Small scrotum, Prominent nose, High palate, Micropenis, Depressed nasal bridge, Hiatus hernia, Sp... |
OMIM:300895 |
| Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Cleft palate, Split foot, Blepharophimosis, Microphthalmia, Short palpebral fissure |
OMIM:601349 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Calf muscle hypertrophy, Dysphagia, Limb muscle weakness, Testicular atrophy |
OMIM:313200 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
| Viss Syndrome |
|
Chronic gastritis, Polyhydramnios, High, narrow palate, Right ventricular dilatation, Increased c... |
OMIM:619472 |
| Atelis Syndrome 1 |
|
Ventricular septal defect, Eczema, Prominent nose, Thrombocytopenia, Bronchiectasis, Leukopenia, ... |
OMIM:620184 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Increa... |
OMIM:618459 |
| Degcags Syndrome |
|
Polyhydramnios, Oral-pharyngeal dysphagia, Prominent nose, Synophrys, Bilateral renal hypoplasia,... |
OMIM:619488 |
| Lowry-Maclean Syndrome |
|
Corneal opacity, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High... |
ORPHA:2409 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Bulbous... |
OMIM:618430 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr... |
OMIM:212550 |
| Pterygium Colli, Isolated |
|
Epicanthus, Short nose |
OMIM:177990 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... |
OMIM:600802 |
| Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Lethargy, Goiter |
OMIM:274400 |
| Trisomy 20P |
|
Hernia, Finger syndactyly, Hypospadias, Abnormality of the kidney, Highly arched eyebrow, Antever... |
ORPHA:261318 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Epicanthus, Hypertelorism, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft palat... |
OMIM:618571 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| Isolated Sedoheptulokinase Deficiency |
|
Neonatal asphyxia, Hypotelorism, Shallow orbits, Steatorrhea, Abnormality of globe location |
ORPHA:440713 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of eyelid, Convex nasal ridge, Optic nerve hypoplasia, Cleft soft palate, Intestinal m... |
OMIM:619321 |
| Hyperlysinuria With Hyperammonemia |
|
Lethargy, Malabsorption |
OMIM:238750 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Small for gestational age, Short stature, Malabsorption... |
OMIM:601675 |
| Goldberg-Shprintzen Syndrome |
|
Telecanthus, Highly arched eyebrow, Hypoplasia of the maxilla, Corneal erosion, Synophrys, Wide n... |
OMIM:609460 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating... |
ORPHA:314478 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Congenital diaphragmatic hernia, Sy... |
ORPHA:199 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Increased circulating interleukin 6 concentration, Microcytic anemia, Ca... |
OMIM:256040 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology |
OMIM:614954 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Wide nose, Epicanthus, Rhizomelia, Short metacarpal, Depressed nasal ridge, Coxa v... |
ORPHA:2831 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:604292 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Thrombocytopenia, Neutropenia, Microphthalmia, Leukemia, Anemia |
OMIM:614082 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cu... |
OMIM:619833 |
| Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Recu... |
ORPHA:1572 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening |
OMIM:241310 |
| 3Q29 Microdeletion Syndrome |
|
Bipolar affective disorder, Dental crowding, Prominent nasal bridge, Abnormality of the dentition... |
ORPHA:65286 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Hypotelorism |
ORPHA:2163 |
| Verheij Syndrome |
|
Branchial cyst, Anteverted nares, Optic nerve hypoplasia, Small for gestational age, Broad nasal ... |
OMIM:615583 |
| Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Decreased circulat... |
OMIM:241410 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation, Congenital dia... |
OMIM:601163 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Anteriorly placed anus, Clitoral hypoplasia, Pulmonary artery atresia, V... |
OMIM:616894 |
| Multifocal Atrial Tachycardia |
|
Dyspnea, Cryptorchidism, Tachypnea, Lethargy |
ORPHA:3282 |
| Deafness, X-Linked 7 |
|
Telecanthus, Unilateral microphthalmos, Wide nasal bridge, Thick eyebrow, Ptosis |
OMIM:301018 |
| Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
| Sotos Syndrome |
|
High, narrow palate, Increased body weight, Glucose intolerance, High palate, Otitis media, Atria... |
OMIM:117550 |
| Bardet-Biedl Syndrome 1 |
|
High, narrow palate, Hepatic fibrosis, High palate, Micropenis, Syndactyly, Ataxia, Abnormality o... |
OMIM:209900 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... |
ORPHA:231580 |
| Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Anosmia, Bronchiectasi... |
OMIM:244400 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Apneic episodes in infancy |
OMIM:610006 |
| 3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Proximal placement of thumb, Prominent nose, High, narrow palate, Knee f... |
ORPHA:435638 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Retinal detachment, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy... |
ORPHA:370959 |
| Warburg Micro Syndrome 2 |
|
Small scrotum, Overlapping toe, Prominent nasal bridge, Postnatal growth retardation, Cryptorchid... |
OMIM:614225 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r... |
OMIM:614679 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Absent circulating B cells, Recu... |
OMIM:620282 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Villous atrophy, Failure to thrive in infancy, Eczema, Oligoart... |
OMIM:619510 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435651 |
| Sarcoidosis, Susceptibility To, 1 |
|
Dyspnea, Enlarged lacrimal glands, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventilator... |
OMIM:181000 |
| Q Fever |
|
Respiratory distress, Rheumatoid factor positive, Anorexia, Abnormality of the liver, Cholecystit... |
ORPHA:781 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Epicanthus, Anteverted nares, Overlapping... |
ORPHA:3309 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
| Holoprosencephaly 9 |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Anterior pituitary... |
OMIM:610829 |
| Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Bilateral cryptorchidism, Cicatricial lagophthalmos, Flexion contracture, Ankylob... |
OMIM:263650 |
| Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... |
ORPHA:264675 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
| Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Morning glory anomaly, Hydrocephalus, Meningocele, Opti... |
OMIM:614424 |
| Nicolaides-Baraitser Syndrome |
|
High, narrow palate, Short metatarsal, Prominent interphalangeal joints, Gait ataxia, Sparse medi... |
OMIM:601358 |
| Silver-Russell Syndrome 3 |
|
Short stature, Unilateral cryptorchidism, Postnatal growth retardation, Patent ductus arteriosus,... |
OMIM:616489 |
| Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Epicanthus, Micrognathia, Wide nasal bridge, Hypoplasia of the iris, Astigmatism, H... |
ORPHA:2479 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Short toe, Abnormal femur morphology, Abnormal pelvic gi... |
ORPHA:429 |
| Cohen Syndrome |
|
Abnormal eyelid morphology, High, narrow palate, Neutropenia, Clinodactyly of the 5th finger, Fin... |
ORPHA:193 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Death in infancy, Ventricular septal defect |
OMIM:614876 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... |
OMIM:614779 |
| Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s... |
ORPHA:2357 |
| Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Long eyelashes, Short nose, Spina bifida occulta, Thick e... |
ORPHA:1514 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Urinary incontinence, Long nose, Self-biting, Clinodactyly of the 5th finger, Abnormal repetitive... |
OMIM:300912 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Bronchiectasis, De... |
OMIM:193670 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Esophageal atre... |
OMIM:610536 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Dihydropyrimidinase Deficiency |
|
Lethargy, Anal atresia |
OMIM:222748 |
| Isolated Ectopia Lentis |
|
Mandibular prognathia, Cataract, Ectopia lentis, Ectopia pupillae, Malar flattening |
ORPHA:1885 |
| Fetal Alcohol Syndrome |
|
Atrial septal defect, Epicanthus, Telecanthus, Anteverted nares, Congenital diaphragmatic hernia,... |
ORPHA:1915 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Lethargy, Failure to thrive |
ORPHA:79312 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
| Desmosterolosis |
|
Micromelia, Pachygyria, Bifid uvula, Depressed nasal bridge, Patent ductus arteriosus, Abnormalit... |
ORPHA:35107 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Chronic... |
ORPHA:1507 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Non... |
OMIM:608013 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Polyhydramnios, Synophrys, Tracheoesophageal fistula, Cleft pa... |
ORPHA:261272 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Immoti... |
OMIM:614935 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
| Mosaic Trisomy 1 |
|
Congenital diaphragmatic hernia, Polyhydramnios, Renal cyst, Finger clinodactyly, Congenital bila... |
ORPHA:1692 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
| Developmental And Epileptic Encephalopathy 1 |
|
Dyspnea, Choreoathetosis, Growth delay, Dysphagia, Microphthalmia, Micropenis |
OMIM:308350 |
| Toluene Embryopathy |
|
Epicanthus, Short stature, Tapered finger, Cryptorchidism, Abnormal localization of kidney, Short... |
ORPHA:1920 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Iris atrophy, Long eyebrows, Cleft upper lip, Wide nasal bridge, Cleft pal... |
OMIM:201180 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Prominent nose, Synophrys, Hypotelorism, Deeply set eye, Widely spaced teeth, High palate, Microd... |
OMIM:612474 |
| Cortisone Reductase Deficiency 1 |
|
Acne, Precocious puberty, Obesity, Infertility, Oligomenorrhea |
OMIM:604931 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Failure to thrive, Depressed nasal bridge, Edema, Pericardial effusion, Hepatosplen... |
OMIM:608776 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Dys... |
ORPHA:2348 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... |
ORPHA:435660 |
| Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Polyhydramnios, Bicuspid pulmonary valve, Clitoral hypoplasia, ... |
ORPHA:709 |
| Gm1 Gangliosidosis |
|
Depressed nasal ridge, Hydrops fetalis, Aspiration pneumonia, Infectious encephalitis, Ataxia, De... |
ORPHA:354 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypotelorism, Downturned corners of mouth, Deeply set eye, Hypoplasia of the thymus, Absent eyebr... |
OMIM:264090 |
| Fryns Syndrome |
|
Congenital diaphragmatic hernia, Polyhydramnios, High palate, Clinodactyly of the 5th finger, Ves... |
ORPHA:2059 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
| Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... |
ORPHA:1359 |
| Roifman-Chitayat Syndrome |
|
Short metacarpal, Depressed nasal bridge, Pneumonia, Lacrimal duct stenosis, Short metatarsal, Wi... |
OMIM:613328 |
| Bloom Syndrome |
|
Prominent nose, Clinodactyly of the 5th finger, Decreased circulating IgG level, Hepatic steatosi... |
OMIM:210900 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Myocardi... |
OMIM:253800 |
| Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Large for gestational age, Gonadotropin defici... |
ORPHA:672 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Episodic tachypnea, Hypertelorism, Apneic episodes in infancy, Short nose, Meck... |
ORPHA:163961 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Edema, Pulmonary embolism, Abnormality of the menstrual cycle, Microcytic anemia, P... |
ORPHA:90308 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Micropenis, Abnormal repetitive mannerisms, Hypospadias, Anteverted nares, Depressed nasal bridge... |
OMIM:301040 |
| Noonan Syndrome 8 |
|
Epicanthus, Left ventricular hypertrophy, Eczema, Ventricular septal defect, Large for gestationa... |
OMIM:615355 |
| Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Subcutaneous lipoma, Cryptorchidism, Hypoplasia ... |
OMIM:613001 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... |
OMIM:619752 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
| Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Arthritis, Impotence, Cardiomyopathy, Cirrhosis, Neutropenia, Lymp... |
OMIM:604250 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Polydipsia, Decreased circulat... |
OMIM:613677 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Inability to walk, Polla... |
ORPHA:268 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusi... |
OMIM:240500 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Polyhydramnios, Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, O... |
OMIM:160900 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Reduced intraabdominal adipose ... |
ORPHA:363400 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thromb... |
OMIM:102700 |
| Hyperlysinemia |
|
Recurrent pneumonia, Depressed nasal ridge, Hypotelorism, High palate, Thin eyebrow, Failure to t... |
ORPHA:2203 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Pancolitis, Hypotelorism, Inflammation of the large intestine, Oral leukopl... |
OMIM:620133 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, P... |
OMIM:213980 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Re... |
OMIM:602450 |
| Spondylo-Ocular Syndrome |
|
Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect |
ORPHA:85194 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Tongue fasciculations, Death in childhood, Neo... |
OMIM:614922 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
| Temtamy Syndrome |
|
Telecanthus, Brachydactyly, Short toe, Clinodactyly of the 5th finger, Microphthalmia, Convex nas... |
ORPHA:1777 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Highly arched eyebro... |
OMIM:239300 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Tented upper lip vermilion, Short philtrum |
ORPHA:85277 |
| Crouzon Syndrome |
|
Hypoplasia of the maxilla, Narrow palate, Conjunctivitis, Iris coloboma, Ptosis |
ORPHA:207 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Epicanthus, Wide nose, Camptodactyly of finger, Eczema, U... |
ORPHA:284160 |
| Pseudotrisomy 13 Syndrome |
|
Cleft upper lip, Cryptorchidism, Hypotelorism, Upslanted palpebral fissure, Cyclopia, Anal atresi... |
OMIM:264480 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Wide nasal bridge, Cleft palate, Proptosis, Narrow mouth, Short nose |
OMIM:614078 |
| X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum |
ORPHA:93945 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Pituitary adenoma, Hy... |
OMIM:300942 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... |
OMIM:278760 |
| Weiss-Kruszka Syndrome |
|
Epicanthus, Anteverted nares, Bicuspid aortic valve, Highly arched eyebrow, Proximal placement of... |
OMIM:618619 |
| Beaulieu-Boycott-Innes Syndrome |
|
Micrognathia, Long nose, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Upslan... |
OMIM:613680 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Death in infancy, Anteverted nares, Periventricular nodular heterotopia, ... |
OMIM:619135 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational... |
OMIM:600901 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Recurrent otiti... |
OMIM:620032 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... |
OMIM:615779 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Intestinal malrotation, Cryptorchidism, Cleft palate, Orofacial cleft, Hypotelorism, Absent nares... |
ORPHA:2166 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... |
ORPHA:268261 |
| Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... |
OMIM:601859 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
High, narrow palate, Male urethral meatus stenosis, Atrial septal defect, Finger syndactyly, Hypo... |
ORPHA:464738 |
| Bone Marrow Failure Syndrome 5 |
|
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,... |
OMIM:618165 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Short clavicles, Hypoplastic pelvis |
OMIM:618022 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... |
OMIM:615925 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Epicanthus, Anteverted nares, Downturned corners of mouth, Proptosis, Thick vermilion border, Sho... |
ORPHA:1185 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Highly arched eyebrow, Open mouth, Downturned corners of mouth, Widely sp... |
OMIM:617865 |
| Oculofaciocardiodental Syndrome |
|
Prominent nasal bridge, Highly arched eyebrow, Intestinal malrotation, Bifid nasal tip, Short thu... |
ORPHA:2712 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Epicanthus, Small for gestational age, Tracheoesophageal fistula, High ... |
OMIM:277380 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Tapered finger, Patent ... |
OMIM:613870 |
| Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Epicanthus, Depressed nasal bridge, Supernumerary nipple, Sparse eyebrow, Synophrys, Bulbous nose... |
OMIM:620098 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Kallmann Syndrome |
|
Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Ataxia, Cryptorchidism, Obesity, ... |
ORPHA:478 |
| Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea,... |
ORPHA:178320 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
| Nephronophthisis 11 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... |
ORPHA:83461 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Intrauterine growth ... |
OMIM:616276 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Depress... |
ORPHA:163966 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodonti... |
ORPHA:534 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Autoimmune antibody positivity, Pituitar... |
ORPHA:99832 |
| Lymphoid Interstitial Pneumonia |
|
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect... |
ORPHA:79128 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Abnormal calcification of the carpal bones, Aplasia of the 4th finger, ... |
ORPHA:93320 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Epicanthus, Pancreatic fibrosis, Micromelia, Postaxial hand poly... |
OMIM:200995 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... |
ORPHA:968 |
| Pituitary Stalk Interruption Syndrome |
|
Death in infancy, Hypoplasia of penis, Ectopic posterior pituitary, Hypoglycemia, Septo-optic dys... |
ORPHA:95496 |
| Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Optic atrophy |
OMIM:617255 |
| Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology |
ORPHA:1508 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Ureteral stenosis, Arachnodactyly, Ataxia, Anteverted nares, Depressed nasal bri... |
ORPHA:2719 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, Polyhydramnios, High,... |
ORPHA:373 |
| Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Conical tooth, Sparse eyebrow, Hypoplasia of the maxil... |
OMIM:129400 |
| Gray Platelet Syndrome |
|
Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
| Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate, Hypotelorism |
OMIM:604757 |
| Poems Syndrome |
|
Edema, Acrocyanosis, Polycythemia, Hypothyroidism, Abnormality of the endocrine system, Pericardi... |
ORPHA:2905 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Epicanthus, Small scrotum, Hypospadias, Inguinal hernia, Edema, Short stature, Cryptorchidism, Cl... |
ORPHA:2505 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Hypertelorism,... |
OMIM:614749 |
| Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
| Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Protruding tongue, Hypertelorism, Gingival overgrowth, Proptos... |
ORPHA:561 |
| Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Anteverted nares, Aganglionic megacolon, Blepharophimosis, Eyelid colobo... |
ORPHA:3339 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus |
OMIM:610947 |
| Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
| Temtamy Syndrome |
|
Dental crowding, Highly arched eyebrow, Ectopia lentis, Lens luxation, Micrognathia, Hypoplasia o... |
OMIM:218340 |
| Citrullinemia Type I |
|
Lethargy, Failure to thrive, Tachypnea |
ORPHA:247525 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
| Filippi Syndrome |
|
Ventricular septal defect, Cryptorchidism, Optic atrophy, Ambiguous genitalia, Intrauterine growt... |
OMIM:272440 |
| Hypoplastic Left Heart Syndrome |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia |
ORPHA:2248 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Renal cyst, Tibial bowing, Anteriorly placed anus, Choanal stenosis, High p... |
ORPHA:798 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Bicuspid aortic valve, Short stature, Bilateral microphthalmos, Unilateral mic... |
OMIM:619318 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Decreased ... |
OMIM:618063 |
| Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormal eyelid morphology, Hypoplasia of the maxilla, Abnormality of the dentition... |
ORPHA:2095 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Short nose, Hypertelorism |
OMIM:266810 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Functional abnormality of the bladder, High palate, Tapered finger, Crypto... |
ORPHA:2953 |
| Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis medi... |
OMIM:604571 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Short nose, Ope... |
OMIM:619356 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
| Scalp-Ear-Nipple Syndrome |
|
Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Palpebral edema, Lower eyelid ... |
OMIM:181270 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Aplastic zygomatic arch, Micrognathia, Hypoplasia of the maxilla, Lower eyelid colobo... |
OMIM:616462 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ... |
OMIM:157640 |
| Au-Kline Syndrome |
|
High palate, Shallow orbits, Clinodactyly of the 5th finger, Vesicoureteral reflux, Bifid uvula, ... |
OMIM:616580 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Depressed nasal bridge, Autoimmune antibody positivity, Pituitary hypothyroidism, Depression, Mac... |
ORPHA:90674 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Abnormal size of the palpebral fissures, Macrodontia, High, narrow pal... |
ORPHA:3214 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
| Hartsfield Syndrome |
|
Epicanthus, Wide nose, Median cleft lip, Cleft upper lip, Hypertelorism, Cryptorchidism, Gonadotr... |
OMIM:615465 |
| Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology, Ptosis |
ORPHA:1540 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Epicanthus, Intermittent hyperventilation, Prominent nasal bridge, Broad nasal tip, Hypertelorism... |
OMIM:300749 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Miscarriage, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin resistance,... |
OMIM:613877 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Congenital diaphragmatic hernia, High palate, Atrial septal defect, Vesicoureteral... |
ORPHA:2745 |
| Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Inte... |
OMIM:244450 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... |
ORPHA:79126 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Sinusitis, Long nose, T lymphocytopenia, Hyperactivity, Premature ov... |
OMIM:251260 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Isosexual precocious puberty, Abnormal vitreous humor morphology, Exudative r... |
ORPHA:2788 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of proximal phalanges... |
OMIM:300863 |
| Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... |
ORPHA:228119 |
| Fontaine Progeroid Syndrome |
|
Small scrotum, Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Synophrys, Hi... |
OMIM:612289 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Hypospadias, Anteverted nares, Highly arched eyebrow, Cleft sof... |
ORPHA:2282 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:618160 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
| Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal atresia, Dental crowding, Hypertelorism, Choanal stenosis, High p... |
OMIM:101600 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Stevenson-Carey Syndrome |
|
Prominent nasal tip, Anteverted nares, Central hypoventilation, Underdeveloped nasal alae, Campto... |
OMIM:611961 |
| Gorlin Syndrome |
|
Mandibular prognathia, Epicanthus, Cataract, Telecanthus, Carious teeth, Wide nasal bridge, Iris ... |
ORPHA:377 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Cardiomyopathy, Hypogonadism, Hepatic fibrosis,... |
OMIM:613313 |
| Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
| Van Esch-O'Driscoll Syndrome |
|
Shyness, Shallow orbits, Atrial septal defect, Clinodactyly of the 5th finger, Spina bifida occul... |
OMIM:301030 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Clubbing, Bronchiectasis, Macr... |
OMIM:618523 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Abnormality of the orbital region, Ups... |
ORPHA:468631 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Microme... |
ORPHA:166272 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Dysmenorrhea, Increased sarcoplasmic glycogen, Increased body weight, He... |
ORPHA:264580 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Aspiration pneumonia, Cough, Nephropathy, Abnormality of the female genitalia, Tracheobronchial l... |
ORPHA:1018 |
| Alstrom Syndrome |
|
Hepatic steatosis, Renal insufficiency, Chronic active hepatitis, Hypergonadotropic hypogonadism,... |
OMIM:203800 |
| 19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Ma... |
ORPHA:357001 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... |
OMIM:151660 |
| Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Supernumerary nipple, Cryptorchidism, Bulbous nose, Deep ph... |
OMIM:613884 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement ... |
ORPHA:93267 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Intrauterine growth retardation, Patent foramen ovale, Abnormal retinal mor... |
ORPHA:89844 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:95626 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Sparse eyelashes, Short stature, Sparse eyebrow, Bifid nasal tip, Unilateral microph... |
OMIM:618874 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Blepharophimosis, Absent radius, Wide na... |
ORPHA:1352 |
| Seckel Syndrome 2 |
|
Small for gestational age, Hypospadias, Short stature, Prominent nose, Ectopic kidney, Growth del... |
OMIM:606744 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Polyhydramnios, High palate, Compulsive behaviors, Otitis media, Vesicoure... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Polyhydramnios, High palate, Compulsive behaviors, Otitis media, Vesicoure... |
ORPHA:353277 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Secundum atrial septal defect, Recurrent ... |
OMIM:614868 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Anteverted nares, Dental crowding, Synophrys, Pierre-Robin sequence, An... |
OMIM:617877 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otit... |
OMIM:614017 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Inguinal hernia, Hypospadias, Short stature, Cryptorchidism, Small hand, Short... |
ORPHA:1786 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Short stature, Decreased response to growth hormon... |
OMIM:307200 |
| Antley-Bixler Syndrome |
|
Anteverted nares, Choanal atresia, Hypertelorism, Cleft palate, Proptosis, Narrow mouth, Short no... |
ORPHA:83 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tibial bowing, ... |
ORPHA:240 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Recurrent upper res... |
OMIM:618944 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... |
ORPHA:411703 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Esophageal stricture, Clubbing, Bronchiectasis, Cheilitis, ... |
OMIM:615468 |
| Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid coloboma, High palate, Iris colobom... |
ORPHA:861 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Elevated circulating thyroid-stimulating hormone concentration... |
OMIM:101800 |
| Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... |
OMIM:271500 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Micromelia |
ORPHA:291 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Epicanthus, Underdeveloped nasal alae, Cryptorchidism, Wide nasal b... |
OMIM:614230 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Epicanthus, Depressed nasal bridge, Increased nuchal translucency, Depresse... |
OMIM:608022 |
| Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ... |
OMIM:251450 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... |
OMIM:243700 |
| Timothy Syndrome |
|
Depressed nasal bridge, Pneumonia, Bronchitis, Cardiomegaly, Ventricular septal defect, Cutaneous... |
OMIM:601005 |
| Cohen Syndrome |
|
Chorioretinal dystrophy, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short phil... |
OMIM:216550 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, P... |
ORPHA:90790 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Inguinal hernia, Hypospadias, Ventricular septal defect, Anteverted nares, Microphtha... |
OMIM:616449 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Downslanted palpebral fissures, Apnea, Shallow orbits |
ORPHA:1129 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Abnormal renal tubular resorption, Dilated cardiomyopathy, Hypercalciuria, ... |
ORPHA:73224 |
| Cardiofaciocutaneous Syndrome |
|
Lymphedema, High palate, Atrial septal defect, Anteverted nares, Abnormal morphology of ulna, Dep... |
ORPHA:1340 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Pneumonia, Pure red cell aplasia, Auto... |
OMIM:613179 |
| Trichothiodystrophy |
|
Epicanthus, Hypertelorism, Carious teeth, High, narrow palate, Cryptorchidism, Hypotelorism, Kera... |
ORPHA:33364 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Telecanthus, Choanal atresia, Optic nerve hypoplasia, Broad proximal phalanges of the hand, High,... |
OMIM:607597 |
| Helix Syndrome |
|
Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Xerostomia, Nephrolithiasis, Hypo... |
OMIM:617671 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Recurrent respiratory infections, Increased circulating IgE leve... |
OMIM:615767 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Marshall-Smith Syndrome |
|
Apnea, Bilateral cryptorchidism, Synophrys, Distal widening of metacarpals, Coxa vara, Anteriorly... |
OMIM:602535 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxyge... |
ORPHA:60025 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Death in childhood |
OMIM:613759 |
| Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, D... |
OMIM:219700 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy, Failure to thrive |
ORPHA:927 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Synophrys, Tracheobronchomalacia, Deeply set eye, Microdontia, Bifid ... |
OMIM:613458 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Productive cough, T... |
ORPHA:520 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Renal cyst, Lobulated tongue, Short tibia, Encephalocele, R... |
OMIM:616300 |
| Galloway-Mowat Syndrome |
|
Hypotelorism, Hypertelorism, Abnormality of the dentition, Hiatus hernia |
ORPHA:2065 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Hypertelorism, Wide nasal bridge, Long philtrum, Short ... |
OMIM:616430 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Compulsive behaviors, Otitis media, Vesicoureteral reflux, Atrial septal d... |
ORPHA:353281 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy, Failure to thrive |
OMIM:236270 |
| Macs Syndrome |
|
Epicanthus, Hypergonadotropic hypogonadism, Palpebral edema, Short stature, Sparse eyebrow, Crypt... |
OMIM:613075 |
| 16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Anteverted nares, Clef... |
ORPHA:261236 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Epicanthus, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Lymphedema, Upslanted palp... |
OMIM:152950 |
| Codas Syndrome |
|
Epicanthus, Short metacarpal, Anteverted nares, Depressed nasal bridge, Brachydactyly, Ventricula... |
ORPHA:1458 |
| Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Polyhydramnios, Abnormal tibia morphology, Eyelid coloboma, Compulsi... |
ORPHA:138 |
| Osteoglophonic Dysplasia |
|
Respiratory distress, Short metatarsal, High palate, Shallow orbits, Short palm, Short phalanx of... |
OMIM:166250 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Respiratory distress, Palpebral edema, Polyhydramnios, Micromelia, Short nose... |
ORPHA:50810 |
| Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Weight loss |
OMIM:143880 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulonephritis, Con... |
OMIM:619525 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal end... |
OMIM:144750 |
| Adams-Oliver Syndrome |
|
Leukopenia, Pulmonary artery atresia, Encephalocele, Finger syndactyly, Portal hypertension, Cong... |
ORPHA:974 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Glucose intolerance |
ORPHA:75563 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Respiratory insufficiency, Glossoptosis, Blepharophi... |
ORPHA:2031 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of ha... |
ORPHA:544503 |
| Melioidosis |
|
Pneumonia, Acute infectious pneumonia, Abnormal parotid gland morphology, Prostatitis, Parotitis |
ORPHA:31202 |
| Cenani-Lenz Syndrome |
|
Ptosis, Abnormal dental enamel morphology, Hypertelorism, High, narrow palate, Proptosis, Short p... |
ORPHA:3258 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Lethargy, Failure to thrive |
OMIM:212140 |
| Carey-Fineman-Ziter Syndrome |
|
Epicanthus, Anteverted nares, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft pala... |
ORPHA:1358 |
| Lujan-Fryns Syndrome |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, High pala... |
ORPHA:776 |
| Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Fetal... |
ORPHA:264450 |
| Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Depressed nasal bridge, Lethargy, Goiter |
ORPHA:95716 |
| Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-... |
OMIM:619652 |
| Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Hypopituitarism, Depressed nasal bridge, Anteverted nares, Anterior pituitary hypoplasia, Reduced... |
OMIM:613038 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Iris coloboma, Coloboma |
OMIM:610023 |
| Jeune Syndrome |
|
Toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped epiphysis, Ab... |
ORPHA:474 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Dysmenorrhea, Ketotic hypoglycemia, Limb-girdle muscle weakness, Increas... |
ORPHA:79240 |
| Peho Syndrome |
|
Epicanthus, Edema of the dorsum of feet, Edema, Edema of the dorsum of hands, Tapered finger, Sho... |
OMIM:260565 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Cardiomegaly |
ORPHA:85447 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Abnormal carpal morphology, Hypoplasia of the cap... |
ORPHA:85166 |
| Goodpasture Syndrome |
|
Nodular pattern on pulmonary HRCT, Crackles, Tachypnea, Cough, Anti-glomerular basement membrane-... |
OMIM:233450 |
| Cat Eye Syndrome |
|
Ventricular septal defect, Microphthalmia, Patent ductus arteriosus, Hypoplastic left heart, Tota... |
OMIM:115470 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Corneal opacity, Micrognathia |
OMIM:166300 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Anteverted nares, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites |
OMIM:269920 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Long nose, High palate, Clinodactyly of the 5th finger,... |
OMIM:619522 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Polyh... |
ORPHA:3301 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
| 3Mc Syndrome 2 |
|
Prominence of the premaxilla, Highly arched eyebrow, Cleft upper lip, Wide nasal bridge, Cleft pa... |
OMIM:265050 |
| Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis med... |
OMIM:613193 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Dextrocardia,... |
OMIM:606763 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Decreased response to growth hormone stimulation test, Apnea, Prominent nose, Sy... |
OMIM:619503 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Bulbous nose, Narrow palate, Respiratory ... |
OMIM:608836 |
| Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Small hand, Antecubital pterygium, Ankyloblepharon, Bilateral cl... |
OMIM:619339 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi... |
OMIM:202010 |
| Hydrolethalus |
|
Anophthalmia, Micromelia, Polyhydramnios, Cryptorchidism, Postaxial hand polydactyly, Submucous c... |
ORPHA:2189 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Death in infancy, Necrotizing enterocolitis, Tachypnea, Respiratory arrest, Lethargy |
OMIM:201475 |
| Congenital Myopathy 11 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:619967 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Depressed nasal bridge, Choanal atresia, Portal hypertension, Hi... |
OMIM:610199 |
| Propionic Acidemia |
|
Lethargy, Failure to thrive, Tachypnea, Apnea |
OMIM:606054 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Anteriorly placed anus, High palate, Short palm, Absent eyebrow, Depressed nasal bridge, Short st... |
OMIM:268400 |
| Neuhauser Syndrome |
|
Iridodonesis, Epicanthus, Micrognathia, Wide nasal bridge, Hypoplasia of the iris, High palate, L... |
OMIM:249310 |
| Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia... |
ORPHA:899 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Inab... |
ORPHA:2590 |
| Unilateral Ocular Duplication |
|
Abnormal eyebrow morphology, Median cleft lip, Abnormal pupil morphology, Cleft palate, Microcorn... |
ORPHA:3374 |
| Orofaciodigital Syndrome Xix |
|
Epicanthus, Cleft soft palate, Accessory oral frenulum, Carious teeth, Wide nasal bridge, Narrow ... |
OMIM:620107 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid |
ORPHA:209956 |
| Cerebrooculonasal Syndrome |
|
U-Shaped upper lip vermilion, Epicanthus, Anteverted nares, Prominent nasal bridge, Proboscis, Sp... |
OMIM:605627 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology, Ptosis |
ORPHA:93262 |
| Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... |
OMIM:300755 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Flexion contracture, Leukopenia, Conjunctivitis, Hernia, Atrial septal defe... |
ORPHA:505248 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Dermotrichic Syndrome |
|
Blepharophimosis, Aganglionic megacolon, Short nose, Depressed nasal bridge |
ORPHA:99688 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Lethargy |
ORPHA:289916 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hydrocephalus, Coloboma, Microphthalmia, Retinal degeneration |
OMIM:615249 |
| Mend Syndrome |
|
High palate, Abnormal nasal bridge morphology, Abnormal social behavior, Hyperactivity, Broad hal... |
ORPHA:401973 |
| Cerebrofaciothoracic Dysplasia |
|
Epicanthus, Wide nose, Cleft upper lip, Hypertelorism, Synophrys, Cleft palate, Broad philtrum, W... |
ORPHA:1394 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Tachypnea, Depressed nasal ridge, Atrial septal defect, Thick nasal alae, ... |
ORPHA:79345 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Hypoglycemia, Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Parox... |
ORPHA:391428 |
| 2Q31.1 Microdeletion Syndrome |
|
Abnormal tibia morphology, Synophrys, Short palm, Clinodactyly of the 5th finger, Atrial septal d... |
ORPHA:251014 |
| Short Syndrome |
|
Telecanthus, Rieger anomaly, Small for gestational age, Inguinal hernia, Lipodystrophy, Underdeve... |
OMIM:269880 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A... |
OMIM:616100 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Hepatomegaly, Atrial septal defect, Ventricular septal defect... |
ORPHA:488618 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Hydrocephalus, Micropenis, H... |
OMIM:309801 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Depressed nasal bridge, Long nose, Downturned ... |
OMIM:618590 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary rete... |
ORPHA:2795 |
| Mulibrey Nanism |
|
Hepatomegaly, Wide nose, Depressed nasal bridge, Cardiomegaly, Wide nasal bridge, Myocardial fibr... |
OMIM:253250 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Narrow nasal ... |
OMIM:608612 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum |
OMIM:619142 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Short stature, Renal hypopl... |
ORPHA:568 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Iris coloboma |
OMIM:610092 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... |
OMIM:308230 |
| Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Shallow orbits, Clinodactyly of the 5th finger, Depressed nasal ... |
ORPHA:1272 |
| Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Highly arched eyebrow, Micrognathi... |
ORPHA:3253 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Dysmenorrhea, Increased intraabdominal fat, Hepatic steatosis, Hepatomegaly, Decreased adiponecti... |
ORPHA:280365 |
| Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... |
OMIM:613406 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Metaphyseal widening, Choreoathetosis, High palate, Hyperactivity, Spina bif... |
OMIM:234100 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Dental malocclusion, Spherophakia, Anterior synechiae of ... |
OMIM:601552 |
| Hydatidiform Mole |
|
Hyperthyroidism, Miscarriage, Menometrorrhagia, Enlarged uterus, Anemia |
ORPHA:99927 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Epicanthus, Corneal opacity, Micrognathia, Abnormality of the dentition, O... |
ORPHA:96125 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... |
OMIM:170390 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Colob... |
ORPHA:329224 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand monodacty... |
OMIM:609945 |
| Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Hype... |
ORPHA:79237 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Dyspnea, Right atrial enlargement, Peripheral edema, Abnormality of t... |
ORPHA:1677 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent aspiration pneumonia, Neonatal respiratory distress, Psoriasiform dermatitis, Ataxia, A... |
ORPHA:221139 |
| Orofaciodigital Syndrome Ix |
|
Telecanthus, Toe syndactyly, Broad nasal tip, Bifid nasal tip, Cleft palate, Hand polydactyly, Hi... |
OMIM:258865 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate |
OMIM:300676 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Periorbital edema, Rectal prolapse, Dys... |
ORPHA:904 |
| Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Bulbous nose, Narrow palpebral fissure, Limb hypertonia, Absent distal ph... |
OMIM:614219 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Rheumatoid factor positive, Tachypnea, Leukopenia, Increased c... |
OMIM:615934 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Polyhydramnios, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal death, Pter... |
OMIM:256520 |
| Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Sparse eyelashes, Ventricular septal defect, Anteverted nares, Decreased fertility, G... |
OMIM:234050 |
| Joubert Syndrome 16 |
|
Encephalocele, Coloboma, Retinal dystrophy |
OMIM:614465 |
| Menke-Hennekam Syndrome 1 |
|
Deep philtrum, Depressed nasal ridge, Deeply set eye, High palate, Short philtrum, Anteverted nar... |
OMIM:618332 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Synophrys, Joint contracture of the 5th finger, Clinodactyly of the 5th finger, Prominent fingert... |
ORPHA:363611 |
| Microphthalmia, Syndromic 5 |
|
Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism, Coloboma, Microphthalmia... |
OMIM:610125 |
| Raine Syndrome |
|
Death in infancy, Natal tooth, Depressed nasal bridge, Choanal atresia, Highly arched eyebrow, Pr... |
OMIM:259775 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... |
OMIM:262190 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... |
ORPHA:227990 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... |
ORPHA:35878 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Cachexia, Exertional dyspnea |
ORPHA:42 |
| Frontorhiny |
|
Epicanthus, Cataract, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Bifid... |
ORPHA:391474 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin resista... |
ORPHA:79085 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Apnea, Polyhydramnios, Abnormal lung lobation, Depressed nasal ridge, Atrial septal defect, Stoma... |
ORPHA:1052 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal cranial nerve morphology |
ORPHA:228399 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Umbilical hernia, Cryptorchidism, Abnormal heart morphology |
ORPHA:352490 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Hypertelorism, Upslanted palpebral fissure, Narrow palpebral fissure, Deeply set eye, Short nose |
OMIM:618087 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Epicanthus, Palpebral edema, Small for gestational age, Hypertelorism, Cryptorc... |
OMIM:614866 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Wide nose, Death in infancy, Overlapping fingers, Skeletal muscle atrophy, Protrudi... |
OMIM:608779 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Asplenia, Clinodactyly,... |
OMIM:249000 |
| Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Abnormality of dental color, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1006 |
| Orofaciodigital Syndrome Type 4 |
|
Micromelia, High, narrow palate, Depressed nasal ridge, Aplasia/Hypoplasia of the tibia, Bifid uv... |
ORPHA:2753 |
| Geleophysic Dysplasia 3 |
|
Hepatomegaly, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Pneumonia, Dyspnea, Bulbo... |
OMIM:617809 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:179613 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Rocker bottom foot, Ventricular septal defect, Recurrent upper respira... |
ORPHA:3078 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Premature ovarian insufficiency, Autoimmunity, Celiac disease, Pituitary aden... |
ORPHA:199299 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Impaired glucose tolerance, Prominent nose, Simplified gyral pattern, Glucose intolerance, Joint ... |
OMIM:614407 |
| Cranioectodermal Dysplasia 1 |
|
Epicanthus, Telecanthus, Anteverted nares, High, narrow palate, Wide nasal bridge, Hypotelorism, ... |
OMIM:218330 |
| Harel-Yoon Syndrome |
|
Upslanted palpebral fissure, Deeply set eye, Short nose |
OMIM:617183 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Proteinuria, Ventricular septal defect, Congenital diaphragmatic hernia, Depressed n... |
OMIM:222448 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Apnea, Cardiorespiratory arrest, Nasal congestion, Blepharospasm, Lethargy, Ptosis |
OMIM:608643 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Typhoid |
|
Lethargy, Epistaxis, Cough |
ORPHA:99745 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... |
ORPHA:227982 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Metrorrhagia, Anorexia, Precocious puberty, Jaundice, Ovar... |
ORPHA:370348 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... |
ORPHA:51636 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ambiguous genitalia, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus... |
OMIM:618142 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
| Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Retinal dystrophy, Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Iris col... |
ORPHA:139471 |
| Muir-Torre Syndrome |
|
Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
| Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Bowing of the legs, Anti-dsDNA antibody po... |
ORPHA:1855 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Small for gestational age, Episodic tachypnea, Pneumonia, Overweight, Tachy... |
ORPHA:26793 |
| Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Epispadias, High, narrow palate, Coxa vara, Clitoral hypoplasia,... |
ORPHA:3107 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Cardiomegaly, Bulbous nose, Abnormal atrioventric... |
ORPHA:324410 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia... |
ORPHA:572 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Delayed... |
OMIM:149730 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Depressed nasal bridge, Hypertelorism, Cryptorchidism, Narrow mouth, Cl... |
OMIM:601353 |
| Trisomy 9P |
|
Dental crowding, Abnormal pupil morphology, Non-midline cleft lip, Impacted tooth, Downturned cor... |
ORPHA:236 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Pustule, Recurrent pneumonia, Increased circulating IgE level, Dehydration, Long ... |
OMIM:616069 |
| Trisomy 10P |
|
Decreased muscle mass, Simplified gyral pattern, High palate, Absent gallbladder, Anteverted nare... |
ORPHA:171929 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Short stature, Autoimmunity, Splenomegaly, Recurrent upper respi... |
OMIM:616005 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| 8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Retinal dystrophy, Hypogonadotropic hypogonadism, Cryptorchidism, Patent duc... |
ORPHA:251066 |
| Monosomy 9P |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Synophrys, High palate, Hernia, Hyp... |
ORPHA:261112 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Anteverted nares, Depressed nas... |
OMIM:200600 |
| Usher Syndrome Type 2 |
|
Abnormality of dental color, Cataract, Abnormal dental enamel morphology, Carious teeth, Microdon... |
ORPHA:231178 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Polyhydramnios, Synophrys, Flexion contracture, High palate, Generalized am... |
OMIM:620369 |
| Gracile Bone Dysplasia |
|
Death in infancy, Failure to thrive, Asplenia, Flared metaphysis, Aniridia, Microphthalmia, Hypop... |
OMIM:602361 |
| Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Cleft ala nasi, Anophthalmia, Abnormal lung lobation, Urethra... |
ORPHA:2052 |
| Robinow Syndrome |
|
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Atrial septal defect, Webbed pen... |
ORPHA:97360 |
| Pfeiffer Syndrome Type 1 |
|
Depressed nasal bridge, Hypertelorism, Proptosis, High palate, Short nose |
ORPHA:93258 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small for gestational age, Intestinal malrotation, Tachypnea, Esophageal varix, Respiratory insuf... |
OMIM:613658 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect, Hypospadias |
ORPHA:1296 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Hypertelorism,... |
OMIM:614207 |
| Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:2394 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmon... |
ORPHA:1120 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Chronic hepatitis due to cryptosporidium infection... |
OMIM:615207 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Autoimmunity, Crackles, Nonproductive cough, Atelectasis, Dyspnea, Wheezing, Asthma, Hypersensiti... |
ORPHA:2902 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Macular hypoplasia, Chorioretinal colo... |
OMIM:615219 |
| Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Bifid nasal tip, Upper eyelid coloboma, Nasolacrimal duct obstructio... |
ORPHA:2717 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Chronic oral candidiasis, Abnormal proportion of CD8-po... |
OMIM:212050 |
| Monosomy 18P |
|
Epicanthus, Brachydactyly, Lymphedema, Wide nasal bridge, Cleft palate, Microphthalmia, Ptosis |
ORPHA:1598 |
| 46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
| Monosomy 13Q34 |
|
Hepatic steatosis, Epicanthus, Metrorrhagia, Epistaxis, Prominent nasal bridge, Prominent nose, B... |
ORPHA:96168 |
| Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
| Schneckenbecken Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Dumbbell-shaped long bone, Advanced ossification of ca... |
OMIM:269250 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Depressed nasal bridge, Ankle flexion contracture, Long eyelashes, Recurrent lower respiratory tr... |
OMIM:617802 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Hypertelor... |
ORPHA:93259 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Short greater sciatic notc... |
OMIM:187601 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Cataract, Sparse eyelashes, Sparse eyebrow, Hypoplasia of the maxilla, Wide nasal bri... |
ORPHA:306542 |
| Opsismodysplasia |
|
Hepatomegaly, Recurrent respiratory infections, Depressed nasal bridge, Tapered finger, Splenomeg... |
ORPHA:2746 |
| Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimulation... |
OMIM:609053 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Autoimmunity, Precocious puberty, Pituitar... |
ORPHA:91354 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
| Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Prominent nose, Hypoplasia of the iris, High palate, Pachygyria, Ata... |
OMIM:251300 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Wide nose, Left atrial enlargement, Cardiomegaly, Prominent nose, Cardio... |
OMIM:300280 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Ventricular septal defect, Wide nasal bridge, Cleft palate, Obesity, ... |
ORPHA:251038 |
| Cardiofaciocutaneous Syndrome 1 |
|
Deep philtrum, High palate, Absent eyebrow, Depressed nasal bridge, Anteverted nares, Hypertelori... |
OMIM:115150 |
| Glanzmann Thrombasthenia |
|
Spontaneous, recurrent epistaxis, Menometrorrhagia, Impaired thrombin-induced platelet aggregatio... |
ORPHA:849 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Anophthalmia, Abnormality of the spleen, Abnormal finger morphol... |
ORPHA:2538 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinem... |
OMIM:308240 |
| Meacham Syndrome |
|
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Septate vagina,... |
OMIM:608978 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Unilateral microphthalmos, Anemia, Failure to thrive, T... |
OMIM:615085 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Laterally curved eyebrow, Atrial... |
OMIM:300166 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrocalcinosis, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx ... |
OMIM:268310 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Secundum atrial septal defe... |
OMIM:609069 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Failure to thrive in infancy, Abnor... |
ORPHA:79124 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... |
OMIM:608184 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Synophrys, Aplasia of the distal phalanx of the 5th finger, High palate, Clinodactyly of the 5th ... |
OMIM:608670 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Cyanosis, Anteverted nares, Occipital encephalocele, Postax... |
OMIM:619879 |
| Charge Syndrome |
|
Anophthalmia, External genital hypoplasia, Decreased response to growth hormone stimulation test,... |
OMIM:214800 |
| Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Thick eyebrow, Decreased response to growth ho... |
ORPHA:319182 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Right ventricular dilatati... |
OMIM:619705 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Lacrimal duct stenosis, Carious teeth, Periorbital dermoid cyst, Dental malocc... |
OMIM:615560 |
| Peho Syndrome |
|
Recurrent respiratory infections, Epicanthus, Palpebral edema, Anteverted nares, Tapered finger, ... |
ORPHA:2836 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Hypoplastic left heart, Ambiguous... |
ORPHA:2772 |
| Thoracomelic Dysplasia |
|
Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Abnormal metaphy... |
ORPHA:1803 |
| Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... |
OMIM:603903 |
| Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... |
ORPHA:31204 |
| Van Maldergem Syndrome 1 |
|
Irregular dentition, Epicanthus, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi... |
OMIM:601390 |
| Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Epicanthus, Cataract, Abnormal dental morph... |
ORPHA:192 |
| Distal Deletion 12Q |
|
Ectopic kidney, High, narrow palate, Biliary atresia, Aplasia/Hypoplasia of the middle phalanx of... |
ORPHA:96149 |
| Baraitser-Winter Syndrome 2 |
|
Telecanthus, Highly arched eyebrow, Long palpebral fissure, Microphthalmia, Ptosis |
OMIM:614583 |
| Suleiman-El-Hattab Syndrome |
|
Optic disc pallor, Ventricular septal defect, Cryptorchidism, Atrial septal defect, Patent forame... |
OMIM:618950 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Recurrent upper res... |
OMIM:252920 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Rhizomelia, Edema, Polyhydramnios, Sparse eyebrow, Postaxial polydactyly, Conca... |
OMIM:302960 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepa... |
ORPHA:79259 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
| Late-Onset Familial Hypoaldosteronism |
|
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... |
ORPHA:556037 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Absent lacrimal punctum, Epicanthus, Absent eyelashes, Carious teeth, Lacrimal duct aplasia, Wide... |
OMIM:620193 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
| Tenorio Syndrome |
|
Wide nose, Anteverted nares, Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Failure to thrive, Apnea |
OMIM:210200 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, High palate, Megalocornea, Bifid uvu... |
OMIM:211380 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Anteverted nares, Broad nasal tip, Carious teeth, Hypertelorism, Emphysema, Prominent nasolabial ... |
ORPHA:357074 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Hypoketotic... |
OMIM:600649 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ... |
OMIM:610163 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Polyhydramnios, Cardiomegaly, High, narrow palate, A... |
ORPHA:3472 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal widening, T lymphocytopenia, Neutropenia, Juvenile rheumatoid arthritis, Hypothyroidi... |
OMIM:607944 |
| Chromosome 22Q13 Duplication Syndrome |
|
Anteverted nares, Impulsivity, Narrow nasal ridge, Upslanted palpebral fissure, Attention deficit... |
OMIM:615538 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior chamber, Hypodontia... |
OMIM:602482 |
| Lymphedema-Distichiasis Syndrome |
|
Ptosis, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Ventricular septal defect... |
OMIM:153400 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear antibody ... |
ORPHA:536 |
| Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Epicanthus, Proteinuria, Arachnodactyly, Edema, Hiatus hernia, Pachy... |
OMIM:617729 |
| Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T c... |
ORPHA:83471 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Aspiration pneumonia, Neona... |
OMIM:619167 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Median cleft lip, Orofacial cleft, Hypotelorism, Aplasia of the nose, Cyclopia |
ORPHA:3186 |
| Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Micropenis, Abn... |
OMIM:617516 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
| Joubert Syndrome 3 |
|
Atrial septal defect, Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia, Polyhydramnios |
OMIM:619971 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, De... |
OMIM:309520 |
| Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
| Hermansky-Pudlak Syndrome 10 |
|
Apnea, Smooth philtrum, Hypotelorism |
OMIM:617050 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy, Failure to thrive |
OMIM:238970 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... |
ORPHA:1106 |
| Dengue Fever |
|
Lethargy, Epistaxis, Cardiorespiratory arrest, Gingival bleeding |
ORPHA:99828 |
| Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
| Lathosterolosis |
|
Hepatomegaly, Epicanthus, Toe syndactyly, Anteverted nares, Intrahepatic cholestasis, Bulbous nos... |
ORPHA:46059 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent eyebrow, Everted upper lip vermilion, Absent nipple, Depressed nasal... |
OMIM:305100 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
| Graft Versus Host Disease |
|
Skeletal muscle atrophy, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory ab... |
ORPHA:39812 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Respiratory insufficiency, Respiratory failure, Lethargy, Failure to t... |
OMIM:609015 |
| Manitoba Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Nasolacrimal duct obstruction, Ant... |
OMIM:248450 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Optic atrop... |
OMIM:614576 |
| C Syndrome |
|
Micromelia, Congenital diaphragmatic hernia, Polyhydramnios, High palate, Clinodactyly of the 5th... |
ORPHA:1308 |
| Heart And Brain Malformation Syndrome |
|
Depressed nasal bridge, Anteverted nares, Polyhydramnios, Camptodactyly of finger, Ventricular se... |
OMIM:616920 |
| Dend Syndrome |
|
Anteverted nares, Bilateral ptosis, Autoimmune antibody positivity, Downturned corners of mouth, ... |
ORPHA:79134 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia |
OMIM:600776 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Nasal congestion, Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Abnormal morphology of female internal ... |
ORPHA:1926 |
| Coffin-Siris Syndrome 1 |
|
Conical tooth, Hypotelorism, Short philtrum, High palate, Microdontia, Depressed nasal bridge, Hy... |
OMIM:135900 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Depressed nasal bridge, Short stature, Sparse eyebrow, Scarring alopecia of sca... |
ORPHA:35173 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, Knee flexion contra... |
ORPHA:3103 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... |
ORPHA:811 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Intrauterine growth retardation, Bicuspid aortic valve |
OMIM:617744 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Lymphedema, Metaphyseal widening, Flexion contracture, Abnormal fing... |
ORPHA:536471 |
| Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Keratitis, Hypoplasia of the maxilla, Conjunctivitis, Hig... |
OMIM:123500 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Telecanthus, Anteverted nares, Prominent nasal bridge, Hypertelorism, Open bite, Deep philtrum, U... |
ORPHA:1974 |
| Vacterl With Hydrocephalus |
|
Inguinal hernia, Anophthalmia, Renal agenesis, Femoral hernia, Spina bifida, Renal hypoplasia/apl... |
ORPHA:3412 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Hypospadias, Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Syn... |
OMIM:603457 |
| Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
| Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Lethargy |
OMIM:617105 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Impaired Ig class switch recombination, Increased circulating I... |
OMIM:605258 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Elevated circulating growth hormone concentration, Anorexia, Abnormal pu... |
ORPHA:97287 |
| Cockayne Syndrome B |
|
Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Death in childhood, Micrope... |
OMIM:133540 |
| Lesch-Nyhan Syndrome |
|
Short stature, Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Self-inj... |
OMIM:300322 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Upslanted palpebral fissure, Narrow mouth, Short nose... |
OMIM:613735 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Rectal absces... |
OMIM:601495 |
| Refsum Disease |
|
Skeletal muscle atrophy, Short metacarpal, Splenomegaly, Anosmia, Respiratory insufficiency, Card... |
ORPHA:773 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular a... |
OMIM:146255 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Sparse eyelashes, Eczema, Skin rash, Ectopic kidney, Sparse eye... |
ORPHA:634 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Ascites |
OMIM:614702 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogeusia, Hypogonadism, Lethargy, Failure to thrive, Decreased testicular size |
OMIM:201100 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Anteverted nares, Carious teeth, High palate, Narrow mouth, Short nose, Failure to thrive, Downsl... |
OMIM:219200 |
| Mohr Syndrome |
|
Telecanthus, Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:252100 |
| Early-Onset Familial Hypoaldosteronism |
|
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... |
ORPHA:556030 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Pulmonar... |
ORPHA:70588 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Sparse eyelashes, Micrognathia, Sp... |
OMIM:209885 |
| Say-Barber-Miller Syndrome |
|
Patellar hypoplasia, Abnormal T cell morphology, Knee flexion contracture, High palate, Decreased... |
ORPHA:3132 |
| Odontomicronychial Dysplasia |
|
Carious teeth, Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormalit... |
ORPHA:1811 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Pigmentary retinopathy, Atria... |
OMIM:612582 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Intestinal obstruction, Autoimmunity, Increased circulating IgG4... |
ORPHA:449400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Retinal detachment, Remnants of the hyaloid vascular system, Opt... |
OMIM:614643 |
| Pituitary Gigantism |
|
Premature pubarche, Elevated circulating growth hormone concentration, Hyperhidrosis, Increased c... |
ORPHA:99725 |
| Cataract 9, Multiple Types |
|
Microphthalmia, Iris coloboma |
OMIM:604219 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Lethargy, Apnea, Hyperventilation |
OMIM:229700 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Wide nose, Skin rash, Eosinophilia, Recurrent pneumonia, Incr... |
OMIM:147060 |
| Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Up... |
ORPHA:293939 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Depressed nasal bridge, Eczema, Microcytic anemia, Microphthalmia, Failure to thrive |
OMIM:612379 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
| Hennekam-Beemer Syndrome |
|
Wide nose, Pneumonia, Camptodactyly of finger, Mastocytosis, Long nose, Wide nasal bridge, Respir... |
ORPHA:2135 |
| Benign Schwannoma |
|
Intestinal polyposis, Nasal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morp... |
ORPHA:252164 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Limb muscle weakness, Abnormal proportion of CD4-po... |
ORPHA:217260 |
| Toriello-Carey Syndrome |
|
Telecanthus, Neonatal respiratory distress, Aganglionic megacolon, Short stature, Sparse eyebrow,... |
ORPHA:3338 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Wide nose, Intestinal polyposis, Hypogly... |
ORPHA:109 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Hypertelor... |
ORPHA:93260 |
| Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
| Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Epicanthus, Anteverted nares, Selective tooth agenesis, Underdeveloped nasal... |
OMIM:164200 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Anophthalmia, Congenital diaphragmatic hernia, Abnormal eyelid morphology, ... |
ORPHA:2556 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Ventricular septal defect |
OMIM:616816 |
| Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Choanal stenosis, T... |
OMIM:607323 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Anophthalmia, Malformed lacrimal duct, Cutaneous... |
OMIM:219000 |
| Woods Syndrome |
|
Optic atrophy, Ventricular septal defect |
OMIM:615236 |
| Renal Hypoplasia, Bilateral |
|
Neonatal respiratory distress, Small for gestational age, Cryptorchidism, Lethargy, Failure to th... |
ORPHA:97362 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Bicuspid aortic valve, High, narrow palate, Synophrys, Tics, High palate, Compulsi... |
OMIM:619475 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Impaired glucose tolerance, Edema, Pituitary adenoma, Obesity, Nephrolit... |
OMIM:219090 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Cleft hard palate, Calcaneo... |
ORPHA:2152 |
| Megalencephaly |
|
Atrial septal defect, Long penis, Macroorchidism |
ORPHA:2477 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Upslanted palpebral fissure, Hypertelorism, Cleft hard palate, Broad nasal tip |
ORPHA:166016 |
| Atelosteogenesis, Type Ii |
|
Sandal gap, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Abnormal pelvic gir... |
OMIM:256050 |
| Meckel Syndrome |
|
Ureteral duplication, Anophthalmia, Asplenia, Depressed nasal ridge, Urethral atresia, Accessory ... |
ORPHA:564 |
| Fanconi Anemia, Complementation Group B |
|
Death in infancy, Optic disc hypoplasia, Ventricular septal defect, Hypergonadotropic hypogonadis... |
OMIM:300514 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Lethargy, Failure to thrive |
OMIM:251000 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficiency anemia, U... |
ORPHA:79408 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Polyhydramnios, Hypoplasia of the thymus, Death in childhood, Death in infancy, Ps... |
OMIM:243150 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Coloboma, Ventricular septal defect, Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
| Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
| Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst,... |
OMIM:246200 |
| Woolly Hair |
|
Abnormal pupil morphology, Cataract, Sparse lateral eyebrow |
ORPHA:170 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Unilateral radial aplasia, Synophrys, Aplasia of the 1st metacarpal, Gait a... |
ORPHA:476126 |
| Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
| Abcd Syndrome |
|
White eyelashes, White eyebrow, Large for gestational age, Albinism, Neonatal death |
OMIM:600501 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy, Respiratory insufficiency |
ORPHA:27 |
| Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve ... |
ORPHA:371428 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Depressed nasal bridge, Anteverted nares, Splenomegaly, Abnormality o... |
ORPHA:85212 |
| Penile Agenesis |
|
Maternal diabetes, Fetal pyelectasis, Bilateral renal hypoplasia, Absent penis, Atrial septal def... |
ORPHA:49 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Absent lower eyelashes, Furrowed tongue, Upslanted palpebra... |
ORPHA:140936 |
| Aredyld Syndrome |
|
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Abnormal nasal morphology, Splenome... |
ORPHA:1133 |
| Van Maldergem Syndrome 2 |
|
Irregular dentition, Epicanthus, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi... |
OMIM:615546 |
| Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive |
ORPHA:35706 |
| Opsismodysplasia |
|
Short palm, Recurrent respiratory infections, Short metacarpal, Depressed nasal bridge, Anteverte... |
OMIM:258480 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, High, narrow palate, Abnormal tibia morphology, Hydrops fetalis,... |
ORPHA:2879 |
| Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Absent lower eyelashes, Keratoconjunctivitis sicca... |
OMIM:620370 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus |
OMIM:615502 |
| Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
| Oculoauricular Syndrome |
|
Cataract, Short mandibular rami, Sclerocornea, Chorioretinal atrophy, Nasolacrimal duct obstructi... |
OMIM:612109 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Short stature, Bilateral cryp... |
OMIM:300472 |
| Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Lymphedema, Biliary tract neoplasm, Dyspnea, Bronchi... |
ORPHA:662 |
| Cyclic Vomiting Syndrome |
|
Lethargy |
OMIM:500007 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... |
ORPHA:3411 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, High palate |
ORPHA:85279 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Myhre Syndrome |
|
Atrial septal defect, Ataxia, Short stature, Pericardial effusion, Cryptorchidism, Short toe, Gen... |
OMIM:139210 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat... |
OMIM:180700 |
| Tako-Tsubo Cardiomyopathy |
|
Dyspnea, Dilatation of the ventricular cavity, Obesity, Coronary artery stenosis, Pulmonary edema |
ORPHA:66529 |
| Isolated Arrhinia |
|
Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas... |
ORPHA:1134 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
| Marshall Syndrome |
|
Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Thick lower lip vermilion, P... |
OMIM:154780 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Recurrent respiratory infections, Villous atrophy, Decreased circulati... |
OMIM:256500 |
| Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Epicanthus, Hypoplastic nasal bridge, Ventricular septal defect... |
OMIM:609942 |
| Interstitial Cystitis |
|
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur... |
ORPHA:37202 |
| Prune Belly Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Decreased fertility, Abnorma... |
ORPHA:2970 |
| Immunodeficiency 58 |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Allergic rhinitis, Eczem... |
OMIM:618131 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Inguinal hernia, External genital hypoplasia, Cryptorchidism, ... |
ORPHA:2250 |
| Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Anteverted nares, Prominent nasal bridge, Hypertelorism, Cryptorchidism, Deep philtrum, Dental ma... |
OMIM:227330 |
| Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Proboscis, Submucous cleft hard palate, Absent nasal septal cartilage,... |
OMIM:157170 |
| Scrub Typhus |
|
Dyspnea, Lethargy, Restrictive ventilatory defect, Cough |
ORPHA:83317 |
| Specc1L-Related Hypertelorism Syndrome |
|
Ectopic kidney, Atrial septal defect, Clinodactyly of the 5th finger, Finger syndactyly, Highly a... |
ORPHA:1519 |
| Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Decreased response to growth hormone stim... |
ORPHA:273 |
| Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Prominent nasal bridge, Optic nerve hypoplasia, Intestinal mal... |
OMIM:243605 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Microphthalmia, Iris coloboma, Macular coloboma |
OMIM:615145 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilo... |
OMIM:615234 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Hypoplasia of the vagina, Bilobate gallbladder, Proximal placement of thumb... |
OMIM:261540 |
| Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Cleft soft palate, Esophageal atresia, Atrial septal defect, Microphthalmia, Do... |
OMIM:614526 |
| Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Optic nerve hypoplasia |
OMIM:615879 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Cryptorchidism, Patent ductus arte... |
ORPHA:500159 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Umbilical hernia, Pulmonic stenosis, Microphthalmia, Patent foramen ovale |
OMIM:618914 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Small for gestational age, Ataxia, Ventricular septal defect, Inab... |
ORPHA:79243 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Clinodactyly, Renal cyst, Neutropenia, Vesicoureteral reflux, Joint contrac... |
OMIM:618460 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Cardiomegaly |
ORPHA:88643 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Synophrys, Ureterocele, Short palm, Clinodactyly of the 5th finger, Hypospadias, D... |
OMIM:616734 |
| Cantu Syndrome |
|
Depressed nasal bridge, Anteverted nares, Bicuspid aortic valve, Cardiomegaly, Pericardial effusi... |
OMIM:239850 |
| Chromosome 17Q12 Deletion Syndrome |
|
Pica, Renal cyst, High palate, Short palm, Long toe, Multicystic kidney dysplasia, Depressed nasa... |
OMIM:614527 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Productive cough, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Nasal con... |
OMIM:615434 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Epicanthus, Aganglionic megacolon, Polyhydramnios, Tapered finger, Wide nasal bridge, Hydrocele t... |
OMIM:613603 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
| Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Abscess, Intestinal perforation, Myocarditis, Peritoniti... |
ORPHA:810 |
| Polyembryoma |
|
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Isosexual precoc... |
ORPHA:180229 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Meningoence... |
OMIM:236670 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Glycosuria, Pancreatic islet-cell hyperplasia, Agitation, Fasting... |
ORPHA:263455 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Cleft palate, Stomatitis, Lethargy, Failure to thrive, Glossitis |
ORPHA:79284 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy |
OMIM:618120 |
| Rhombencephalosynapsis |
|
Anteverted nares, Aganglionic megacolon, Hypertelorism, Esophageal atresia, Tracheoesophageal fis... |
ORPHA:59315 |
| Joubert Syndrome 2 |
|
Central apnea, Encephalocele, Renal insufficiency, Ataxia, Episodic tachypnea, Depressed nasal br... |
OMIM:608091 |
| Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Short palm, Synostosis of carpal bones, Encephalocele, Hyposp... |
ORPHA:90652 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy |
OMIM:233910 |
| Phace Association |
|
Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosus, Optic atrophy, Horne... |
OMIM:606519 |
| Cockayne Syndrome |
|
Skeletal muscle atrophy, Urinary incontinence, Progressive gait ataxia, Congenital contracture, H... |
ORPHA:191 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Bilateral cryptorchidism, Secundum atrial septal defect, Conjunctivitis, Ch... |
OMIM:616268 |
| Desmosterolosis |
|
Epicanthus, Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Cleft palate, Joint contractu... |
OMIM:602398 |
| Atelis Syndrome 2 |
|
Epicanthus, Prominent nose, Dyspnea, Bulbous nose, Thrombocytopenia, Supravalvar pulmonary stenos... |
OMIM:620185 |
| Hallermann-Streiff Syndrome |
|
Telecanthus, Sparse eyelashes, Choanal atresia, Tracheomalacia, Underdeveloped nasal alae, Sparse... |
ORPHA:2108 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
| Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Cataract, Hypoplasia of the maxilla, Submucous ... |
ORPHA:2588 |
| Biotinidase Deficiency |
|
Lethargy, Tachypnea, Conjunctivitis, Apnea |
OMIM:253260 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lym... |
OMIM:256550 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Pneumonia, Splenomegaly, Hypoplasia of the iris, Myopathy, Chroni... |
ORPHA:169090 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Neoplasm of the colon, Proteinuria, Dysuria, Skin rash, Abn... |
ORPHA:556 |
| Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Leukocytosis, Pancreatic hyperplasia, Jaundice, Thrombocytopenia |
ORPHA:99829 |
| Fanconi Anemia, Complementation Group L |
|
Anal atresia, Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, Renal h... |
OMIM:614083 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Atelosteogenesis, Type I |
|
Polyhydramnios, Short metatarsal, Tibial bowing, Neonatal death, Encephalocele, Short metacarpal,... |
OMIM:108720 |
| Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Optic disc hypoplasia, Edema, Miscarriage, Thrombocytopenia, ... |
ORPHA:448237 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Failure to thrive |
OMIM:611590 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Telecanthus, Ulnar deviation of the hand, Ventricular septal defect, Rocker bottom fo... |
OMIM:272950 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Epicanthus, Wide nose, Abnormal nasolacrimal system morphology, Anteverted nares, Anophthalmia, A... |
ORPHA:2526 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Maternal diabetes, Micropenis, Short stature, Cryptorchidism, Humeroradi... |
OMIM:134780 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Ankyloblepharon, Cleft pa... |
OMIM:119500 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, ... |
OMIM:274000 |
| Tyshchenko Syndrome |
|
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Intrauterine ... |
OMIM:615102 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Glossoptosis, High palate, Aspi... |
ORPHA:444077 |
| Cholera |
|
Miscarriage, Tachypnea, Deeply set eye, Aspiration pneumonia, Lethargy, Hyperventilation |
ORPHA:173 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
OMIM:611038 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Transposition of the great arteries, Gonadal dysgenesis, ... |
OMIM:231060 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Patent ductus arteriosus, Holoprosencephaly, Atrial septal defect |
ORPHA:93274 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Glucose intoleranc... |
OMIM:194050 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... |
OMIM:242670 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Hypogonadot... |
OMIM:206900 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Cryptorc... |
ORPHA:452 |
| Kabuki Syndrome 1 |
|
Premature thelarche, High palate, Prominent fingertip pads, Atrial septal defect, Micropenis, Rec... |
OMIM:147920 |
| Woolly Hair Nevus |
|
Widely-spaced incisors, Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Respiratory insufficiency, Respiratory failure,... |
ORPHA:746 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Micropenis, Ventricular septal defect, Abnormally large globe |
OMIM:618504 |
| Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent du... |
OMIM:601808 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut... |
ORPHA:857 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Frontal encephalocele |
ORPHA:521308 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Hypoglycemia, Ataxia, Supernumerary nipple, Aggressive behavior,... |
ORPHA:457279 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
| Aplasia Of Lacrimal And Salivary Glands |
|
Lacrimal gland hypoplasia, Absent lacrimal punctum, Carious teeth, Lacrimal gland aplasia |
OMIM:180920 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia |
OMIM:261750 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Bronchitis, Enuresis nocturna, Otitis media, Decreased circulating I... |
ORPHA:420741 |
| Diamond-Blackfan Anemia |
|
Epicanthus, Depressed nasal bridge, Cleft soft palate, Small for gestational age, Hypertelorism, ... |
ORPHA:124 |
| Steinfeld Syndrome |
|
Abnormal heart morphology, Retinal coloboma, Holoprosencephaly, Microphthalmia, Iris coloboma |
OMIM:184705 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Apnea, Respiratory insufficiency, Upslanted palpebral fissure, Respiratory fail... |
OMIM:252010 |
| Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Blue irides, Wide mouth, Mac... |
OMIM:105830 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, Cholestasis, G... |
OMIM:615630 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
| Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
| Carpenter Syndrome 1 |
|
Ventricular septal defect, External genital hypoplasia, Precocious puberty, Cryptorchidism, Paten... |
OMIM:201000 |
| Cousin Syndrome |
|
Ambiguous genitalia, female, Ambiguous genitalia, male, Clinodactyly of the 5th finger, Wrist fle... |
OMIM:260660 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Edema, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Glucose intolerance, Ab... |
ORPHA:254892 |
| Omodysplasia 1 |
|
Atrial septal defect, Short tibia, Rhizomelia, Increased fibular diameter, Depressed nasal bridge... |
OMIM:258315 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Depressed nasal bridge, Long fingers, Cleft palate, Upslanted palpebral fissure, High... |
OMIM:156610 |
| Nance-Horan Syndrome |
|
Retinal detachment, Microphthalmia |
ORPHA:627 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Optic atrophy, Atrial septal... |
ORPHA:457193 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Decreased serum insulin-like growth factor 1, Short stature, Eczema, Celiac disease, Postnatal gr... |
OMIM:618985 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Telecanthus, Unilateral cleft palate, Highly arched eyebrow, Abnormality o... |
ORPHA:1299 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... |
ORPHA:763 |
| Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... |
ORPHA:1798 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Smooth philtrum, Hypoplasia of the maxilla, Upslanted palpebral fissure, Thin vermilion border, H... |
ORPHA:481152 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Lower limb muscle w... |
OMIM:606721 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:2089 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Abnormal size of the palpebral fissures, Corneal dystrophy, Hypoplasia of ... |
ORPHA:1101 |
| Renpenning Syndrome 1 |
|
High palate, Death in childhood, Atrial septal defect, Clinodactyly of the 5th finger, Hypospadia... |
OMIM:309500 |
| Pseudo-Torch Syndrome 2 |
|
Lethargy, Pleural effusion, Acute respiratory distress syndrome, Respiratory insufficiency |
OMIM:617397 |
| Gapo Syndrome |
|
Epicanthus, Depressed nasal bridge, Sparse eyelashes, Anteverted nares, Hypertelorism, Sparse eye... |
OMIM:230740 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... |
ORPHA:79086 |
| Stuve-Wiedemann Syndrome 1 |
|
Apnea, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth tongue, Short tibia, Short... |
OMIM:601559 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Brain abscess, Severe short stature, Rhizomelia, Urinary inc... |
OMIM:616482 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Intrauterine growth retardation, Retinal dystrophy, Ventricular sep... |
OMIM:616651 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ... |
OMIM:617388 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Epicanthus, Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Hypertelo... |
OMIM:617157 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Anemia, Cardiomegaly |
OMIM:618838 |
| Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
| Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
| Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Ga... |
ORPHA:95455 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Cleft hard palate, Calcaneo... |
ORPHA:261537 |
| Proteus-Like Syndrome |
|
Mandibular prognathia, Cataract, Open bite, Abnormal pupil morphology, Downslanted palpebral fiss... |
ORPHA:2969 |
| Lymphatic Malformation 13 |
|
Patent ductus arteriosus, Retinopathy of prematurity, Hydrocele testis, Neonatal death, Atrial se... |
OMIM:620244 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Ataxia, Anteverted nares, Large for gesta... |
OMIM:615398 |
| Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Anteverted nares, Dumbbell-shaped long bone, Rhizomelia, Small hand, Hydr... |
OMIM:228520 |
| Coffin-Lowry Syndrome |
|
Rectal prolapse, Thick nasal septum, High palate, Widely spaced teeth, Thick nasal alae, Broad co... |
OMIM:303600 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive |
OMIM:237300 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
| Crimean-Congo Hemorrhagic Fever |
|
Anorexia, Hyperhidrosis, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystit... |
ORPHA:99827 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Polyhydramnios, Flexion contracture, Knee flexion contracture, High palate, Aspiration pneumonia,... |
ORPHA:2020 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly, Hyperactivity, Ataxia, Anteverted nares, Unsteady gait, Wide nasal bridge, Attention ... |
ORPHA:1942 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Micrognathia, Hypoplasia of the... |
OMIM:300534 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Death in chil... |
OMIM:612938 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| 17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Diabetes mellitus, Pancreatic aplasia, Shawl scrotum |
ORPHA:261265 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidism, Elevated circul... |
OMIM:618183 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Microdonti... |
ORPHA:1307 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
High palate, Atrial septal defect, Arachnodactyly, Scarring, Hiatus hernia, Cryptorchidism, Nephr... |
OMIM:601776 |
| Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Cryptorchidism |
ORPHA:466926 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Anhidrosis, Recurrent urinary tract infections, Ataxia, Flexion contracture, Dysmetria, Gait atax... |
ORPHA:99027 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Epicanthus, Synophrys, Hypotelorism, High palate, Abnormal nasal bridge morphology, Downslanted p... |
ORPHA:536545 |
| Transaldolase Deficiency |
|
Atrial septal defect, Abnormality of the clitoris, Biventricular hypertrophy |
ORPHA:101028 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Growth delay, Intrauterine growth retardation, Conge... |
ORPHA:93325 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Corneal pterygium, Symblepharon, Amelogenesis imperfecta |
OMIM:245660 |
| Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Abnormal lung lobation, Accessory spleen, Hypospadias, Bifid uterus, Midline defe... |
OMIM:236680 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Hypertelorism, Thick vermilion bo... |
OMIM:616723 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Epicanthus, Wide nasal bridge |
OMIM:614886 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Decreased muscle mass, Anteverted nares, Postnatal growth retardation, Metaphyseal ... |
ORPHA:73230 |
| Sponastrime Dysplasia |
|
Aplasia of the nasal bone, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epiphyses ... |
ORPHA:93357 |
| Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
| Fraser Syndrome 2 |
|
Wide nose, Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasa... |
OMIM:617666 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Dumbbell-shaped long bone, Metaphyseal widening, Femoral bowin... |
ORPHA:440354 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... |
OMIM:210720 |
| Duane Retraction Syndrome |
|
Central heterochromia, Blepharophimosis, Micrognathia, Abnormal pupil morphology, Wide nasal brid... |
ORPHA:233 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Apnea, Bicuspid aortic valve, Aspiration pneumonia, Vesicoureteral reflux, Atrial septal defect, ... |
ORPHA:438213 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Intrauterine growth retardation, Short thumb |
OMIM:609054 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Anorexia, Bronchitis, T lymphocytopenia, ... |
OMIM:619381 |
| Emanuel Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arter... |
OMIM:609029 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Decreased cir... |
ORPHA:331206 |
| Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
| Immunodeficiency 22 |
|
Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Recurrent upper respiratory tract inf... |
OMIM:615758 |
| Necrotizing Enterocolitis |
|
Small for gestational age, Lethargy, Apnea |
ORPHA:391673 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Abnormally large globe |
OMIM:603387 |
| Isolated Complex I Deficiency |
|
Lethargy, Failure to thrive, Respiratory insufficiency, Ptosis |
ORPHA:2609 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Small scrotum, Tibial bowing, Choanal stenosis, Shallow orbits, ... |
OMIM:269150 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hydrocele testis, Atrial s... |
OMIM:601927 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Autoimmune antibody positivity, Macroglossia, Lethargy, Thyroid hypoplasia, Goiter |
ORPHA:90673 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventri... |
ORPHA:508498 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
| Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, T... |
ORPHA:238468 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
OMIM:248370 |
| Lowe Oculocerebrorenal Syndrome |
|
Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Abnormal... |
OMIM:309000 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Conjunctivitis, Lethargy, Hyperventilation |
ORPHA:79241 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Epicanthus, Cleft soft palate, Hypotelorism |
OMIM:614557 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, ... |
ORPHA:247691 |
| Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac septum morpholo... |
OMIM:615009 |
| Kagami-Ogata Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Long philtrum, Blepharophimosis, Retrognathia, Short pal... |
OMIM:608149 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Knee flexion contracture, Eyelid coloboma, High palate, Shallow orbits, Atrial se... |
OMIM:268300 |
| Pelvis-Shoulder Dysplasia |
|
Waddling gait, Syndactyly, Hydranencephaly, Short stature, Camptodactyly of finger, Fifth finger ... |
ORPHA:2839 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... |
OMIM:187600 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Abnormal cranial nerve morphology |
ORPHA:2345 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morphology, Club-shaped dist... |
OMIM:123000 |
| Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Menorrhagia |
ORPHA:168816 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop... |
OMIM:106210 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
| Meacham Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Cryp... |
ORPHA:3097 |
| Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Otitis media, Aspiration pneumonia, Lo... |
ORPHA:581 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Hydrops fe... |
ORPHA:268249 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Okamoto Syndrome |
|
Urinary incontinence, Abnormally large globe, Primum atrial septal defect, Exaggerated median ton... |
ORPHA:2729 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Death in infancy |
ORPHA:93946 |
| Burkitt Lymphoma |
|
Intestinal obstruction, Abnormality of the pancreas, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
| Thanatophoric Dysplasia |
|
Atrial septal defect, Intrauterine growth retardation, Hydrocephalus, Patent ductus arteriosus |
ORPHA:2655 |
| Coffin-Siris Syndrome 5 |
|
Atrial septal defect, Intrauterine growth retardation |
OMIM:616938 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
| Norrie Disease |
|
Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp... |
OMIM:310600 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Cleft hard palate, Calcaneo... |
ORPHA:261552 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Irregular menst... |
OMIM:615238 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Cor pulmonale, Chronic mucocutaneous candidiasis, F... |
OMIM:158310 |
| Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Abnormal humerus morphology, Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal lu... |
ORPHA:464329 |
| Jaberi-Elahi Syndrome |
|
Sparse eyelashes, Depressed nasal bridge, Sparse eyebrow, Triangular mouth, Short nose, Failure t... |
OMIM:617988 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla |
OMIM:608154 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, Small for gestational age |
ORPHA:289266 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1166 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Hypoplastic iris stroma, Macular hyp... |
ORPHA:2334 |
| Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Polyhydramnios, Depressed nasal ridge, Hepatic fibrosis, Bifid uvula, Hepatomega... |
OMIM:222470 |
| Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:615668 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Optic atrophy, Ventricular septal defect |
OMIM:220500 |
| Filippi Syndrome |
|
Intrauterine growth retardation, Optic atrophy, Ventricular septal defect, Cryptorchidism |
ORPHA:3255 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia, Cerebral edema |
OMIM:608033 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones |
OMIM:607634 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Apnea, Rocker bottom foot, ... |
ORPHA:521426 |
| Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Pleural effusion, Ascites, ... |
ORPHA:314473 |
| Pmm2-Cdg |
|
Respiratory distress, Multiple joint contractures, Prominent nose, Lymphedema, Elevated circulati... |
ORPHA:79318 |
| Holoprosencephaly 1 |
|
Proboscis, Hypotelorism, Aplasia of the nose, Cyclopia, Median cleft lip and palate |
OMIM:236100 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
| Methylcobalamin Deficiency Type Cble |
|
Lethargy, Failure to thrive |
ORPHA:2169 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Apnea, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossif... |
ORPHA:397715 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Apnea, Rocker bottom foot, Postaxial polydactyly, Edema, Abnormal cortical gyration, Long fingers... |
OMIM:617527 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus |
OMIM:218350 |
| Marcus-Gunn Syndrome |
|
Coloboma, Abnormal fifth cranial nerve morphology, Morning glory anomaly, Abnormal heart morphology |
ORPHA:91412 |
| Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum |
OMIM:103050 |
| Isovaleric Acidemia |
|
Lethargy |
OMIM:243500 |
| Listeriosis |
|
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... |
ORPHA:533 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Cough, Neutropenia,... |
ORPHA:73263 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
| Warsaw Breakage Syndrome |
|
Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Optic disc coloboma |
OMIM:613398 |
| Immunodeficiency 43 |
|
Recurrent respiratory infections, Hypoplasia of the ulna, Lung abscess, Radial bowing, Bronchiect... |
OMIM:241600 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Lymphedema, High, narrow palate, High palate, Atrial septal def... |
OMIM:163950 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Lethargy, Failure to thrive |
OMIM:251110 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Hyperhidrosis, Abnormal heart morphology, Aspiration pneumonia, Dyspha... |
ORPHA:79264 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Choreoathetosis, Renal tubular acidosis, Organic aciduria, Aspiration pneumonia, Nonprogressive c... |
ORPHA:431361 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Umbilical hernia |
ORPHA:1035 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy, Ptosis |
OMIM:607483 |
| Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia |
OMIM:108721 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2nd finger, A... |
OMIM:612394 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defe... |
ORPHA:3304 |
| Ayme-Gripp Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Abnormality of the dentition, ... |
OMIM:601088 |
| Citrullinemia Type Ii |
|
Lethargy, Delayed menarche, Decreased body mass index, Mania |
ORPHA:247585 |
| White Forelock With Malformations |
|
Atrial septal defect, Spina bifida occulta |
ORPHA:2475 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Narrow nasal bridge, Microphthalmia, Keratoconjunctivitis sicca, Recurrent respiratory infections |
ORPHA:1806 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Dysplastic tricuspid valve, Patent ductus arteriosus, Mitral valve prolapse, Right... |
OMIM:612863 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Underdeveloped nas... |
OMIM:616007 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Edema, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Chilblains, Pericar... |
OMIM:615846 |
| Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
| Porphyria Cutanea Tarda |
|
Viral hepatitis, Recurrent bacterial skin infections, Diabetes mellitus, Scarring, Hepatocellular... |
ORPHA:101330 |
| Monosomy 9Q22.3 |
|
Epicanthus, Hyperactivity, Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age, Cardiac ... |
ORPHA:77301 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Acne, Unilateral renal agenesis, Increased circulating dehydroepiand... |
OMIM:158330 |
| Zttk Syndrome |
|
Absent gallbladder, Epicanthus, Depressed nasal bridge, Abnormality of the dentition, Sparse eyeb... |
OMIM:617140 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Hypoplasia of the iris, Hernia, Finger syndactyly, Multicystic k... |
ORPHA:2092 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Coloboma, Patent foramen ovale, Transposition of the great arteries, Cryptorchidism |
OMIM:616789 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Hepatic steatosis, Cardiomegaly |
OMIM:255120 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Death in infancy, Apnea, Splenomegaly, Thrombocytopenia, Stridor, Cough, Bronchioli... |
OMIM:230900 |
| Emanuel Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arter... |
ORPHA:96170 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... |
OMIM:615710 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Functional abnormality of the bladder, T lymphocytopenia, Infectious encephaliti... |
ORPHA:391487 |
| Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Situs inversus totalis |
OMIM:619881 |
| Encephalitis Lethargica |
|
Lethargy, Autoimmunity, Hyperventilation |
ORPHA:83600 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Cleft... |
OMIM:611561 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
| Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,... |
ORPHA:2847 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Hiatus hernia, P... |
ORPHA:3342 |
| Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Umbilica... |
OMIM:617751 |
| Coach Syndrome 2 |
|
Coloboma, Hydrocephalus, Chorioretinal coloboma |
OMIM:619111 |
| Blomstrand Lethal Chondrodysplasia |
|
Telecanthus, Short metacarpal, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Protrudi... |
ORPHA:50945 |
| Acrocardiofacial Syndrome |
|
Death in infancy, Hypoplasia of penis, Mitral stenosis, Ventricular septal defect, Hypospadias, C... |
ORPHA:2008 |
| Meningococcal Meningitis |
|
Lethargy, Neonatal respiratory distress |
ORPHA:33475 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Degenerative vitreoretinopathy |
OMIM:607598 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Ventricular septal defect, Hypospadias, Bilateral cryptorchidism, Cryptorchidism, Atrial septal d... |
OMIM:300998 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Epicanthus, Wide nose, Failure to thrive, Short nose |
OMIM:615851 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Intrauterine growth retardation |
OMIM:614815 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Biliary atresia, A... |
ORPHA:2255 |
| Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Congestive heart failure, Tibial bowing, Abnormal pelvic g... |
OMIM:166210 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Glucose intolerance, Wide nasal bridge |
OMIM:309620 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Growth delay, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Oral leuk... |
OMIM:613987 |
| Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Hydroceph... |
ORPHA:1335 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Branchial cyst, Ectopic posterior pituitary, Micromelia, Bilateral renal hy... |
ORPHA:508488 |
| Lathosterolosis |
|
Bilobate gallbladder, Ambiguous genitalia, male, High palate, Anteverted nares, Increased mean pl... |
OMIM:607330 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Endometriosis, Muscular ventricular septal defect, ... |
ORPHA:363444 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Clitoral hypertrophy, Optic atrophy, Fused labia minora |
OMIM:608688 |
| Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Menometrorrhagia, Epistaxis, Anorexia, Malabsorption, Abnormal dental enamel... |
ORPHA:79430 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Patent foramen ovale, Iris coloboma |
ORPHA:88630 |
| Weill-Marchesani Syndrome 1 |
|
Cataract, Ectopia lentis, Hypoplasia of the maxilla, Microspherophakia, Narrow palate, Shallow an... |
OMIM:277600 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Edema, Intestinal perforation, Nephrot... |
ORPHA:544482 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
| Cockayne Syndrome A |
|
Prominent nose, Ivory epiphyses of the phalanges of the hand, Micropenis, Loss of facial adipose ... |
OMIM:216400 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect, Iris coloboma |
ORPHA:52055 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Polyhydramnios, Synophrys, Simplified gyral pattern, High palate, Clinodactyly of the 5th finger,... |
OMIM:617062 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... |
ORPHA:1686 |
| Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebrow, Cleft ... |
ORPHA:69085 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... |
ORPHA:3429 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Cryptorchidism, Intrauterine growth retardation, Rod-cone dystrophy, R... |
ORPHA:166035 |
| Pallister-Killian Syndrome |
|
Small scrotum, Edema of the dorsum of feet, Congenital diaphragmatic hernia, Polyhydramnios, Flex... |
OMIM:601803 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Decreased ... |
OMIM:619608 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
| Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
| Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Acrocyanosis, Hypothyroi... |
ORPHA:349 |
| Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Intrauterine growth re... |
OMIM:606003 |
| 1P21.3 Microdeletion Syndrome |
|
Broad nasal tip, Obesity, Upslanted palpebral fissure, Wide mouth, Deeply set eye, Short nose |
ORPHA:293948 |
| Cerebrofacioarticular Syndrome |
|
Irregular dentition, Epicanthus, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge, Narr... |
ORPHA:314679 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Recurr... |
OMIM:614162 |
| Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Abnormal response to glucagon stimulation test... |
ORPHA:79644 |
| Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Retinal coloboma, Atrial septal defect, Occipital meningocele, Microp... |
OMIM:616546 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Tachypnea, Weight loss, Apathy, Lethargy |
ORPHA:20 |
| Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM level, ... |
ORPHA:37748 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Cryptorchidism |
OMIM:617452 |
| Stickler Syndrome |
|
Epicanthus, Cataract, Telecanthus, Abnormal dental enamel morphology, Ectopia lentis, Micrognathi... |
ORPHA:828 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Right v... |
ORPHA:2041 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Depressed nasal bridge, Hypoglycemia, Ventricular septal defect, ... |
OMIM:619418 |
| Darier-White Disease |
|
Enlargement of parotid gland, Bipolar affective disorder |
OMIM:124200 |
| Sarcoidosis |
|
Abnormal nasal mucosa morphology, Abnormal lung morphology, Increased T cell count, Uveitis, Neph... |
ORPHA:797 |
| Cowden Syndrome 5 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth |
OMIM:615108 |
| Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Hypoplast... |
ORPHA:392 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Depressed nasal bridge, Septate vagina, Postaxial polydactyly, Hamartoma of t... |
OMIM:617925 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Corneal erosion, Nar... |
ORPHA:87 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Flexion contracture, Optic nerve hypoplasia, Decreased body weight |
OMIM:614833 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Genetic Transient Congenital Hypothyroidism |
|
Macroglossia, Thyroid hypoplasia, Lethargy, Goiter |
ORPHA:226316 |
| Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Intrauterine growth retardation, ... |
OMIM:620327 |
| Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
| African Trypanosomiasis |
|
Urinary incontinence, Choreoathetosis, Conjunctivitis, Iritis, Hepatomegaly, Abnormality of the e... |
ORPHA:3385 |
| Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... |
OMIM:609049 |
| 7Q31 Microdeletion Syndrome |
|
Telecanthus, Epicanthus, Hypoplasia of the maxilla, Wide mouth, Long philtrum, Short palpebral fi... |
ORPHA:251061 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Ventricular septal defect, Shawl scrotum |
ORPHA:2256 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Fasting hypoglycemi... |
OMIM:613027 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral st... |
OMIM:617660 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Dysphagia, Weight loss, Tip-toe gait, Gait disturbance, Aspiration pneumonia, ... |
ORPHA:216866 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Deformed humerus, Abnormalit... |
ORPHA:2975 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus... |
ORPHA:210122 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, Tachypnea, Hyperventilation |
OMIM:253270 |
| Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Semilobar holoprosencephaly |
OMIM:245552 |
| Glycerol Kinase Deficiency |
|
Small for gestational age, Hypertelorism, Cryptorchidism, Downturned corners of mouth, Lethargy |
OMIM:307030 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Precocious puberty, Cryptorchidism, Gonadal dysgenesis, Hypogonadism, ... |
ORPHA:3306 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... |
OMIM:615962 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Edema, Absence of re... |
OMIM:120330 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Pulmonary arterial hypertension, Stomatitis, Lethargy, ... |
ORPHA:79282 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
| Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, A... |
ORPHA:141099 |
| Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Epicanthus, Abnormality of the philtrum, Corneal dystrophy, Hypoplasia of ... |
ORPHA:2673 |
| Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma |
ORPHA:1553 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Lethargy, Failure to thrive |
OMIM:251100 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Cleft ala nasi, Anophthalmia, Congenital diaphragmatic hernia, Osteopathia ... |
OMIM:305600 |
| Immunodeficiency 47 |
|
Death in infancy, Failure to thrive, Hypotelorism |
OMIM:300972 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale, Retinal degeneration |
ORPHA:542306 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Long nose, Cryptorchidi... |
OMIM:618143 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Decreased nerve conduction ve... |
ORPHA:477817 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... |
ORPHA:169105 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy |
ORPHA:156 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Somatomammotropinoma |
|
Dysmenorrhea, Synophrys, Osteoarthritis, Hyperhidrosis, Pituitary prolactin cell adenoma, Hypogon... |
ORPHA:314769 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Tetrasomy 15Q26 |
|
Atrial septal defect, Intrauterine growth retardation, Hydrocephalus, Patent ductus arteriosus |
OMIM:614846 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Alagille Syndrome |
|
Keratoconus, Corneal dystrophy, Micrognathia, Long nose, Abnormal pupil morphology, Short philtru... |
ORPHA:52 |
| Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Intrauterine growth r... |
ORPHA:60041 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Corneal opacity, Absent eyelashes, Hypoplasia of the maxilla, Corneal... |
ORPHA:920 |
| Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Hypoplasia of the maxilla, Microspherophak... |
OMIM:608328 |
| Rodrigues Blindness |
|
Narrow nasal bridge, Microphthalmia, Nasal flaring |
OMIM:268320 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae |
OMIM:602196 |
| Infantile Liver Failure Syndrome 2 |
|
Lethargy |
OMIM:616483 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Cardiorespiratory arrest |
OMIM:212138 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Cryptorchidism |
ORPHA:505237 |
| Cirrhosis, Familial |
|
Lethargy, Esophageal varix, Pulmonary arterial hypertension |
OMIM:215600 |
| Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of th... |
ORPHA:171 |
| Hydranencephaly |
|
Hypotelorism, Lethargy, Atrophic pituitary gland |
ORPHA:2177 |
| X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:616867 |
| Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
| Momo Syndrome |
|
Epicanthus, Large for gestational age, Bilateral microphthalmos, Obesity, Femoral bowing, Eyelid ... |
ORPHA:2563 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Abnormally large globe |
ORPHA:96190 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Failure to thrive, Apnea |
ORPHA:395 |
| Bardet-Biedl Syndrome 20 |
|
Papilledema, Bilateral cryptorchidism, Atrial septal defect, Male hypogonadism, Micropenis, Rod-c... |
OMIM:619471 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo... |
OMIM:307800 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Hyperglycemia, Pancreatic... |
OMIM:600001 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Death in infancy, Pericardial effusion, Multiple muscular ventricular septa... |
OMIM:620070 |
| Cowden Syndrome 6 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth |
OMIM:615109 |
| Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Chorioretinal coloboma |
OMIM:620194 |
| Sifrim-Hitz-Weiss Syndrome |
|
Ambiguous genitalia, Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Pa... |
OMIM:617159 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Epicanthus, Sinusitis, Hypertelorism, Hypotelorism, Thick vermilion border, High palate, Lisch no... |
ORPHA:363700 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... |
ORPHA:322 |
| Tarp Syndrome |
|
Optic atrophy, Neonatal death, Atrial septal defect, Intrauterine growth retardation, Tetralogy o... |
OMIM:311900 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Flexion contracture, Hyperinsuline... |
OMIM:613327 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia, Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Coxa var... |
ORPHA:1452 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Choreoathetosis, Abnormality of the calf musculature, Increased circulating IgG lev... |
ORPHA:206594 |
| White-Sutton Syndrome |
|
Optic nerve hypoplasia, Patent ductus arteriosus, Atrial septal defect, Intrauterine growth retar... |
OMIM:616364 |
| Fg Syndrome Type 1 |
|
Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Atrial... |
ORPHA:93932 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Multiple joint contractu... |
ORPHA:70 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
| Fibrochondrogenesis 2 |
|
Short nose, Anteverted nares |
OMIM:614524 |
| Cadds |
|
Intrauterine growth retardation, Short nose, Cholangitis, Cholestasis |
ORPHA:369942 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Retinal nonattachment, Reti... |
OMIM:221900 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Atrial septal defect, Hypospadias, Pulmonary artery sling, Abnormality of the kidn... |
OMIM:235730 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Long philtrum,... |
OMIM:615877 |
| Alpha-Mannosidosis, Adult Form |
|
Macroglossia, Pancytopenia, Pneumonia, Hepatosplenomegaly |
ORPHA:309288 |
| Gm1 Gangliosidosis Type 1 |
|
Depressed nasal bridge, Broad nasal tip, Hydrops fetalis, Hepatosplenomegaly, Macroglossia, Flatt... |
ORPHA:79255 |
| Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Pancreatic fibrosis, Small for gestational age, Malabsorption, Death in childhoo... |
OMIM:557000 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Keutel Syndrome |
|
Optic atrophy, Ventricular septal defect |
ORPHA:85202 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap... |
ORPHA:2557 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Cyclopia, Alobar holopr... |
OMIM:301043 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Thin upper lip vermilion, Epicanthus, Abnormal location of the eyebrow, Almond-sha... |
ORPHA:522077 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
| Noonan Syndrome 5 |
|
Atrial septal defect, Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:611553 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
| Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Periodontitis, Malar flattening, Downslanted pa... |
OMIM:231070 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Lethargy, Pneumothorax |
OMIM:620306 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
ORPHA:1842 |
| Primrose Syndrome |
|
Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c... |
OMIM:259050 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
| Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect |
OMIM:618354 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ... |
ORPHA:1788 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypoglycemia, Ventricular septal defe... |
OMIM:614921 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Microp... |
ORPHA:2519 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv... |
OMIM:616564 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormality of the dentition, Proptosis, Narrow mouth, Short nose, Convex nasal ridge |
ORPHA:90154 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventric... |
OMIM:619909 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Microph... |
OMIM:610651 |
| Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
| Zellweger Syndrome |
|
Death in infancy, Abnormal chorioretinal morphology, Ventricular septal defect, Hypospadias, Cryp... |
ORPHA:912 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Respiratory distress, Edema, Renal cyst, Gastrointestinal inflammation, Dehyd... |
ORPHA:79404 |
| Aicardi Syndrome |
|
Anteverted nares, Proximal placement of thumb, Hiatus hernia, Precocious puberty, Spina bifida, P... |
OMIM:304050 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Exencephaly, Sh... |
ORPHA:2211 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Intrauterine growth retardation, Ventricular septal defect, Cryptorchidism |
OMIM:617635 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Aase-Smith Syndrome I |
|
Death in infancy, Hydrocephalus, Ventricular septal defect |
OMIM:147800 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect |
OMIM:301039 |
| Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:618870 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Broad nasal tip, Cryptorchidism, Spleno... |
ORPHA:1655 |
| Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Flexion contracture, Apneic episodes in infanc... |
ORPHA:35069 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Inguinal hernia, Abnormal... |
ORPHA:93 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Failure to thrive, Lethargy |
OMIM:617156 |
| Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
| 19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Atrial septal defect,... |
ORPHA:254346 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Eleva... |
OMIM:617253 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:75389 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect |
ORPHA:2516 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Optic nerve hypoplasia, Hypospadias, Cryptorchidism, Micropenis, Pulmo... |
OMIM:301056 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... |
OMIM:208540 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve... |
OMIM:600987 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Insulin-Like Growth Factor I, Resistance To |
|
Rieger anomaly, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardation,... |
OMIM:270450 |
| Distal Triplication 15Q |
|
Abnormal external genitalia, Hydrocephalus, Patent ductus arteriosus, Abnormal heart morphology, ... |
ORPHA:314588 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Fractures of the long bones, Abnormal pelvic girdle bone morphology |
OMIM:166600 |
| Posterior Urethral Valve |
|
Abnormal nasal morphology, Lethargy, Hypertelorism |
ORPHA:93110 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Atrial septal defect, Cryptorchidism, Retinal infarction, Patent ductus arteriosus |
OMIM:613834 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Multiple joint contractures, Metaphyseal widening, High palate, Depressed n... |
ORPHA:536467 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Increased circulating IgE level |
OMIM:611521 |
| Boutonneuse Fever |
|
Renal insufficiency, Skin rash, Maculopapular exanthema, Leukopenia, Respiratory failure, Increas... |
ORPHA:83313 |
| Ebola Hemorrhagic Fever |
|
Dyspnea, Lethargy, Cough |
ORPHA:319218 |
| Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Short stature, Atrial septal defect, Intrauterine growth retardation, Abno... |
OMIM:194190 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Microphthalmia, Decreased body weight, Shallow orbits |
OMIM:617306 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Macrocytic ane... |
OMIM:250250 |
| Cystic Fibrosis |
|
Recurrent respiratory infections, Nasal polyposis, Sinusitis, Meconium ileus, Malabsorption, Redu... |
ORPHA:586 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Coffin-Siris Syndrome 6 |
|
Atrial septal defect |
OMIM:617808 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Flat acetabula... |
OMIM:614091 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Proximal placement of thumb, Renal cyst, Clinodactyly of the 5th finger, Ectopic th... |
OMIM:113620 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Hydrocephalus, Retinal dystrophy |
OMIM:616538 |
| Doors Syndrome |
|
Respiratory distress, Adrenal hyperplasia, Polyhydramnios, Abnormal finger morphology, Nephrocalc... |
ORPHA:79500 |
| Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Renal agenesis, Congenital diaphragmatic hernia, Absent externa... |
OMIM:273395 |
| Meier-Gorlin Syndrome 4 |
|
Hypoplasia of the maxilla, Narrow mouth, Thick lower lip vermilion, Micrognathia |
OMIM:613804 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Colo... |
ORPHA:453499 |
| Norrie Disease |
|
Narrow nasal bridge, Diabetes mellitus, Aplasia/Hypoplasia of the lens, Cachexia, Cryptorchidism,... |
ORPHA:649 |
| King-Denborough Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism, Ventricular septal defect |
OMIM:619542 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Ventricular septal defect, Pericardial effusion, Intrauterine growth retardation, Hy... |
OMIM:618775 |
| Mohr-Tranebjaerg Syndrome |
|
Inability to walk, Dysphagia, Agammaglobulinemia, Shuffling gait, Aspiration pneumonia, Attention... |
ORPHA:52368 |
| Microphthalmia, Syndromic 6 |
|
Small scrotum, Anophthalmia, Adrenal hypoplasia, High palate, Clinodactyly of the 5th finger, Abn... |
OMIM:607932 |
| Dextrocardia |
|
Dextrocardia, Abnormal reproductive system morphology, Abnormality of the spleen, Situs inversus ... |
ORPHA:1666 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Psoriasiform dermati... |
ORPHA:2237 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Depressed nasal bridge, Pneumonia, Splenomegaly, Metaphyseal widening, Recurrent up... |
OMIM:253200 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Simplified gyral pattern, Atrial septal defect, Emphysema, Decreased ci... |
ORPHA:500150 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect, Hypospadias, Cryptorchidism |
OMIM:618109 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Telecanthus, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Narrow palate, High pa... |
OMIM:182212 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Restlessness, Sinusitis, Ataxia, Pneumonia, Facial palsy, Respiratory tract ... |
ORPHA:68 |
| Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:217017 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy |
OMIM:201450 |
| Scimitar Syndrome |
|
Ventricular septal defect, Dextrocardia, Mitral atresia, Patent ductus arteriosus, Partial anomal... |
ORPHA:185 |
| De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation damage, Bilateral coxa... |
OMIM:278800 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Impotence, Cardiomegaly |
OMIM:268800 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Flexion contracture, Glucose intolerance, High palate, Macrovesicular hepatic steatosis, Shallow ... |
OMIM:619127 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Retinal detachment, Remnants of the hyaloid vasc... |
ORPHA:2714 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Depressed nasal bridge, Anteverted nares, Rhizomelia, Flat capital femoral epiphys... |
OMIM:271510 |
| Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Duplication of thumb phalan... |
OMIM:601707 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Incr... |
ORPHA:457395 |
| Blau Syndrome |
|
Dyspnea, Abnormal salivary gland morphology, Xerostomia, Pulmonary arterial hypertension |
ORPHA:90340 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Type I diabetes mellitu... |
OMIM:301078 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Multiple joint contractures, Lipoatrophy, Cardiomegaly, Neonatal alloimmune th... |
ORPHA:51 |
| Trichinellosis |
|
Lethargy, Conjunctival hyperemia, Conjunctivitis, Apathy |
ORPHA:863 |
| Tay-Sachs Disease |
|
Skeletal muscle atrophy, Hip flexor weakness, Quadriceps muscle atrophy, Precocious puberty, Inab... |
ORPHA:845 |
| Maple Syrup Urine Disease |
|
Lethargy |
OMIM:248600 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
| Geleophysic Dysplasia 1 |
|
Hepatomegaly, Anteverted nares, Camptodactyly of finger, Mitral stenosis, Coxa valga, Tricuspid s... |
OMIM:231050 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Anorexia, Sterile pyuria, Renal interstitial edema, Tubulointerstitial nephrit... |
ORPHA:91500 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Cryptorchidism, ... |
ORPHA:3427 |
| Dysosteosclerosis |
|
Optic atrophy, Ventricular septal defect, Abnormal cranial nerve morphology |
ORPHA:1782 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:619721 |
| Wolfram Syndrome 2 |
|
Neurogenic bladder, Diabetes mellitus, Primary amenorrhea, Decreased circulating antibody level, ... |
OMIM:604928 |
| Van Den Ende-Gupta Syndrome |
|
Abnormal eyebrow morphology, Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxil... |
OMIM:600920 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Abnormal retinal morphology, Secundum atrial septal defect, Bilat... |
ORPHA:1600 |
| Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Cataract, Abnormality of the dentition, Abnormal eyelash morphology,... |
ORPHA:1775 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Atelectasis, In... |
ORPHA:2314 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
| Seckel Syndrome 9 |
|
Ambiguous genitalia, Ventricular septal defect, Agonadism, Atrial septal defect, Intrauterine gro... |
OMIM:616777 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... |
ORPHA:42775 |
| Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Triphalangeal thumb, Hypoplasia of the ulna, Finger syndactyly, Broad hall... |
ORPHA:959 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Wide nose, Overgrowth of ext... |
ORPHA:508 |
| Xfe Progeroid Syndrome |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo... |
OMIM:620024 |
| Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
| Noonan Syndrome 4 |
|
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
OMIM:610733 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Cleft palate |
OMIM:614402 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Ectropion |
OMIM:278730 |
| Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cardiomyopa... |
OMIM:605275 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale |
OMIM:615156 |
| Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Hypertelorism, Long philtrum, Short nose, Smooth philtrum |
OMIM:614185 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Retrograde ejaculation, Rhinitis, Anemia |
ORPHA:230 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Cryptorchidism |
ORPHA:404443 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... |
ORPHA:2688 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Pulmonic... |
OMIM:100300 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Erythroderma, Failure to t... |
OMIM:614328 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Nonproductive cough, Uveitis, Dehydration, Leukopenia, Lethargy, Conjunctival hyperemia... |
ORPHA:99826 |
| Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Femoral retroversion |
OMIM:607371 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Sex reversal, Pulmonic stenosis |
ORPHA:139466 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy, Death in childhood |
OMIM:618321 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Lacrimal duct atresia, Histiocytoid cardiomyo... |
OMIM:300952 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system |
OMIM:257910 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect |
ORPHA:500533 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Skin rash, Camptodactyly of finger, Supernumerary nipple, Eosinophilia, Kerati... |
ORPHA:464 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Septo-optic dysplasia, Decreased response to growth hormone stimulat... |
ORPHA:95494 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Lipodystrophy, Increased circulating IgA l... |
OMIM:617099 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:71212 |
| Kikuchi-Fujimoto Disease |
|
Palpebral edema, Antinuclear antibody positivity, Oral ulcer, Weight loss, Enlargement of parotid... |
ORPHA:50918 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect |
OMIM:619908 |
| Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Ventricular septal defect |
OMIM:615673 |
| Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
| Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Cryptorchidism, Patent ductus arteriosus, Hydro... |
ORPHA:2473 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect |
OMIM:611087 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Telecanthus, Median cleft lip, Hamartoma of tongue, Micrognathia, Submucous cleft so... |
ORPHA:2751 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Abnormality of neuronal migration, Hepatic calcification, Cardiomyopa... |
ORPHA:228308 |
| Kury-Isidor Syndrome |
|
Exudative vitreoretinopathy, Ventricular septal defect |
OMIM:619762 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Patent foramen ovale, Death in childhood |
OMIM:614582 |
| Cowden Syndrome 1 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth |
OMIM:158350 |
| Spondyloocular Syndrome |
|
Retinal detachment, Unilateral cryptorchidism, Mitral valve prolapse, Atrial septal defect, Dyspl... |
OMIM:605822 |
| Noonan Syndrome 9 |
|
Cryptorchidism, Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
| Isolated Epispadias |
|
Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri... |
OMIM:252150 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Optic neuropathy, Patent ductus arteriosus, Dilated cardiomyopathy, Optic atrop... |
OMIM:610505 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Cough, Bronchiectasis, Bronchiolitis oblite... |
ORPHA:99921 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Inguinal hernia, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial se... |
OMIM:612541 |
| Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect |
OMIM:620210 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Ventricular septal defect, Retinitis, Epispadias, Patent ductus arterios... |
OMIM:615948 |
| Noonan Syndrome 13 |
|
Atrial septal defect, Cryptorchidism, Mitral valve prolapse |
OMIM:619087 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Antimitochondrial antibody positivity, Antinuc... |
ORPHA:562639 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Failure to thrive |
OMIM:210210 |
| Transcobalamin Ii Deficiency |
|
Lethargy, Failure to thrive |
OMIM:275350 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
| Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
| Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Absent retinal pigment epithelium, Patent ductus arteriosus, Chorioretinal... |
ORPHA:1051 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
OMIM:619657 |
| Asthma, Short Stature, And Elevated Iga |
|
Asthma, Short stature, Increased circulating IgA level |
OMIM:208600 |
| 19P13.3 Microduplication Syndrome |
|
Precocious puberty, Intrauterine growth retardation, Ventricular septal defect, Unilateral crypto... |
ORPHA:447980 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, Atrial septal defect... |
OMIM:107480 |
| Lumbar Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Hypospadias, Renal agenesis, Spina bifida, Bifid uterus, Cryp... |
ORPHA:83628 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive |
OMIM:201470 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Lethargy, Failure to thrive, Smooth philtrum |
OMIM:277400 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Seborrheic dermatitis, Tapered fin... |
OMIM:301072 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Intrauterine growth retardation, Spina bifida occulta, Ventricular septal d... |
OMIM:617360 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Increased circulating IgE level, Short stature, Short distal phalanx of finger |
ORPHA:1858 |
| Rift Valley Fever |
|
Skin rash, Miscarriage, Anorexia, Thrombocytopenia, Jaundice, Hepatitis, Uveitis, Macular edema, ... |
ORPHA:319251 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Anosmia, Cardiomegaly |
OMIM:266500 |
| Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Recurrent urinary tract infections, Ataxia, Pneumonia, Highly arched eyebrow, Facia... |
ORPHA:309282 |
| Basal Cell Nevus Syndrome 1 |
|
Ovarian fibroma, Spina bifida, Hamartomatous stomach polyps, Orbital cyst, Wide nasal bridge, Cle... |
OMIM:109400 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia |
ORPHA:204 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Increased variability in muscle fiber diameter, Cleft palate, Bu... |
OMIM:613150 |
| 15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
| Distal Deletion 19P |
|
Hypoplasia of the maxilla, Cleft palate, Short philtrum, Thick eyebrow |
ORPHA:96129 |
| Familial Multiple Lipomatosis |
|
Coloboma, Abnormal tricuspid valve morphology, Chorioretinitis |
ORPHA:199276 |
| Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hypoplastic scapulae, Coxa valga, Congestive heart failure, Metaphyseal wid... |
OMIM:252500 |
| Familial Hypoaldosteronism |
|
Lethargy, Failure to thrive |
ORPHA:427 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Abnormal shoulder morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1422 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Stridor, Macroglossia, Ectopic thyroid, Lethargy, Thyroid hypoplasia, Goiter |
OMIM:218700 |
| Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300963 |
| Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... |
OMIM:613805 |
| Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
| Alagille Syndrome 2 |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:610205 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion |
ORPHA:79107 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Patent foramen ovale |
OMIM:620075 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res... |
ORPHA:85451 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Ventricular septal defect, Retinal degene... |
OMIM:250410 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Aspiration pneumonia, Protruding tongue |
ORPHA:53351 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad... |
OMIM:613673 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Lower limb muscle weakness, Increased circulating IgG4 level, Lymphadeni... |
ORPHA:449427 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Atrophic scars, Increased circulating IgE level, Scarring |
ORPHA:89843 |
| Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Broad finger, Microphthalmia, Short phalanx of finger |
OMIM:302350 |
| Recombinant 8 Syndrome |
|
Small scrotum, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic m... |
ORPHA:96167 |
| Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Perimembranous ventricular sept... |
OMIM:158170 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Unsteady gait, Ataxia, Impaired social interactions |
OMIM:256600 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Tachypnea |
OMIM:615751 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... |
OMIM:618213 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Epicanthus, Finger syndactyly, Brachydactyly, Prominent nasal br... |
ORPHA:1587 |
| Buratti-Harel Syndrome |
|
Atrial septal defect, Cryptorchidism, Hypospadias |
OMIM:619314 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Shprintzen-Goldberg Syndrome |
|
Telecanthus, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Retrognathia, Downslan... |
ORPHA:2462 |
| Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Intestinal obstruction, Ataxia, Increased circulating IgA level, Peritonitis, Growt... |
ORPHA:343 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Abnormal heart morphology, Lower-limb joint contrac... |
ORPHA:99885 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus,... |
OMIM:617022 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the ra... |
ORPHA:958 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in infancy, Ventricular septal defect, Death in childhood |
OMIM:616901 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, High palate, Highl... |
OMIM:180849 |
| Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
| Bohring-Opitz Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Abnormal optic ... |
OMIM:605039 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
| Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Blepharospasm, Bradykinesia, Apathy, Difficulty in tongue movements, Lethargy |
ORPHA:306674 |
| Al Kaissi Syndrome |
|
Atrial septal defect, Intrauterine growth retardation |
OMIM:617694 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Anteverted nares, Cardiomegaly, Wide nasal bridge, Umbilical her... |
ORPHA:1517 |
| Wiedemann-Steiner Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Cryptorchidism |
OMIM:605130 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Hepatomegaly, Limb joint contracture, Decreased resting energy expenditure, Nodular regenerative ... |
ORPHA:404454 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Growth delay, Increased u... |
OMIM:252160 |
| Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Premature ovarian insufficiency, Abno... |
ORPHA:79474 |
| Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Cardiomegaly, Hepatoblastoma, Hypothyroidism, Polycythemia, Hepa... |
ORPHA:116 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect, Cryptorchidism, Meningocele, Umbilical hernia, Iris coloboma |
ORPHA:2789 |
| Fanconi Anemia, Complementation Group R |
|
Anal atresia, Radial dysplasia, Absent thumb, Microphthalmia, Anemia |
OMIM:617244 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Allergic rhinitis, Abnormal eyelash morphology, Increased circulatin... |
ORPHA:90368 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arterios... |
OMIM:214100 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Wide nose, Cardiomegaly, Abnormal columella morphology, Abnormal thymus morphology, Loss of trunc... |
ORPHA:2463 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Displacem... |
ORPHA:1727 |
| X Small Rings |
|
Premature ovarian insufficiency, Ventricular septal defect, Bicuspid aortic valve, Primary amenor... |
ORPHA:96201 |
| Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
| Shashi-Pena Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus |
OMIM:617190 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly |
OMIM:618798 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Periodontitis, Finger joint hypermobility, Uterine rupture, Em... |
OMIM:130050 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy, Failure to thrive, Tachypnea |
ORPHA:415 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Septate vagina, Valvular pulmonary stenosis, Bicornuate uterus, Rectovagin... |
OMIM:300707 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreore... |
OMIM:259770 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydrane... |
ORPHA:1393 |
| Brachydactyly, Type B1 |
|
Micropenis, Ventricular septal defect |
OMIM:113000 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Retinal dystrophy, Pulmonic stenosis |
OMIM:615802 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Finger syndactyly, Congen... |
OMIM:308050 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Peripheral opacification of the cornea, Corneal opacity, Micrognathia,... |
OMIM:259600 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Hydrocephalus |
ORPHA:459061 |
| Oeis Complex |
|
Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambiguous genitalia, male, Dupli... |
OMIM:258040 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Short distal phalanx ... |
ORPHA:1512 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial se... |
OMIM:617478 |
| Phaver Syndrome |
|
Intrauterine growth retardation, Myelomeningocele, Ventricular septal defect |
ORPHA:2876 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Patent ductus arteriosus, Pulm... |
OMIM:617506 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Umbilical hernia, Abnormal mitral valve morphology, Intrauterine growth ret... |
ORPHA:1292 |
| Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Hydrocephalus, Patent ductus arteriosus |
ORPHA:1860 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Shawl scrotum |
ORPHA:261279 |
| Fucosidosis |
|
Hepatomegaly, Wide nose, Depressed nasal bridge, Cardiomegaly, Splenomegaly, Vacuolated lymphocyt... |
OMIM:230000 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Intrauterine growth retardation, Patent ductus arteriosus, Overriding aorta, Ventricular septal d... |
OMIM:617021 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
| Methimazole Embryofetopathy |
|
Intrauterine growth retardation, Ventricular septal defect, Hypospadias |
ORPHA:1923 |
| Tempi Syndrome |
|
Transudative pleural effusion, Abnormality of the kidney, Hypoxemia, Increased circulating IgG le... |
ORPHA:284227 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism |
OMIM:617713 |
| Short-Rib Thoracic Dysplasia 12 |
|
Ambiguous genitalia, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Anenceph... |
OMIM:269860 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Gonadal dysgenesis, Ventricular septal defect, Polycystic ovaries |
ORPHA:1770 |
| Costello Syndrome |
|
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic... |
ORPHA:3071 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Hydrocephalus, Meningocele, Pat... |
OMIM:130720 |
| Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Ventricular septal defect, Unilateral cryptorchidism, Optic disc coloboma,... |
OMIM:174300 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Yunis-Varon Syndrome |
|
Polyhydramnios, Short metatarsal, Hydrops fetalis, High palate, Absent hallux, Aspiration pneumon... |
OMIM:216340 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Hydrocephalus, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, R... |
OMIM:253280 |
| Primary Biliary Cholangitis |
|
Autoimmunity, Portal hypertension, Increased circulating IgA level, Abnormality of the thyroid gl... |
ORPHA:186 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Right atria... |
ORPHA:99104 |
| Chromosome 10Q26 Deletion Syndrome |
|
Small scrotum, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Micropenis |
OMIM:609625 |
| Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadias, Situs inve... |
ORPHA:289 |
| Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... |
OMIM:601346 |
| Cockayne Syndrome Type 3 |
|
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter, Skeletal muscle atrophy, Unil... |
ORPHA:90324 |
| Skraban-Deardorff Syndrome |
|
Ventricular septal defect |
OMIM:617616 |
| Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect, Precocious puberty, Cryptorchidism, Labial hypoplasia, Micropenis |
OMIM:620073 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Maculopapular exanthema, Eosinophilia, Supernumerary nipple, Keratitis, ... |
OMIM:308300 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Hydrocephalus, Mitral valve prolapse... |
OMIM:245600 |
| 16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Dilated cardiomyopathy, Ventricular septal defect, Optic nerve hypoplasia |
ORPHA:261250 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Cryptorchidism, Abnorma... |
ORPHA:352665 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Cryptorchidism, Abnorma... |
ORPHA:453504 |
| Citrullinemia, Classic |
|
Lethargy, Failure to thrive |
OMIM:215700 |
| Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Weight loss, Abnormality of the bladder, Nephrotic... |
ORPHA:29073 |
| Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Synophrys, Lens coloboma, Prominent fingertip pads, Clin... |
OMIM:619539 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal phalanges of the ... |
OMIM:271665 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Bicuspid aortic valve, High, narrow palate, Rectal prolapse, High palate, Prominent... |
OMIM:309800 |
| Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Precocious puberty, Optic disc coloboma,... |
ORPHA:50 |
| Peeling Skin Syndrome 1 |
|
Short stature, Eosinophilia, Asthma, Increased circulating IgE level, Palmoplantar hyperhidrosis,... |
OMIM:270300 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Respira... |
ORPHA:79138 |
| Waardenburg Syndrome Type 3 |
|
Atrial septal defect |
ORPHA:896 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Aganglionic megacolon, Hypos... |
ORPHA:818 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Intrauterine growth retardation, Patent foramen ovale, Hypospadias |
OMIM:619184 |
| Alazami Syndrome |
|
Atrial septal defect |
ORPHA:319671 |
| Anterior Segment Dysgenesis 2 |
|
Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia |
OMIM:610256 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Lethargy |
OMIM:277410 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Cryptorchidism, At... |
OMIM:235510 |
| Glycine Encephalopathy |
|
Lethargy, Respiratory acidosis, Breathing dysregulation |
ORPHA:407 |
| 19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Ventricular septal defect, Hypospadias, Cryptorchidism, Intrauterine growth retard... |
ORPHA:217346 |
| Saethre-Chotzen Syndrome |
|
Abnormal nasolacrimal system morphology, Long nose, Hypoplasia of the maxilla, Cleft of chin, Nar... |
OMIM:101400 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy, Ge... |
OMIM:619183 |
| Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
| Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Micrognathia, Hypoplasia of the maxilla, Thick vermilion border, Narrow mouth,... |
OMIM:613803 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:619720 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Malabsorption, Dyspnea, 2-3 toe syndactyly, Renal tubular dysfunction, G... |
OMIM:616539 |
| Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Intrauterine ... |
OMIM:612562 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Pulmo... |
OMIM:610759 |
| Pelger-Huet Anomaly |
|
Umbilical hernia, Ventricular septal defect |
OMIM:169400 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Cardiomyopathy, Patent ductus arteriosus, Patent foramen ovale |
OMIM:616866 |
| Aortic Valve Disease 2 |
|
Patent foramen ovale, Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:614823 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Medulloblastoma |
|
Lethargy, Adenomatous colonic polyposis |
ORPHA:616 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Atrial septal defect, Hypospadias, Iris coloboma |
ORPHA:436003 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Optic disc pallor, Ventricular septal defect, Hypospadias, Cryptorchidism, Pa... |
ORPHA:464311 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive |
OMIM:311250 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Anteverted nares, Broad nasal tip, Hypertelorism, Cleft palate, Restrictive ventilatory defect, F... |
OMIM:272460 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Epicanthus, Inguinal hernia, Apnea, Abnormality of the menstrual cycle, Malabsorption, Osteoarthr... |
ORPHA:285 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Aplastic clavicle, Short middle phalanx of the 2nd finger, Hip dislocation,... |
OMIM:119600 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Abnormally large globe, Secundum atrial septal defect, Mitral valve pr... |
OMIM:249420 |
| Meier-Gorlin Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Long eyelashes, High palate, Thick vermili... |
OMIM:224690 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
| Cooper-Jabs Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1488 |
| 20Q13.33 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal cardiac ventricle morphology, Hypospadias, Decreased scrotal rugation |
ORPHA:261311 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:3044 |
| Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Holoprosencephaly, Situs inversus totalis |
OMIM:202650 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Neonatal Marfan Syndrome |
|
Iridodonesis, Ectopia lentis, Micrognathia, High, narrow palate, Wide nasal bridge, Megalocornea,... |
ORPHA:284979 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Underdeveloped nasal alae, Biliary hyper... |
ORPHA:83617 |
| Mosaic Trisomy 16 |
|
Ventricular septal defect, Hypospadias, Large placenta, Patent ductus arteriosus, Abnormal heart ... |
ORPHA:1708 |
| Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Epicanthus, Depressed nasal bridge, Abnormal scrotal rugation, Cryptorch... |
ORPHA:284339 |
| Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology |
ORPHA:261197 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect |
OMIM:619115 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... |
OMIM:270100 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Lymphadenitis, Leukocytos... |
OMIM:260920 |
| Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Nephrolithiasis, Periodontitis, Abnormal fallopian tube morphology, A... |
ORPHA:722 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrial septal defect, Left ventricular hypertrophy, Abnormal heart valve morphology, Mitral valve... |
ORPHA:230851 |
| Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Complete atrioventricular canal defect, Patent ... |
OMIM:190685 |
| Neuroleptic Malignant Syndrome |
|
Proteinuria, Urinary incontinence, Pulmonary embolism, Leukocytosis, Rhabdomyolysis, Dehydration,... |
ORPHA:94093 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Hypoplastic labia majora, Atrial septal defect, Vaginal atresia, Fused labia minora |
OMIM:207410 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... |
OMIM:617394 |
| Aregenerative Anemia |
|
Pancytopenia, Dyspnea, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion... |
ORPHA:101096 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Hypoplastic ilia, Ad... |
ORPHA:3144 |
| Argininosuccinic Aciduria |
|
Lethargy, Failure to thrive |
OMIM:207900 |
| Velocardiofacial Syndrome |
|
Ventricular septal defect, Cryptorchidism, Retinal vascular tortuosity, Umbilical hernia, Tetralo... |
OMIM:192430 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis, Short distal phalanx of finger |
OMIM:277450 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cryptorchidism, Ventricular septal defect, Dysplastic pulmonary valve, Hypospadias |
OMIM:619103 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Telecanthus, Camptodactyly of finger, Supernumerary nipple, Tapered finger, Microphthalmia, Broad... |
ORPHA:1236 |
| Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Death in childh... |
OMIM:600460 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, Micropenis |
OMIM:619951 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Transposition of the great arteries |
OMIM:619910 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Retinal dystrophy, Ventricular septal defect, Atrial septal defect, Micropenis |
OMIM:263520 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormality of female external genitalia, Precocious puberty, Patent ductus arteriosus, Atrial se... |
ORPHA:2637 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:269400 |
| Thauvin-Robinet-Faivre Syndrome |
|
Coloboma, Ventricular septal defect, Retinal coloboma, Mitral valve prolapse |
OMIM:617107 |
| Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
| Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Atrial septal d... |
OMIM:300712 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Pulmonary embolism, Dyspnea, Conjunctival icterus, Impotence, Lethargy |
ORPHA:447 |
| Camurati-Engelmann Disease |
|
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga... |
ORPHA:1328 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Optic atrophy, Abnormal cardiac sep... |
ORPHA:280 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
| Hand-Foot-Genital Syndrome |
|
Miscarriage, Ventricular septal defect, Hypospadias, Bicornuate uterus, Abnormality of the uterus |
ORPHA:2438 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Optic disc coloboma,... |
ORPHA:261337 |
| Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Cleft ... |
ORPHA:2554 |
| Pseudo-Torch Syndrome 1 |
|
Umbilical hernia, Patent ductus arteriosus, Patent foramen ovale |
OMIM:251290 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Patent ductus arteriosus, Intrauterine growth retardation, Ventricular septal defect, Patent fora... |
OMIM:620113 |
| De Barsy Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Umbilical hernia, Intrauteri... |
ORPHA:2962 |
| Tarp Syndrome |
|
Cryptorchidism, Optic atrophy, Atrial septal defect, Intrauterine growth retardation, Tetralogy o... |
ORPHA:2886 |
| Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Fetal ascites, Abnormal lung morphology, Hydrops fetalis, Abnormality of ... |
ORPHA:646 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Optic atrophy, Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect |
OMIM:617895 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
ORPHA:3426 |
| Ellis-Van Creveld Syndrome |
|
Hypospadias, Epispadias, Cryptorchidism, Atrial septal defect, Common atrium |
OMIM:225500 |
| Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Cle... |
OMIM:300990 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Abnormal diaphysis morphology, Abnormal metaphysis... |
ORPHA:2021 |
| Yuan-Harel-Lupski Syndrome |
|
Decreased nerve conduction velocity, Ventricular septal defect, Double outlet right ventricle, Bi... |
OMIM:616652 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:397709 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hypospadias, Precocious puberty, ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hypospadias, Precocious puberty, ... |
ORPHA:363958 |
| Bohring-Opitz Syndrome |
|
Depressed nasal bridge, Anteverted nares, Cardiomegaly, Bilateral wrist flexion contracture, Wide... |
ORPHA:97297 |
| Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
| Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding |
ORPHA:252183 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
| Kabuki Syndrome 2 |
|
Atrial septal defect, Intrauterine growth retardation, Atrioventricular canal defect, Pulmonic st... |
OMIM:300867 |
| Peroxisome Biogenesis Disorder 4B |
|
Short nose, Hypertelorism |
OMIM:614863 |
| Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Coxa valga, Flared metaphysis, Hip dislocation, Cone-shaped ... |
OMIM:309350 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Intrauterine growth retardation, Dextrocardia |
ORPHA:2257 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Rectovaginal fistula, Transposition of th... |
ORPHA:1780 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... |
ORPHA:555905 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Glucose intolerance, Abnormality of the liver, Impaired glucose tolerance |
OMIM:610131 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Prominent nasal bridge, Underdeveloped nasal alae, Splenomegaly, Wide nasal bridge,... |
ORPHA:163746 |
| Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Atrial sep... |
OMIM:619268 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, High palate, Ap... |
OMIM:276820 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy |
OMIM:619121 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect, Hypospadias |
OMIM:612528 |
| Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Patent ductus arteriosus, Double inlet left ventricle, Atrial septal defect, T... |
OMIM:619869 |
| Radio-Tartaglia Syndrome |
|
Precocious puberty, Ventricular septal defect |
OMIM:619312 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Entropion, Dental crowding, Hypoplasia of the maxilla, High palate, Narrow... |
OMIM:617402 |
| Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Retinal co... |
ORPHA:500095 |
| Genitopatellar Syndrome |
|
Atrial septal defect, Cryptorchidism, Small scrotum, Clitoral hypertrophy |
ORPHA:85201 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, ... |
ORPHA:163979 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
| Lissencephaly Due To Lis1 Mutation |
|
Polyhydramnios, Anterior predominant thick cortex pachygyria, Aspiration pneumonia, Pachygyria, P... |
ORPHA:95232 |
| Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Cryptorchidism, Coronary artery fistula, Abnormal cardia... |
OMIM:614294 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorr... |
OMIM:153670 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Optic disc hypoplasia, Ventricular septal defect |
OMIM:619306 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Micrognathia, Narrow palpebral fissure, High palate, Downslanted pa... |
OMIM:614437 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
| Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:614609 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:614300 |
| Oculoectodermal Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Chorioretinal atrophy |
OMIM:600268 |
| Holoprosencephaly 14 |
|
Ventricular septal defect, Cyclopia, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus... |
OMIM:619895 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
| Tick-Borne Encephalitis |
|
Skeletal muscle atrophy, Facial palsy, Anorexia, Thrombocytopenia, Leukocytosis, Leukopenia, Incr... |
ORPHA:297 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Micropenis, Ventricular septal defect, Cryptorchidism |
OMIM:235255 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect, Intrauterine growth retardation |
OMIM:620183 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Intrauterine growth retardation, Ventricular septal defect, Retinal hemorrhage |
OMIM:614653 |
| Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the radiu... |
OMIM:200980 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Hyperhidrosis, Recurrent aspiration pneumonia, Self-mutilation, Nail-biting, Hyperacti... |
ORPHA:642 |
| Plague |
|
Respiratory distress, Hepatomegaly, Chapped lip, Skin rash, Edema, Erythema nodosum, Splenomegaly... |
ORPHA:707 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypop... |
ORPHA:1112 |
| Codas Syndrome |
|
Ventricular septal defect, Cryptorchidism, Rectovaginal fistula, Atrial septal defect, Atrioventr... |
OMIM:600373 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Double outlet r... |
ORPHA:163956 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arterios... |
ORPHA:464306 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Hydrocele testis, Retinal coloboma, Transposition of the great arterie... |
OMIM:280000 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:84064 |
| 3Mc Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Spina bifida occulta, Ventricular septal defect |
OMIM:257920 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Death in infancy, Ambiguous genitalia, Small scrotum, Ventricular septal defect, A... |
OMIM:270400 |
| Chime Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Retinal coloboma, Transposition of the great arte... |
ORPHA:3474 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Hydrocephalus, Patent ductus arteriosus |
OMIM:618162 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardati... |
ORPHA:261330 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
| Larsen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Atrial septal defect, Intrauterine growth retardation,... |
OMIM:150250 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Dilatation of the ventricular cavity, Atr... |
ORPHA:459070 |
| Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Facial palsy, Hydrocephalus, Patent ductus arteriosus, Atrial septal d... |
OMIM:300373 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Small for gestational age, Microphthalmia, Anemia, Abnormality of the medulla... |
OMIM:127000 |
| Leigh Syndrome |
|
Ventricular septal defect, Optic atrophy, Abnormal optic nerve morphology, Intrauterine growth re... |
ORPHA:506 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Campomelic Dysplasia |
|
Hallux valgus, Bowing of the long bones, Hypoplastic scapulae, Anterior tibial bowing, Metatarsus... |
OMIM:114290 |
| Cerebellofaciodental Syndrome |
|
Cryptorchidism, Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
| Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect, Cryptorchidism, A... |
OMIM:617063 |
| Hereditary Fructose Intolerance |
|
Lethargy |
ORPHA:469 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Hypospadias, Ovotestis, Sex reversal, Intrauterine growth retardation |
OMIM:611812 |
| Hardikar Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Partial anomalous pulmonary venous return, P... |
OMIM:301068 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Cryptorchidism, Uterine leiomyoma, Glandular hypospadias |
ORPHA:1439 |
| Cardioacrofacial Dysplasia 2 |
|
Common atrium, Atrioventricular canal defect |
OMIM:619143 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Micrognathia, Hypoplasia of the ma... |
ORPHA:96334 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
| Exercise-Induced Malignant Hyperthermia |
|
Lethargy, Tachypnea, Crackles, Hypocapnia |
ORPHA:466650 |
| Hamamy Syndrome |
|
Atrial septal defect, Complete atrioventricular canal defect, Cryptorchidism |
OMIM:611174 |
| Wolcott-Rallison Syndrome |
|
Atrial septal defect, Double outlet right ventricle |
ORPHA:1667 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect, Optic neuropathy, Phthisis bulbi, Optic atrophy, Optic nerve compression |
OMIM:619727 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect, Re... |
ORPHA:369837 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Hypoplastic left hear... |
ORPHA:99050 |
| Opitz Gbbb Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Umbilical hernia, Micropenis |
OMIM:300000 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
OMIM:607721 |
| Poland Syndrome |
|
Encephalocele, Hypospadias, Dextrocardia, Retinal hamartoma, Cryptorchidism, Atrial septal defect... |
ORPHA:2911 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Osteoarthritis, Periodontitis, Uterine rupture, Hypospadias, Short stature, ... |
ORPHA:286 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
| Lethal Kniest-Like Dysplasia |
|
Atrial septal defect |
ORPHA:2347 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Chordee, Hypospadias |
OMIM:618891 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Lymp... |
OMIM:300291 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Bladder Exstrophy And Epispadias Complex |
|
Abnormal pelvic girdle bone morphology |
OMIM:600057 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect |
OMIM:219730 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, ... |
OMIM:210710 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Retrognathia, Abnormality iris morphology |
ORPHA:91387 |
| Loeys-Dietz Syndrome 5 |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:615582 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect |
ORPHA:457351 |
| Greenberg Dysplasia |
|
Micrognathia, Hypoplasia of the maxilla, Stillbirth, Neonatal death, Retrognathia |
OMIM:215140 |
| Diphallia |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Epispadias, Cryptorchidism, Penoscrotal transp... |
ORPHA:227 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Alagille Syndrome 1 |
|
Ventricular septal defect, Chorioretinal atrophy, Pigmentary retinopathy, Atrial septal defect, T... |
OMIM:118450 |
| Coats Disease |
|
Leukocoria |
OMIM:300216 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Death in adolescence |
OMIM:619229 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Hypoplastic left heart, Tetralo... |
OMIM:618748 |
| Eisenmenger Syndrome |
|
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art... |
ORPHA:97214 |
| Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, ... |
OMIM:102500 |
| Floating-Harbor Syndrome |
|
Persistence of primary teeth, Long nose, Hypoplasia of the maxilla, Carious teeth, Wide mouth, Ol... |
ORPHA:2044 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:618223 |
| Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Bilateral cryptorchidism, Epispadias, Patent ductus arteriosus, Retina... |
ORPHA:434179 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Mosaic Trisomy 20 |
|
Ventricular septal defect, Cryptorchidism, Dysplastic tricuspid valve, Abnormal mitral valve morp... |
ORPHA:1724 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity |
ORPHA:1764 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
| Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hypothyroidism, Hepatic fibrosis, Ci... |
ORPHA:14 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Ventricular septal defect, Dextrocardia, Hypospadias, Situs inversus t... |
ORPHA:2461 |
| Tetraamelia Syndrome 2 |
|
Micropenis, Ventricular septal defect |
OMIM:618021 |
| Restrictive Dermopathy 1 |
|
Hypospadias, Patent ductus arteriosus, Hydropic placenta, Stillbirth, Short umbilical cord, Neona... |
OMIM:275210 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261323 |
| Hajdu-Cheney Syndrome |
|
Mitral stenosis, Ventricular septal defect, Hypospadias, Hydrocephalus, Patent ductus arteriosus,... |
ORPHA:955 |
| Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Intrauterine growth retardation, Micropenis, Shawl scrotum |
OMIM:620076 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Decreased fertility, Abnormality ... |
ORPHA:3138 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Cryptorchidism, Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary window |
OMIM:620025 |
| Fructose Intolerance, Hereditary |
|
Lethargy, Failure to thrive |
OMIM:229600 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Telecanthus, Adenoma sebaceum |
ORPHA:2612 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Intrauterine growth retardation, Vesicovaginal fistula, Rod-cone dystrophy |
OMIM:300896 |
| Neurooculorenal Syndrome |
|
Dextrocardia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Tetralog... |
OMIM:620305 |
| Juvenile Polyposis Of Infancy |
|
Atrial septal defect, Patent ductus arteriosus, Freckled genitalia, Abnormal heart morphology |
ORPHA:79076 |
| Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Ptosis |
OMIM:146500 |
| Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606232 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Atriov... |
ORPHA:3047 |
| Johanson-Blizzard Syndrome |
|
Hepatic fibrosis, Atrial septal defect, Micropenis, Hypothyroidism, Hepatomegaly, Hypospadias, Se... |
OMIM:243800 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Flexion contracture, Dysphagia, Left ventricular hypertrophy, Hypertr... |
ORPHA:365 |
| Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
| Gabriele-De Vries Syndrome |
|
Intrauterine growth retardation, Patent foramen ovale, Cryptorchidism |
OMIM:617557 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Patent ductus arteriosus, Mitral ... |
OMIM:609192 |
| Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Atrial septal defect, Intrauterine growth retardat... |
OMIM:105650 |
| Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Atrial... |
OMIM:157800 |
| Cerebellar-Facial-Dental Syndrome |
|
Cryptorchidism, Ventricular septal defect, Mitral valve prolapse |
ORPHA:444072 |
| Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta... |
OMIM:182250 |
| Mgat2-Cdg |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:79329 |
| Pineoblastoma |
|
Lethargy, Pinealoma |
ORPHA:251909 |
| Lymphatic Malformation 6 |
|
Atrial septal defect, Hydrocele testis |
OMIM:616843 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Atrial septal defect, Death in infancy, Patent ductus arteriosus, Micropenis |
OMIM:300868 |
| Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Vaginal atresia |
OMIM:101200 |
| Tbck-Related Intellectual Disability Syndrome |
|
Cryptorchidism, Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Urinary incontinence, Hypopnea, Restrictive ventilatory defect, Aspiratio... |
OMIM:619482 |
| Costello Syndrome |
|
Ventricular septal defect, Hydrocephalus, Mitral valve prolapse, Vestibular schwannoma, Pulmonic ... |
OMIM:218040 |
| Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613309 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect |
OMIM:615503 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Bilateral cryptorchidism, Micropenis, Atrial septal defect, Hypertrophic... |
OMIM:617403 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Secundum atrial... |
OMIM:619534 |
| Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, Bilateral cryptorchidism, Patent ductus arteriosus, Cryptor... |
OMIM:614976 |
| Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Septo-optic dysplasia, Hypospadias, Cryptorchidism, Patent ductus ar... |
OMIM:619841 |
| Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Patent duct... |
OMIM:154400 |
| Frontometaphyseal Dysplasia 2 |
|
Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Patent forame... |
OMIM:617137 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Mucolipidosis Type Ii |
|
Abnormal mitral valve morphology, Cardiomyopathy, Abnormal aortic valve morphology, Left ventricu... |
ORPHA:576 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Ventricular septal defect, Hypoplasia of facial musculatur... |
OMIM:164210 |
| Renal Agenesis |
|
Absent vas deferens, Ventricular septal defect, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
| Turnpenny-Fry Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, ... |
OMIM:618371 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Hypospadias, Spina bifida, Patent ductus arte... |
OMIM:192350 |
| Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Atrial septal defect, Intrauterine growth reta... |
OMIM:619573 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal arteriolar tortuosity, Hydrocephalus, Retinal hemorrhage, Hypoplasia of the iris, Peripap... |
OMIM:175780 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Increased circulating IgE level |
OMIM:607676 |
| Restrictive Dermopathy |
|
Hypospadias, Dextrocardia, Large placenta, Patent ductus arteriosus, Short umbilical cord, Small ... |
ORPHA:1662 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect |
OMIM:178110 |
| Esophageal Atresia |
|
Coloboma, Abnormal external genitalia, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1199 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Depressed nasal bridge, Cardiomegaly |
ORPHA:79280 |
| Trichohepatoneurodevelopmental Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:618268 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Umbilical hernia, Intr... |
OMIM:616145 |
| Diets-Jongmans Syndrome |
|
Umbilical hernia, Ventricular septal defect, Hypospadias, Cryptorchidism |
OMIM:618846 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
| Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Atrial septal defect, Umbil... |
OMIM:304120 |
| Cranioectodermal Dysplasia 2 |
|
Atrial septal defect, Patent ductus arteriosus, Left ventricular hypertrophy, Patent foramen ovale |
OMIM:613610 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve |
OMIM:271640 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Patent foramen ovale |
OMIM:225250 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Aganglionic megacolon, Hypospadias, Cryptorchidism, Neonatal death, Death in ch... |
OMIM:308205 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Patent ductus arteriosus, Mitral ... |
OMIM:610168 |
| Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Atrial septal defect, Umbili... |
OMIM:136140 |
| Thrombocytopenia 1 |
|
Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Ventricular septal defect |
OMIM:619575 |
| Cerebrocostomandibular Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:117650 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
| Feingold Syndrome 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis |
OMIM:164280 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Chordee, Patent foramen ovale, Hypospadias |
ORPHA:477993 |
| Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Cryptorchidism, Pulmonic stenosis |
OMIM:601321 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Uterine prolapse, Bicuspid aortic valve, Patent ductus arteriosus, Cysto... |
OMIM:613795 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
OMIM:616682 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... |
OMIM:143095 |
| Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Umbilical hernia, Micropenis, Ventricular septal defect |
ORPHA:1934 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cyanosis, Adrenal calcification, Cardiomegaly, Pericardial effusion, Hep... |
ORPHA:51608 |
| Gabriele-De Vries Syndrome |
|
Intrauterine growth retardation, Ebstein anomaly of the tricuspid valve, Patent foramen ovale, Cr... |
ORPHA:506358 |
| Genitopatellar Syndrome |
|
Small scrotum, Ventricular septal defect, Enlarged labia minora, Cryptorchidism, Labial hypoplasi... |
OMIM:606170 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse, Ventricular septal defect |
OMIM:123700 |
| Sotos Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Hypospadias, Phimosis, Cryptorchidism, Patent d... |
ORPHA:821 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:436252 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis |
OMIM:250220 |
| Congenital Tracheal Stenosis |
|
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart |
ORPHA:141127 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Increased axial length of the globe |
ORPHA:513456 |
| Digeorge Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocele testis, Ovarian cyst, Umbilical he... |
OMIM:188400 |
| Keutel Syndrome |
|
Miscarriage, Ventricular septal defect, Pulmonic stenosis |
OMIM:245150 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve |
OMIM:613355 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus |
ORPHA:480880 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300106 |
