| 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 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 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| 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 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Growth delay, Hematochezia, Folliculitis, Pyoderma, Colitis, Cro... |
OMIM:613148 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Acrocyanosis, Death in childhood |
OMIM:302000 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Growth delay, Inflammation ... |
OMIM:266600 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Breath-Holding Spells |
|
Cyanosis, Pallor |
OMIM:607578 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Pallor |
ORPHA:79283 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Renal cyst |
OMIM:109130 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper ... |
OMIM:263000 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Failure to thrive, Cyanosis, Crazy paving pattern, Nonspecific interstitial pne... |
OMIM:610921 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Increased bone mineral density, Cortical sclerosis, Osteopetrosis... |
OMIM:620366 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... |
ORPHA:753 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Cyanosis, Desquamative interstitial pneumonitis, Intraalveolar phospholipid acc... |
OMIM:265120 |
| Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Short stature |
ORPHA:2901 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
| Immunodeficiency, Common Variable, 11 |
|
Growth delay, Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Intrauterine growth retardation, Redundant skin |
OMIM:301021 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Immunodeficiency 76 |
|
Growth delay, Chronic diarrhea, Colitis, Recurrent pneumonia |
OMIM:619164 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin... |
OMIM:617638 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... |
OMIM:300635 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Jaundice, Short stature, Pallor |
OMIM:615631 |
| Acute Myelomonocytic Leukemia |
|
Pallor, Weight loss |
ORPHA:517 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis |
OMIM:615190 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Failure to thrive, Cyanosis |
ORPHA:91130 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Failure to thrive, Pallor |
OMIM:613561 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Pleural effusion, Cyanosis, Pallor |
ORPHA:60041 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Failure to thrive, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Intral... |
OMIM:610913 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
| Buerger Disease |
|
Acrocyanosis, Skin ulcer |
ORPHA:36258 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor, Flushing |
ORPHA:98820 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Hypoxemia, Pulmonary edema |
ORPHA:70587 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Cyanosis, Pneumothorax, Hypoxemia, Pulmonary hypoplasia, Abnorm... |
ORPHA:2257 |
| Asbestos Intoxication |
|
Cyanosis, Lung adenocarcinoma, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial m... |
ORPHA:2302 |
| 46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
| Immunodeficiency 70 |
|
Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia |
OMIM:618969 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... |
OMIM:619281 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelect... |
ORPHA:79126 |
| Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Anterior uveitis, Colitis, Skin rash |
OMIM:616744 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
| Congenital Pulmonary Lymphangiectasia |
|
Growth delay, Pleural effusion, Cyanosis |
ORPHA:2414 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
| Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis, Intraut... |
OMIM:614602 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis, Obesity |
OMIM:257500 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... |
OMIM:614841 |
| Idiopathic Pulmonary Hemosiderosis |
|
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Pallor, Pulmonary fibrosis, Retic... |
ORPHA:99931 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Cafe-au-lait spot, Hypopigmentation of the skin, ... |
OMIM:618541 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
| Evans Syndrome |
|
Jaundice, Bruising susceptibility, Pallor, Petechiae |
ORPHA:1959 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Eczema, Postnatal growth retardation, Celiac disease, Thyroiditis, Delayed puberty |
OMIM:618985 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Immunodeficiency 60 And Autoimmunity |
|
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease |
OMIM:618394 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Generalized hypopigmentation, Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Pallor |
ORPHA:276608 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Short stature, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, E... |
OMIM:616050 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, Growth delay, High palate, Vomiting |
OMIM:616809 |
| Encephalopathy, Ethylmalonic |
|
Death in infancy, Failure to thrive, Acrocyanosis, Petechiae |
OMIM:602473 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor |
ORPHA:49827 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Bruising susceptibility, Pallor, Weight loss |
ORPHA:3226 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Intraalveolar phospholipid a... |
OMIM:610910 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... |
OMIM:243150 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Pneumothorax, Cyanosis, Weight loss |
ORPHA:1302 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
| Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Growth delay, Interstitial pneumonitis, Ch... |
OMIM:616433 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
| Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... |
OMIM:618108 |
| Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
| Retinitis Pigmentosa 51 |
|
Pallor, Obesity |
OMIM:613464 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Short stature, Pallor |
OMIM:611590 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Pallor |
ORPHA:163596 |
| Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Pallor, Large for gestational age |
ORPHA:324575 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Increased urina... |
ORPHA:85188 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... |
ORPHA:436159 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Small for gestational age |
ORPHA:621 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Tetrasomy 5P |
|
Recurrent respiratory infections, Redundant neck skin, Cyanosis, Postnatal growth retardation, Pu... |
ORPHA:3309 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Short stature, Eczema, Alle... |
OMIM:618131 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... |
OMIM:259700 |
| Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Pallor, Poor wound healing |
ORPHA:536516 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... |
OMIM:614700 |
| High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis, Pulmonary edema |
ORPHA:330012 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Delayed patellar ossification, Increased bone mineral density, Oligos... |
ORPHA:163649 |
| Non-Functioning Paraganglioma |
|
Weight loss, Pallor, Flushing |
ORPHA:94080 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Large for gestational age |
ORPHA:276556 |
| Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Cyanosis |
OMIM:250800 |
| Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
| Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor, Large for gestational age |
ORPHA:276575 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Recurrent sinusitis |
OMIM:613101 |
| Dravet Syndrome |
|
Cyanotic episode, Pallor |
ORPHA:33069 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Large for gestational age |
ORPHA:276580 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Cyanotic episode, Failure to thrive in infancy |
ORPHA:284417 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Intraalveolar phospholipid accumulation, Weight loss, Hypoxemia |
ORPHA:747 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... |
ORPHA:1782 |
| Ethylmalonic Encephalopathy |
|
Failure to thrive, Acrocyanosis, Petechiae |
ORPHA:51188 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
| Leishmaniasis |
|
Pallor, Skin ulcer, Weight loss |
ORPHA:507 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Growth delay, Acrocyanosis, Short stature, Pneumonia |
ORPHA:1867 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Hypo... |
ORPHA:199241 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Failure to thrive, Pallor, Delayed puberty |
OMIM:600462 |
| Primary Myelofibrosis |
|
Cachexia, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
| Rheumatic Fever |
|
Recurrent pharyngitis, Erythema, Pallor, Abnormal pleura morphology |
ORPHA:3099 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Jaundice, Pallor |
OMIM:266200 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis |
OMIM:614878 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Intrauterine growth retard... |
OMIM:620133 |
| Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Proteinuria, Flexion contracture, Synovitis, Incre... |
ORPHA:77297 |
| Elliptocytosis 1 |
|
Jaundice, Pallor |
OMIM:611804 |
| Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Failure to thrive, Pallor |
ORPHA:90045 |
| 12Q14 Microdeletion Syndrome |
|
Ectopic kidney, Osteopoikilosis, Renal hypoplasia, Horseshoe kidney, Hyperpigmentation of the skin |
ORPHA:94063 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... |
ORPHA:37042 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Short stature, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurre... |
OMIM:618935 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Jaundice, Pallor |
OMIM:613839 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Gro... |
ORPHA:98813 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Short stature, Atopic dermatitis, Membranous nephropathy, Coloni... |
OMIM:618999 |
| Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:2004 |
| Restrictive Dermopathy 2 |
|
Intrauterine growth retardation, Cyanosis |
OMIM:619793 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I... |
OMIM:301074 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Failure to thrive, Cyanosis |
ORPHA:91359 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly |
OMIM:603194 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Proteinuria, Osteoarthritis, Osteolysis, Hematuria, P... |
ORPHA:77259 |
| Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... |
ORPHA:2137 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Shigellosis |
|
Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Uveitis, B... |
ORPHA:810 |
| Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Short stature, Pallor, Decreased body weight |
OMIM:609053 |
| Sepsis In Premature Infants |
|
Cyanosis, Small for gestational age, Jaundice, Pallor, Decreased body weight, Petechiae, Purpura |
ORPHA:90051 |
| Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... |
ORPHA:1908 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... |
ORPHA:911 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Growth delay, Failure to thrive, Acrocyanosis |
OMIM:614407 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation |
OMIM:611134 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Small for gestational age, Anomalous pulmonary venous return, Hypoxemia, Failure to thrive |
ORPHA:860 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Failure to thrive, Cyanosis, Short stature |
ORPHA:3426 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Increased bone mineral density |
ORPHA:36913 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
| Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Death in childhood |
OMIM:246450 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... |
ORPHA:2686 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of renal excretion, Increased... |
ORPHA:289176 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Urticaria, Growth delay, Acrocyanosis, Purpura |
ORPHA:343 |
| Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Bronchitis, Respiratory tract infection, Pleural thickening, Pneumothorax, Bronchiectas... |
ORPHA:60025 |
| Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Small for gestational age, Anomalous pulmonary venous return, Hypoxemia, Intrauterine g... |
ORPHA:555874 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
| Immunodeficiency 97 With Autoinflammation |
|
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Colitis, Recurrent ot... |
OMIM:619802 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Short stature, Growth delay, Pulmonary artery hypoplasia, Delayed puberty |
ORPHA:2326 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... |
ORPHA:324964 |
| Hereditary Spherocytosis |
|
Growth delay, Jaundice, Pallor, Skin ulcer |
ORPHA:822 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Jaundice, Pallor |
ORPHA:90033 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
| Esophageal Atresia |
|
Recurrent respiratory infections, Cyanosis, Small for gestational age, Failure to thrive in infan... |
ORPHA:1199 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... |
ORPHA:793 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Increased body weight, Pallor, Large for gestational age |
ORPHA:263455 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Failure to thrive, Cyanosis |
ORPHA:444013 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
| Congenital Tracheomalacia |
|
Cyanosis, Pneumonia, Partial anomalous pulmonary venous return, Pneumothorax, Bronchiectasis, Rec... |
ORPHA:95430 |
| Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... |
ORPHA:763 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Jaundice, Skin ulcer, Growth delay, Pallor, Delayed puberty |
ORPHA:231226 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Increased bone mineral density, Calcium oxalate nephrolithias... |
OMIM:259900 |
| Pyoderma Gangrenosum |
|
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine |
ORPHA:48104 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis, Acrocyanosis |
ORPHA:896 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... |
ORPHA:67 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
| Letterer-Siwe Disease |
|
Jaundice, Pallor |
OMIM:246400 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
| Eosinophilic Fasciitis |
|
Acrocyanosis, Weight loss |
ORPHA:3165 |
| Aicardi-Goutieres Syndrome 1 |
|
Short stature, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Chronic diarrhea, Esophageal varix, Growth delay, Inflammation of the large intestine, Intrauteri... |
OMIM:614576 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Pyoderma gangrenosum, Macular purpura |
ORPHA:49566 |
| Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss, Pallor, Flushing |
ORPHA:276621 |
| Waldenström Macroglobulinemia |
|
Cutis marmorata, Urticaria, Pallor, Pleural effusion, Purpura |
ORPHA:33226 |
| Choanal Atresia |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:137914 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent upper and lower respiratory tract infections, Failure to thrive, Pallor |
ORPHA:331206 |
| Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of skull base, Sclerosis of foot bone, Hyperpigmentation of the... |
ORPHA:2905 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... |
ORPHA:94089 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, Hemothorax |
ORPHA:2038 |
| Camurati-Engelmann Disease |
|
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi... |
OMIM:131300 |
| Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Growth delay, Keratoconjunctivitis sicca, Colitis... |
ORPHA:309031 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Severe failure to thrive, Cyanosis |
ORPHA:3304 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Skin rash, Colitis, Decreased liver function, Erythroderma, Infectious e... |
ORPHA:540 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
| Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Joint stiffness |
ORPHA:902 |
| Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Hypospadias, Tarsal synostosis, Camptodactyly of finger, Ureteral... |
ORPHA:90652 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pleura morphology, Weight loss, Ur... |
ORPHA:183 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia |
OMIM:301220 |
| Beta-Thalassemia Major |
|
Failure to thrive in infancy, Jaundice, Skin ulcer, Growth delay, Pallor, Delayed puberty |
ORPHA:231214 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Distal renal tubular acidosis, Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis |
OMIM:259730 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Increased bone mineral density, Hypospadias, Epispadias, Cranial hyper... |
ORPHA:2658 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Short stature, Spina bifida |
ORPHA:1327 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Failure to thrive, Cyanosis, Aortopulmonary window, Pulmonary h... |
ORPHA:99050 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis... |
ORPHA:90038 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Cyanosis, Death in childhood, Recurrent lower respiratory tract infections, Fai... |
OMIM:618426 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Pallor, Weight loss |
ORPHA:35858 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:618476 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Inflammatory abnormality of the skin, Short stature, Eczema, Diarrhea, Esophagea... |
ORPHA:391487 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Jaundice, Pallor |
OMIM:194380 |
| Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Weight loss, Pallor, Hemosiderin-laden macrophages i... |
OMIM:233450 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... |
OMIM:619381 |
| Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Proteinuria, Recurrent fractures, Join... |
ORPHA:355 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy |
OMIM:222300 |
| Beta-Thalassemia Intermedia |
|
Jaundice, Pallor, Skin ulcer |
ORPHA:231222 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Generalized osteos... |
ORPHA:416 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis |
OMIM:259720 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Numero... |
ORPHA:33364 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
| Histiocytoid Cardiomyopathy |
|
Failure to thrive, Cyanosis, Pallor, Pulmonary edema |
ORPHA:137675 |
| Erdheim-Chester Disease |
|
Renal insufficiency, Increased bone mineral density, Osteomyelitis, Dysuria, Osteolysis, Hydronep... |
ORPHA:35687 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Urticaria, Weight loss, Pallor, Flushing |
ORPHA:98849 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... |
ORPHA:800 |
| Raine Syndrome |
|
Increased bone mineral density, Hydroureter, Subperiosteal bone formation, Arthrogryposis multipl... |
OMIM:259775 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux |
OMIM:201475 |
| Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Fountain Syndrome |
|
Erythema, Spina bifida occulta, Short stature, Spina bifida |
ORPHA:3219 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss, Pallor, Flushing |
ORPHA:29072 |
| Dermatomyositis |
|
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... |
ORPHA:221 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Growth delay, Hematochezia, Inflammation... |
OMIM:615895 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Failure to thrive in infancy |
ORPHA:488627 |
| Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Erythema, Pallor, Death in childhood, Failure to thrive |
OMIM:557000 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Pallor, Weight loss |
ORPHA:20 |
| Iga Pemphigus |
|
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
| Beta-Ketothiolase Deficiency |
|
Pallor, Weight loss |
ORPHA:134 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Short stature, Meningocele, Umbilical hernia, Spina bifida occulta, Intrauterine growth retardation |
ORPHA:2311 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Cyanosis, Recurrent pneumonia, Bronchiectasis, Growth delay, Pu... |
ORPHA:980 |
| Meckel Syndrome 14 |
|
Pneumothorax, Cyanosis, Pulmonary hypoplasia |
OMIM:619879 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Short stature, Hepatocellular carcinoma, Diarrhea, Enterocolitis, Gout, Hepatocellular adenoma, G... |
ORPHA:79259 |
| Triploidy |
|
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cutis marmorata, Angioedema, Urticaria, Vasculitis in the skin, Pulmonary fibrosis, Pallor, Pleur... |
ORPHA:3260 |
| Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:98914 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Aregenerative Anemia |
|
Bruising susceptibility, Pallor |
ORPHA:101096 |
| Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Partial anomalous pulmonary venous return |
OMIM:617478 |
| Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Pallor |
OMIM:606812 |
| Cerebrocostomandibular Syndrome |
|
Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth ... |
ORPHA:1393 |
| Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Bruising susceptibility, Short stature, Anemic pallor |
OMIM:600901 |
| Tarp Syndrome |
|
Intrauterine growth retardation, Failure to thrive, Cyanosis, Pulmonary hypoplasia |
ORPHA:2886 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor |
ORPHA:329971 |
| Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
| Syndromic Diarrhea |
|
Villous atrophy, Short stature, Hepatoblastoma, Gastritis, Bloody diarrhea, Colitis, Intractable ... |
ORPHA:84064 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Proteinuria, Osteolysis, Increased susceptibility to fractures, H... |
ORPHA:77261 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
| Familial Dysautonomia |
|
Growth delay, Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology |
ORPHA:1764 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
| Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Bruising susceptibility, Short stature, Anemic pallor |
OMIM:227650 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... |
OMIM:617718 |
| Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis interna, Low... |
ORPHA:79443 |
| Complete Atrioventricular Septal Defect |
|
Failure to thrive, Cyanosis, Recurrent pneumonia |
ORPHA:1329 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, Secretory... |
ORPHA:544482 |
| Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Short stature, Anemic pallor, Intrauterine growth retardation, Bruisin... |
OMIM:227645 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... |
ORPHA:29207 |
| Double Outlet Left Ventricle |
|
Failure to thrive, Pulmonary artery stenosis, Cyanosis |
ORPHA:3427 |
| Fucosidosis |
|
Failure to thrive, Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Incontinentia Pigmenti |
|
Erythema, Short stature, Pallor |
OMIM:308300 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Growth delay, Pallor, Bruising susce... |
ORPHA:667 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micropenis, Patchy osteosclerosis |
OMIM:241410 |
| Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Pulmonary artery dilatation, Cyanosis, Failure to thrive |
ORPHA:99106 |
| Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Pallor, Flushing |
ORPHA:2131 |
| Glycogen Storage Disease Ib |
|
Short stature, Hepatocellular carcinoma, Gout, Inflammation of the large intestine, Protuberant a... |
OMIM:232220 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
| Hyperlipoproteinemia, Type Id |
|
Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
| Thymoma |
|
Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis, Neoplasm of the gastroint... |
ORPHA:99867 |
| Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Increased bone mineral density, Low urinary cyclic AMP response to PTH admi... |
ORPHA:79444 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Growth delay, Acrocyanosis, Recurrent infections due to aspiration |
OMIM:223900 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... |
ORPHA:3243 |
| Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
| Sheehan Syndrome |
|
Dry skin, Pallor, Obesity |
ORPHA:91355 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... |
OMIM:619708 |
| Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
| Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Growth delay |
OMIM:614424 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... |
ORPHA:79474 |
| Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... |
ORPHA:2839 |
| Cocaine Intoxication |
|
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... |
ORPHA:90068 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis |
ORPHA:159 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Growth delay, Death in infancy, Failure to thrive, Cyanosis |
OMIM:252010 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Spina bifida |
ORPHA:1120 |
| Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones |
OMIM:127000 |
| Plague |
|
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... |
ORPHA:707 |
| Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Patchy osteosclerosis |
ORPHA:2323 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... |
ORPHA:63259 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Pulmonary edema |
ORPHA:31826 |
| Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... |
ORPHA:3261 |
| Diamond-Blackfan Anemia 1 |
|
Intrauterine growth retardation, Spina bifida occulta, Short stature, Pallor |
OMIM:105650 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... |
OMIM:618213 |
| Desmosterolosis |
|
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita |
OMIM:602398 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Short stature |
ORPHA:2031 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele, Scaling skin, Dry skin, Facial erythema |
ORPHA:1010 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Anomalous pulmonary venous return |
ORPHA:99104 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
| Congenital Tracheal Stenosis |
|
Cyanosis, Abnormal lung morphology, Abnormal lung lobation, Pulmonary artery atresia, Anomalous o... |
ORPHA:141127 |
| Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
| Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pleural effusion, Cyanosis, Pulmonary edema |
OMIM:261740 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Abdominal pain, C... |
ORPHA:171 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Secretory diarrhea, Cleft palate,... |
OMIM:619573 |
| Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Pallor, Neoplasm of the lung |
ORPHA:653 |
| Glycogen Storage Disease Ic |
|
Stomatitis, Chronic pancreatitis, Hepatocellular carcinoma, Gout, Inflammation of the large intes... |
OMIM:232240 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
| Degcags Syndrome |
|
Small for gestational age, Pneumonia, Premature graying of hair, Pallor, Intrauterine growth reta... |
OMIM:619488 |
| Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Hydrocephalus, Anemic pallor, Short stature |
OMIM:227646 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca... |
OMIM:187300 |
| Lateral Meningocele Syndrome |
|
Short stature, Patent ductus arteriosus, Hydrocephalus, Meningocele, Umbilical hernia |
OMIM:130720 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Nephrocalcinosis, Vesicoureteral reflux, Pelvic kidney, Joint la... |
ORPHA:904 |
| Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Keratitis, Hematemesis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio... |
ORPHA:906 |
| Pitt-Hopkins Syndrome |
|
Growth delay, Postnatal growth retardation, Failure to thrive, Acrocyanosis |
ORPHA:2896 |
| Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Weight loss, Vasculitis in the skin, Acrocyanosis, ... |
ORPHA:48435 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
| Diamond-Blackfan Anemia |
|
Growth delay, Short stature, Pallor, Small for gestational age |
ORPHA:124 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Short stature, Recurrent upper respiratory tract infections, Obesity, Delayed puberty, ... |
ORPHA:293987 |
| Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... |
OMIM:617137 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Bilateral trilobed lung, Failure to thrive, Cyanosis, Total anomalous pulmonary venous return |
OMIM:306955 |
| Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Pulmonary arteriovenous malformation, Lip telangiectasia, ... |
OMIM:610655 |
| Tsh-Secreting Pituitary Adenoma |
|
Weight loss, Pallor, Delayed puberty |
ORPHA:91347 |
| Wiskott-Aldrich Syndrome |
|
Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pneumonia, Ulcerative colitis, Melena,... |
OMIM:301000 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms |
OMIM:244400 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Redundant neck skin, Short stature, Rhizomelic leg shortening, Meningoce... |
ORPHA:397715 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Pulmonary arteriovenous malformat... |
OMIM:600376 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida |
ORPHA:3412 |
| Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Lack of skin elasticity, Spina bifida |
ORPHA:2671 |
| Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele |
ORPHA:2789 |
| Trisomy 18 |
|
Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosencephaly, Intrauterine growth re... |
ORPHA:3380 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Lack of skin elasticity, Weight loss, Premature sk... |
ORPHA:740 |
| Unilateral Polymicrogyria |
|
Cyanosis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
| Mosaic Trisomy 9 |
|
Intrauterine growth retardation, Patent ductus arteriosus, Spina bifida |
ORPHA:99776 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Pneumonia |
ORPHA:99103 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Cyanosis, Pulmonary artery stenosis, Supracardiac total anomalo... |
ORPHA:99125 |
| X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Increased density of long bones, Thickened cortex of... |
OMIM:269150 |
| Trisomy 20P |
|
Umbilical hernia, Spina bifida |
ORPHA:261318 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Short stature, Postnatal growth retardation, High, narrow palate, Celiac disease, Thyroiditis, Ga... |
ORPHA:99413 |
| Turner Syndrome |
|
Short stature, Postnatal growth retardation, High, narrow palate, Celiac disease, Thyroiditis, Ga... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Short stature, Postnatal growth retardation, High, narrow palate, Celiac disease, Thyroiditis, Ga... |
ORPHA:99228 |
| Monosomy X |
|
Short stature, Postnatal growth retardation, High, narrow palate, Celiac disease, Thyroiditis, Ga... |
ORPHA:99226 |
| Myasthenia Gravis |
|
Acrocyanosis |
ORPHA:589 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Os... |
ORPHA:2785 |
| Aicardi-Goutières Syndrome |
|
Cutis marmorata, Short stature, Acrocyanosis, Prolonged neonatal jaundice, Dry skin |
ORPHA:51 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
| Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Focal Dermal Hypoplasia |
|
Umbilical hernia, Patent ductus arteriosus, Erythema, Spina bifida |
ORPHA:2092 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
| Lathosterolosis |
|
Intrauterine growth retardation, Meningocele |
ORPHA:46059 |
| Hallermann-Streiff Syndrome |
|
Proportionate short stature, Dry skin, Spina bifida |
OMIM:234100 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Pallor |
OMIM:253280 |
| Pagod Syndrome |
|
Encephalocele, Meningocele, Short stature, Spina bifida |
ORPHA:991 |
| Nail-Patella Syndrome |
|
Short stature, Spina bifida |
OMIM:161200 |
| Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Disproportionate short stature, Meningocele |
ORPHA:2879 |
| Coffin-Lowry Syndrome |
|
Cutis marmorata, Short stature, Cutis laxa, Decreased body weight, Acrocyanosis |
OMIM:303600 |
| 22Q11.2 Deletion Syndrome |
|
Short stature, Spina bifida, Hydrocephalus, Meningocele, Patent ductus arteriosus, Occipital myel... |
ORPHA:567 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
| Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
| Von Hippel-Lindau Disease |
|
Pallor |
ORPHA:892 |
| Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine,... |
OMIM:181000 |
| Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
| Aortic Arch Interruption |
|
Cyanosis, Aortopulmonary window |
ORPHA:2299 |
| Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
| Neu-Laxova Syndrome 1 |
|
Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical cord, Small placenta, Neonata... |
OMIM:256520 |
| Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Penetr... |
ORPHA:573278 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Failure to thrive, Cyanosis |
ORPHA:216694 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Anencephaly |
OMIM:616546 |
| Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
| Classical Ehlers-Danlos Syndrome |
|
Striae distensae, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Frag... |
ORPHA:287 |
| Fanconi Anemia |
|
Short stature, Spina bifida, Patent ductus arteriosus, Hydrocephalus, Growth delay, Umbilical her... |
ORPHA:84 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
| Jacobsen Syndrome |
|
Growth delay, Intrauterine growth retardation, Short stature, Spina bifida |
ORPHA:2308 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida |
OMIM:162200 |
| Eisenmenger Syndrome |
|
Hypoxemia, Cyanosis, Aortopulmonary window |
ORPHA:97214 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Spina bifida, Postnatal growth retardation, Patent ductus arteriosus, Pa... |
OMIM:192350 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Truncus arteriosus, Short stature, Spina bifida |
ORPHA:508498 |
| Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Short stature |
OMIM:277170 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Osteomyelitis |
ORPHA:70591 |
| Mowat-Wilson Syndrome |
|
Short stature, Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Ga... |
ORPHA:2152 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Patent ductus arteriosus, Short stature, Spina bifida |
OMIM:274000 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
| Campomelic Dysplasia |
|
Spina bifida, Hydrocephalus, Spinal dysraphism, Disproportionate short-limb short stature, Neonat... |
OMIM:114290 |
| Aicardi Syndrome |
|
Postnatal growth retardation, Spina bifida |
OMIM:304050 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Postnatal growth retardation, Hydrocephalus, Spina bifida |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Spina bifida |
ORPHA:363958 |
| Rubinstein-Taybi Syndrome 1 |
|
Short stature, Spina bifida, Postnatal growth retardation, Patent ductus arteriosus, Growth delay... |
OMIM:180849 |
| Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
| Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypogonadism |
OMIM:163950 |
| Marfan Syndrome |
|
Meningocele, Striae distensae |
ORPHA:558 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Spina bifida |
OMIM:619480 |
| Generalized Arterial Calcification Of Infancy |
|
Cyanosis, Failure to thrive in infancy |
ORPHA:51608 |
| Arima Syndrome |
|
Growth delay, Occipital meningocele |
OMIM:243910 |
| Otopalatodigital Syndrome, Type Ii |
|
Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth, Umbilical h... |
OMIM:304120 |
| Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis |
ORPHA:285 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Disproportionate short stature |
OMIM:276820 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Short stature |
OMIM:617260 |
