| Gombo Syndrome |
|
Microphthalmia, Microcephaly, Radial deviation of finger, Clinodactyly, Brachydactyly |
OMIM:233270 |
| Griscelli Syndrome, Type 3 |
|
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair |
OMIM:609227 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... |
ORPHA:93403 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Polydactyly, Preaxial Ii |
|
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... |
OMIM:174500 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... |
OMIM:186000 |
| Polydactyly, Postaxial, Type A1 |
|
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... |
OMIM:174200 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Macrocephaly, Polymicrogyria, Hydrocephalus, Syndactyly, Megalencephaly, Thick corpus callosum, P... |
OMIM:615938 |
| Syndactyly, Type Iv |
|
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... |
OMIM:186200 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... |
OMIM:214450 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Short distal phalanx of hallux, Macrocephaly, Small thenar eminence, Aplasia/Hypoplasia of the di... |
ORPHA:3246 |
| Syndactyly Type 1 |
|
Toe syndactyly, Finger syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
| Syndactyly, Type Iii |
|
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger |
OMIM:186100 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Red hair, Albinism |
OMIM:203290 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Sea-Blue Histiocytosis |
|
Blepharitis, Sea-blue histiocytosis, Hyperpigmentation of the skin, Hypopigmentation of the skin,... |
ORPHA:158029 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Clouston Syndrome |
|
Cataract, Nail dysplasia, Onycholysis, Absent axillary hair, Fine hair, Brittle hair, Blepharitis... |
OMIM:129500 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... |
ORPHA:3269 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Downslanted palpebral fissures, Persistence of hemoglobin F, Macrocytic anemia, Increased mean co... |
OMIM:300946 |
| Brachydactyly, Type C |
|
Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ... |
OMIM:113100 |
| Tietz Syndrome |
|
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Abnormality of the upper limb, Bilateral single ... |
ORPHA:1891 |
| Nevus Comedonicus Syndrome |
|
Spina bifida, Preaxial polydactyly, Finger syndactyly, Toe syndactyly, Spina bifida occulta, Micr... |
ORPHA:64754 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly |
OMIM:607539 |
| Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... |
OMIM:174700 |
| Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
| Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microcephaly, Microphthalmia |
OMIM:616335 |
| Flotch Syndrome |
|
Abnormal eyelash morphology, Blepharitis, Inflammatory abnormality of the eye, Abnormal eyelid mo... |
ORPHA:2045 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
| Uncombable Hair Syndrome |
|
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia |
ORPHA:1410 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin, Anemia |
OMIM:617409 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia, Growth delay, Developmental ca... |
OMIM:601815 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Poikiloderma With Neutropenia |
|
Leukopenia, Skin rash, Reticular hyperpigmentation, Low posterior hairline, Blepharitis, Short st... |
OMIM:604173 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Polydactyly, Occipital encephalocele, Microphthalmia, Microcephaly, Talipes equino... |
OMIM:613885 |
| Wolfram Syndrome 1 |
|
Cataract, Testicular atrophy, Megaloblastic anemia, Diabetes mellitus, Pigmentary retinopathy, Di... |
OMIM:222300 |
| Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Microcephaly |
OMIM:241000 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Short stature, Thrombocytopenia, Melanocytic nevus |
ORPHA:3319 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Spina bifida, Finger syndactyly, Synosto... |
ORPHA:957 |
| Bone Marrow Failure Syndrome 3 |
|
Epicanthus, Pancreatic steatosis, Nail dystrophy, Sparse hair, Hyperechogenic pancreas, Acute mye... |
OMIM:617052 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Anemia, Skin rash, Thrombocytopenia, Lymphadenopathy, Conjunctivitis, Splenomeg... |
OMIM:603552 |
| Mmep Syndrome |
|
Triphalangeal thumb, Microcephaly, Microphthalmia, Split foot |
ORPHA:3434 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Jawad Syndrome |
|
Primary microcephaly, Hallux valgus, Postaxial polydactyly, Short middle phalanx of the 5th finge... |
OMIM:251255 |
| Dilution, Pigmentary |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
OMIM:126070 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... |
ORPHA:93406 |
| Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
| Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Anophthalmia, Microphthalmia |
OMIM:600776 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
| Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
| Amed Syndrome, Digenic |
|
Adrenal hypoplasia, Leukopenia, Anemia, Bone marrow hypocellularity, Attention deficit hyperactiv... |
OMIM:619151 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility, Cataract, Abnormality of skin pigmentation |
OMIM:300719 |
| Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Pigment gallstones, Hypochromic anemia, Persiste... |
ORPHA:232 |
| Birk-Aharoni Syndrome |
|
Cryptorchidism, Thick eyebrow, Macrocytic anemia, Micropenis |
OMIM:620071 |
| Wahab Syndrome |
|
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... |
OMIM:615170 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Duplication of metatarsal bones, Syndactyly, Microcephaly, Cutaneous finger syndactyly, Aplasia/H... |
OMIM:600384 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Rocker bottom foot, Microcephaly, Cerebellar hypoplasia, Talipes equinovarus, Age... |
OMIM:616570 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Orbital encephalocele, Anophthalmia, Dandy-Walker malformation, Micro... |
OMIM:164180 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Anemia, Chronic oral candidiasis, Conjunctivitis, Neutropenia |
OMIM:616740 |
| Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop... |
OMIM:619041 |
| Syndactyly Type 4 |
|
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... |
ORPHA:93405 |
| Santos Syndrome |
|
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... |
OMIM:613005 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Bone marrow hypocellularity, Macrocyti... |
ORPHA:86841 |
| Dyskeratosis Congenita |
|
Abnormal morphology of female internal genitalia, Abnormal eyebrow morphology, Diabetes mellitus,... |
ORPHA:1775 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse body hair, Anonychia, Hyperconvex nail, Patchy alopecia, Micropenis, Supernumerary nipple,... |
OMIM:106260 |
| Acalvaria |
|
Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Aplasia/Hypoplasia of... |
ORPHA:945 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... |
OMIM:617780 |
| Dyskeratosis Congenita, X-Linked |
|
Pterygium of nails, Nail dystrophy, Acute myeloid leukemia, Reticulated skin pigmentation, Crypto... |
OMIM:305000 |
| X-Linked Agammaglobulinemia |
|
Chronic otitis media, Recurrent cutaneous abscess formation, Anemia, Hypopigmented skin patches, ... |
ORPHA:47 |
| Acropectorovertebral Dysplasia |
|
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... |
OMIM:102510 |
| Deafness, Congenital, With Total Albinism |
|
Albinism, Hypogonadism |
OMIM:220900 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Piebaldism |
|
Piebaldism, Synophrys, Hypopigmented skin patches, White eyelashes, Hypopigmentation of hair, Whi... |
ORPHA:2884 |
| Diamond-Blackfan Anemia 8 |
|
Short stature, Macrocytic anemia, Increased mean corpuscular volume, Growth delay, Neutropenia |
OMIM:612563 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger |
ORPHA:71289 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1074 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Primary microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Dysgenesis o... |
OMIM:615771 |
| Frontal Encephalocele |
|
Encephalocele, Macrocephaly, Hydrocephalus, Spina bifida, Cerebral calcification, Aplasia/Hypopla... |
ORPHA:1931 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Anemia, Decreased mean corpuscular volume, Hypochromia, Cafe-au-lait spot, Azoosper... |
OMIM:615234 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... |
ORPHA:1892 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Non-caseating epithelioid cell granulomatosis, Keratoconjunctivitis sicca, Macrocytic an... |
ORPHA:227990 |
| Congenital Ptosis |
|
Congenital fibrosis of extraocular muscles, Premature ovarian insufficiency, Long eyelashes, Cong... |
ORPHA:91411 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Keratitis, Ectropion, Blepharitis, Sparse eyebrow, Sparse eyelashes, Conjunctivitis, Folliculitis |
OMIM:308800 |
| Ulnar Hemimelia |
|
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... |
ORPHA:93320 |
| Tularemia |
|
Leukocytosis, Cervical lymphadenopathy, Anemia, Skin rash, Conjunctival hyperemia, Inflammatory a... |
ORPHA:3392 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Dermatoglyphic ridges abnormal, Camptodactyly, Small thenar eminence, Spina bifida, Small hypothe... |
OMIM:211960 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Non-caseating epithelioid cell granulomatosis, Keratoconjunctivitis sicca, Macrocytic an... |
ORPHA:227982 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... |
OMIM:605289 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Nail pits, Leukopenia, Ridged nail, Aplastic anemia, Anemia, Premature graying of hair, Reticular... |
OMIM:127550 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Keratitis, Nail dysplasia, Blepharitis, Alopecia, Sparse eyebrow, Scarring alopecia of ... |
OMIM:612843 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Brachydactyly, Type A2 |
|
Medially deviated second toe, Hallux valgus, Aplasia/Hypoplasia of the middle phalanx of the 2nd ... |
OMIM:112600 |
| Brachydactyly Type A7 |
|
Medially deviated second toe, Broad distal phalanx of the thumb, Hallux valgus, Short middle phal... |
ORPHA:93397 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism |
OMIM:606952 |
| Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Proximal placement of thumb, F... |
ORPHA:139471 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype... |
OMIM:261000 |
| Liebenberg Syndrome |
|
2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal... |
OMIM:186550 |
| Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... |
ORPHA:998 |
| Atopic Keratoconjunctivitis |
|
Chemosis, Keratoconjunctivitis sicca, Loss of eyelashes, Blepharitis, Abnormal eyelid morphology,... |
ORPHA:163934 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
| Lichen Planus Pemphigoides |
|
Abnormality of the nail, Blepharitis, Hypopigmented streaks, Conjunctivitis |
ORPHA:254478 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Colitis, B lymphocytopenia, Hypothyroidism, Erythema nodosum, Recurrent pneumonia, Thrombocytopen... |
OMIM:614700 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Short stature, Delayed puberty, Blepharitis, Psoriasiform dermatitis |
OMIM:616834 |
| Van Der Woude Syndrome 1 |
|
Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit |
OMIM:119300 |
| Humero-Radial Synostosis |
|
Elbow ankylosis, Meningocele, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Microcep... |
ORPHA:3265 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Piebald Trait |
|
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... |
OMIM:172800 |
| Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Postaxial foot polydactyly, 2-3 toe cutaneous syndactyly, Hip dislocation, Met... |
OMIM:206920 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brac... |
OMIM:610140 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Lymphopenia, Increased mean cor... |
OMIM:618849 |
| Diamond-Blackfan Anemia 13 |
|
Elevated red cell adenosine deaminase level, Normocytic anemia |
OMIM:615909 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Short stature, Neutropenia |
ORPHA:90023 |
| Waardenburg Syndrome, Type 2F |
|
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... |
OMIM:619947 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Epicanthus, Downslanted palpebral fissures, Low posterior hairline, Short stature, Macrocytic ane... |
OMIM:606164 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
| Cartilage-Hair Hypoplasia |
|
Sparse facial hair, Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Fine hair... |
OMIM:250250 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... |
ORPHA:157801 |
| Microcephaly-Cardiomyopathy |
|
Sandal gap, Microcephaly, Dilated cardiomyopathy, Clinodactyly of the 5th finger |
OMIM:251220 |
| Olmsted Syndrome, X-Linked |
|
Blepharitis, Posterior blepharitis |
OMIM:300918 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Growth delay |
OMIM:243320 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
White forelock, Macular hyperpigmented dermopathy |
ORPHA:2779 |
| Brachydactyly-Syndactyly Syndrome |
|
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Woolly Hair |
|
Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S... |
ORPHA:170 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Radioulnar synostosis, Microcephaly, Clinodactyly of... |
ORPHA:3268 |
| Candidiasis, Familial, 8 |
|
Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis |
OMIM:615527 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Curly eyelashes, Curly hair, Brittle hair, Blepharitis, Sparse eyebrow, Corneal... |
OMIM:602400 |
| Adams-Oliver Syndrome 4 |
|
Umbilical hernia, Microphthalmia, Aplasia of the middle phalanx of the 4th toe, Short toe, Absent... |
OMIM:615297 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Shawl scrotum, Megaloblastic anemia, Abnormal erythrocyte morphology, Folate-unresponsive megalob... |
ORPHA:2575 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly |
OMIM:213010 |
| Greig Cephalopolysyndactyly Syndrome |
|
Macrocephaly, Postaxial foot polydactyly, Hydrocephalus, Umbilical hernia, Finger syndactyly, Pre... |
ORPHA:380 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Postaxial foot polydactyly, Short distal phalanx of finger, Abnormal met... |
ORPHA:1113 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Syndactyly, Polydactyly, Upper limb phocomelia |
ORPHA:294975 |
| Atelis Syndrome 1 |
|
Cataract, Leukopenia, Irregular hyperpigmentation, Anemia, Downslanted palpebral fissures, Attent... |
OMIM:620184 |
| Fibular Hemimelia |
|
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... |
ORPHA:93323 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe, 1-2 toe complete cutaneous syndactyly, A... |
ORPHA:488232 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Intrauter... |
ORPHA:2133 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Leukemia, Multiple cafe-au-lait spots, Thrombocytopenia, Growth delay, Neutropenia |
OMIM:614082 |
| Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Finger syndactyly |
ORPHA:1114 |
| Hidrotic Ectodermal Dysplasia |
|
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... |
ORPHA:189 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Overlapping fingers, Overlapping toe, Hallux varus, ... |
OMIM:618167 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Ptosis, Splenomegaly, Macrocytic anemia, Agitation |
OMIM:619046 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Syndactyly, Microphthalmia, Brachydactyly |
OMIM:610023 |
| 15Q11Q13 Microduplication Syndrome |
|
Macrocephaly, Finger syndactyly, Clinodactyly of the 5th finger |
ORPHA:238446 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4... |
OMIM:186300 |
| Juvenile Temporal Arteritis |
|
Allergic rhinitis, Conjunctivitis, Leukocytosis, Eosinophilia |
ORPHA:26137 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Cataract, Hypogonadism, Diabetes mellitus, Macrocytic anemia, Dysphagia, Hypothyroidism, Ptosis |
ORPHA:98673 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Short stature, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia, Hypospadias |
OMIM:612528 |
| Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
| Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia, Microphthalmia, Lissencephaly, Micro... |
ORPHA:1528 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Arthritis, Purulent rhinitis, B lymphocytopenia, Pneumonia, Conjunctivitis, Otitis media, T lymph... |
OMIM:601457 |
| Wt Limb-Blood Syndrome |
|
Cryptorchidism, Irregular hyperpigmentation, Leukemia, Hypoplastic anemia, Thrombocytopenia, Panc... |
OMIM:194350 |
| Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Growth delay |
OMIM:229100 |
| Wiskott-Aldrich Syndrome |
|
Chronic otitis media, Hemolytic anemia, Abnormality of the menstrual cycle, Abnormal platelet fun... |
ORPHA:906 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
| Ermine Phenotype |
|
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow |
OMIM:227010 |
| Split-Hand/Foot Malformation 6 |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hand oligodactyly, Split hand, Split foot |
OMIM:225300 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... |
ORPHA:75564 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate |
OMIM:119540 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Diabetes mellitus, Diabetes insipidus, Sideroblastic anemia, Thrombocytopen... |
OMIM:598500 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, Pancytopenia, Type I diabetes mellitus, T-cell acute lymphobla... |
OMIM:620044 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse body hair, Blepharitis, Slow-growing hair, Sparse hair, Sparse eyelashes, Eczema, Sparse s... |
OMIM:618535 |
| Xeroderma Pigmentosum |
|
Cataract, Freckling, Cryptorchidism, Decreased testicular size, Hypogonadism, Hypopigmented skin ... |
ORPHA:910 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Melanin pigment aggregation in ha... |
OMIM:607624 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Polydactyly, Meningocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly,... |
OMIM:603194 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Pancreatitis, Macrocytic anemia, Thrombocytopenia |
ORPHA:27 |
| Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Absent septum pellucidum, Microphthalmia, Optic nerve hypoplasia, Lissence... |
OMIM:218670 |
| Split-Hand/Foot Malformation 1 |
|
Foot oligodactyly, Ectrodactyly, Syndactyly, Broad hallux, Clinodactyly, Triphalangeal thumb, Han... |
OMIM:183600 |
| Celiac Disease, Susceptibility To, 1 |
|
Delayed puberty, Iron deficiency anemia, Stomatitis, Recurrent aphthous stomatitis, Eczema, Alope... |
OMIM:212750 |
| Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Microphthalmia, Anencep... |
OMIM:611134 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Anisopoikilocytosis, Hypogonadism, Anemia, Decreased mean corpuscular volume,... |
ORPHA:300298 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Conjunctivitis, Recurrent otitis media, Re... |
OMIM:613493 |
| Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Agenesis of cerebellar vermis, Temporal cortical atrophy, Microphthal... |
OMIM:615665 |
| 16Q24.3 Microdeletion Syndrome |
|
Chronic otitis media, Cryptorchidism, Astigmatism, Upslanted palpebral fissure, Increased mean co... |
ORPHA:261250 |
| Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand ... |
OMIM:611561 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Majeed Syndrome |
|
Hepatosplenomegaly, Delayed puberty, Inflammatory abnormality of the skin, Skin rash, Decreased m... |
OMIM:609628 |
| Diamond-Blackfan Anemia 4 |
|
Short stature, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia, Growth delay, Neutropenia |
OMIM:612527 |
| Congenital Varicella Syndrome |
|
Cerebral cortical atrophy, Microcephaly, Microphthalmia |
ORPHA:291 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Zika Virus Disease |
|
Maculopapular exanthema, Iris coloboma, Skin rash, Retinal pigment epithelial mottling, Intrauter... |
ORPHA:448237 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Spina bifida, Anencephaly |
ORPHA:2476 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Muckle-Wells Syndrome |
|
Maculopapular exanthema, Leukocytosis, Recurrent aphthous stomatitis, Short stature, Conjunctival... |
OMIM:191900 |
| Anemia, Sideroblastic, 1 |
|
Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... |
ORPHA:3202 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, B lymphocytopenia, Conjunctivitis... |
OMIM:612692 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Extramedullary hematopoiesis, Anemia, Intrauterine growth retardation, Increased mean corpuscular... |
OMIM:617021 |
| Muckle-Wells Syndrome |
|
Delayed puberty, Anemia, Recurrent aphthous stomatitis, Skin rash, Uveitis, Short stature, Arthri... |
ORPHA:575 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cryptorchidism, Diabetes mellitus, Short stature, Sideroblastic anemia, Thrombocytopenia, Thiamin... |
OMIM:249270 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia |
OMIM:613839 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... |
OMIM:616689 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Thrombocytopenia, Short stature, Megaloblastic anemia |
ORPHA:49827 |
| Congenital Erythropoietic Porphyria |
|
Keratoconjunctivitis, Anisocytosis, Seborrhoeic blepharitis, Reticulocytosis, Facial hypertrichos... |
ORPHA:79277 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia universalis, Asplenia, Chronic active hepatitis, Hypoparathyroidism, Pigmentary retinopa... |
OMIM:240300 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism, Long proximal phalanx of finger, Congenital hip dislocation, Slender distal ph... |
OMIM:603546 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Hypotrichosis 8 |
|
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... |
OMIM:278150 |
| Lissencephaly 8 |
|
Type II lissencephaly, Polymicrogyria, Occipital encephalocele, Microphthalmia, Hypoplasia of the... |
OMIM:617255 |
| Orofacial Cleft 13 |
|
Cleft soft palate, Oligodontia |
OMIM:613857 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polymicrogyria, Polydactyly, Hydrocephalus, Syndactyly, Microphthalmia, Megalencephaly, Progressi... |
OMIM:602501 |
| Chromosome 15Q25 Deletion Syndrome |
|
Cryptorchidism, Hyperactivity, Synophrys, Downslanted palpebral fissures, Attention deficit hyper... |
OMIM:614294 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Reticulocytosis, Anemia, Short stature, Anemia of inadequate production, Small nail... |
OMIM:615631 |
| Ifap Syndrome 2 |
|
Cataract, Keratoconjunctivitis sicca, Posterior blepharitis, Angular cheilitis, Nail dystrophy, S... |
OMIM:619016 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Hepatoerythropoietic Porphyria |
|
Keratoconjunctivitis, Seborrhoeic blepharitis, Corneal ulceration, Facial hypertrichosis, Hemolyt... |
ORPHA:95159 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
3-4 finger syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypopl... |
OMIM:609432 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Prominent protruding coccyx, Bilateral microphthalmos, Hydranencephaly, ... |
ORPHA:2839 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Macrocephaly, Cerebral atrophy, Spindle-shaped finger, Cutaneous syndactyly, Delayed epiphyseal o... |
ORPHA:166024 |
| Eec Syndrome |
|
Hypoplasia of the thymus, Nail pits, Generalized hypopigmentation, Entropion, Fine hair, Corneal ... |
ORPHA:1896 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Macrothrombocytopenia, Anisocytosis, Cryptorchidism, Hypochromic anemia, Anemia of inadequate pro... |
ORPHA:67044 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... |
ORPHA:35858 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... |
ORPHA:93383 |
| 2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Bullet-shaped distal phalanx of the hallux, Microphthalmia, Long fingers... |
ORPHA:1617 |
| Hydrolethalus |
|
Hydrocephalus, Absent septum pellucidum, Microphthalmia, Anencephaly, Postaxial hand polydactyly,... |
ORPHA:2189 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Focal cortical dysplasia, Hydrocephalus, Cardiomyopathy, Microphthalmia, Abnormal left ventricula... |
OMIM:613155 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Corneal scarring, Loss of eyelashes, Alopecia, Short stature, Hyperpigmentation... |
OMIM:263700 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Seckel Syndrome 2 |
|
Microphthalmia, Microcephaly, Cerebellar hypoplasia, Heart murmur, Clinodactyly of the 5th finger |
OMIM:606744 |
| Septooptic Dysplasia |
|
Short finger, Optic disc hypoplasia, Polydactyly, Absent septum pellucidum, Optic nerve hypoplasi... |
OMIM:182230 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Cataract, Nail dysplasia, Nail dystrophy, Anemia, Corneal scarring, Alopecia, Dysphagia, Growth d... |
OMIM:226600 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism, Pure red cell aplasia, Anemia, Reticular hyperpigmentation, Sho... |
OMIM:618165 |
| Waardenburg Syndrome, Type 4B |
|
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:613265 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o... |
ORPHA:91349 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Growth delay |
OMIM:612561 |
| Cleft Lip With Or Without Cleft Palate |
|
Median cleft lip and palate, Median cleft lip, Non-midline cleft lip, Non-midline cleft palate, S... |
ORPHA:1991 |
| Diamond-Blackfan Anemia |
|
Epicanthus, Acute myeloid leukemia, Leukopenia, Pure red cell aplasia, Low anterior hairline, Mac... |
ORPHA:124 |
| Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia |
ORPHA:51208 |
| Limb-Mammary Syndrome |
|
Freckling, Nail dysplasia, Primary amenorrhea, Hypoplastic nipples, Lacrimal duct atresia, Absent... |
ORPHA:69085 |
| Methylcobalamin Deficiency Type Cble |
|
Intrauterine growth retardation, Macrocytic anemia, Increased mean corpuscular volume, Pancytopen... |
ORPHA:2169 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Recurrent otitis ... |
OMIM:619774 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot |
OMIM:313350 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... |
ORPHA:140908 |
| Late-Onset Isolated Acth Deficiency |
|
Graves disease, Premature ovarian insufficiency, Vitiligo, Adrenocorticotropin deficient adrenal ... |
ORPHA:199299 |
| Bardet-Biedl Syndrome 22 |
|
Macrocephaly, Postaxial foot polydactyly, Microcephaly, Polydactyly |
OMIM:617119 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth |
OMIM:216300 |
| White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
| Griscelli Syndrome |
|
Iris hypopigmentation, Abnormal eyelash morphology, Leukopenia, Abnormal eyebrow morphology, Hypo... |
ORPHA:381 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Cheilitis, Corneal erosion, Abnormality of the nail, Bl... |
ORPHA:37 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Camptodactyly of finger, Hallux valgus, Spina bifida, Scapular wi... |
ORPHA:1327 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Hypersegmentation of neutrophil nuclei, Intrauterine growth retardation, Macrocytic anemia |
OMIM:615578 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, 4-5 toe syndactyly, 1-2 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Czeizel-Losonci Syndrome |
|
2-3 finger syndactyly, 3-4 finger syndactyly, Hydrocephalus, Spina bifida, Myelomeningocele, Ectr... |
ORPHA:2437 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Cerebellar hypoplasia, Microphthalmia, Hydrocephalus |
OMIM:614830 |
| Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Recurrent pneumonia, Recurrent otitis media, Lymphadenopathy, Bronchiecta... |
OMIM:240500 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebral atrophy, Partial agenesis of the corpus callosum, Hypoplasia of the pons, Simplified gyr... |
OMIM:616171 |
| Kid Syndrome |
|
Onychogryposis, Keratoconjunctivitis sicca, Trichilemmoma, Punctate keratitis, Sparse eyebrow, Na... |
ORPHA:477 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Anonychia, Anemia, Growth delay, Scarring alopecia of scalp, Nail dystrophy, Ab... |
ORPHA:79402 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Synpolydactyly 2 |
|
Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
| Shwachman-Diamond Syndrome |
|
Hypopituitarism, Diabetes mellitus, Macrocytic anemia, Acute myeloid leukemia, Pancreatic hypopla... |
ORPHA:811 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Abnormal hemoglobin, Anemia, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis, Skin rash, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly |
OMIM:605967 |
| Bardet-Biedl Syndrome 7 |
|
Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly |
OMIM:615984 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Ery... |
OMIM:224120 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia, Ambiguous genitalia |
OMIM:209970 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macr... |
OMIM:300835 |
| Juvenile Xanthogranuloma |
|
Myeloproliferative disorder, Uveitis, Blepharitis, Iritis, Multiple cafe-au-lait spots, Asymmetry... |
ORPHA:158000 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Microphthalmia, Toe syndactyly, Broad thumb, Abnormality of thumb phalanx, Pre... |
ORPHA:1553 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
1-4 finger syndactyly, Camptodactyly, 2-3 finger syndactyly, 3-4 finger syndactyly, 2-4 finger sy... |
OMIM:225280 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
| Microphthalmia, Isolated 8 |
|
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Microcephaly, Microphthalmia |
ORPHA:3469 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Infantile Liver Failure Syndrome 1 |
|
Macrocytic anemia, Anemia |
OMIM:615438 |
| Onychotrichodysplasia And Neutropenia |
|
Curly eyelashes, Trichorrhexis nodosa, Curly hair, Chronic neutropenia, Short eyelashes, Concave ... |
OMIM:258360 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft upper lip, Cleft palate |
OMIM:137215 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Erythroderma, Pustule |
OMIM:614328 |
| Hartsfield Syndrome |
|
Encephalocele, Lobar holoprosencephaly, Microphthalmia, Aplasia/Hypoplasia of the corpus callosum... |
ORPHA:2117 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hypoplastic nipples, Sparse eyebrow, Nail dystrophy, Facial hirsutism, Blepharophimosis, Absence ... |
OMIM:604292 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Short stature |
ORPHA:2760 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Stillbirth, Multiple unerupted teeth, Crowded maxillary incisors |
OMIM:183300 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Hallux valgus, Toe syndactyly, Short middle phalanx of the 5th finger, Sh... |
ORPHA:93409 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Chronic otitis media, Long eyelashes, Shawl scrotum, Epicanthus, Blepharitis, Intrauterine growth... |
ORPHA:261279 |
| Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Lymphadenopathy, Arthritis |
OMIM:617772 |
| Moebius Syndrome |
|
Epicanthus, Blepharitis, Breast aplasia, Dysphagia, Multiple cafe-au-lait spots, Corneal opacity,... |
ORPHA:570 |
| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency |
OMIM:617732 |
| Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Delayed puberty, Hypopituitarism, Anisocytosis, Extramedullary hematopoiesis,... |
ORPHA:231226 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Reticulated skin pigmentation, Testicular atrophy, Nail dystrophy, Bone marrow hypocellularity, T... |
OMIM:613987 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Short stature, Increased mean corpuscular ... |
ORPHA:98870 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Thrombocytopenia, Anemia, Menorrhagia |
OMIM:616176 |
| Cockayne Syndrome Type 2 |
|
Cryptorchidism, Hypermelanotic macule, Uveitis, Intrauterine growth retardation, Developmental ca... |
ORPHA:90322 |
| Proteus Syndrome |
|
Downslanted palpebral fissures, Depigmentation/hyperpigmentation of skin, Limbal dermoid, Splenom... |
OMIM:176920 |
| Hyperlysinemia, Type I |
|
Ectopia lentis, Hyperactivity, Anemia |
OMIM:238700 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Epicanthus, Hyperactivity, Agitation, Intrauterine growth retardation, Short stature, Recurrent h... |
OMIM:309548 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Intrauterine growth retardation, Corneal opacity |
ORPHA:1980 |
| Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
| Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Arthritis, Hyperpigmentation of the skin, Impotence, Hypogonadotropic hypogo... |
OMIM:604250 |
| Alazami-Yuan Syndrome |
|
Long eyelashes, Cryptorchidism, Hyperactivity, Synophrys, Low anterior hairline, Thick eyebrow, S... |
OMIM:617126 |
| Dermatopathia Pigmentosa Reticularis |
|
Alopecia of scalp, Reticular hyperpigmentation, Abnormal conjunctiva morphology, Nail dystrophy |
OMIM:125595 |
| Autosomal Agammaglobulinemia |
|
Chronic otitis media, Epicanthus, Skin rash, Arthritis, Hepatitis, Sinusitis, Recurrent skin infe... |
ORPHA:33110 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Microphthalmia, Macrocephaly at birth |
ORPHA:324416 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Nasal chondritis, Macrocytic anemia, Arthritis, Thrombocyto... |
OMIM:301054 |
| Fraxe Intellectual Disability |
|
Epicanthus, Hyperactivity, Agitation, Intrauterine growth retardation, Short stature, Recurrent h... |
ORPHA:100973 |
| Trichothiodystrophy |
|
Epicanthus, Brittle hair, Keratoconjunctivitis sicca, Fragile nails, Sparse scalp hair, Cryptorch... |
ORPHA:33364 |
| Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Camptodactyly, Anterior basal encephalocele, Microphthalmia, Postaxial hand ... |
OMIM:136760 |
| Cockayne Syndrome Type 1 |
|
Cataract, Cryptorchidism, Anemia, Hypermelanotic macule, Pigmentary retinopathy, Uveitis, Male hy... |
ORPHA:90321 |
| Temtamy Syndrome |
|
Macrocephaly, Genu varum, Microphthalmia, Clinodactyly of the 5th finger, Short toe, Aplasia/Hypo... |
ORPHA:1777 |
| Waardenburg Syndrome, Type 2A |
|
Synophrys, Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Par... |
OMIM:193510 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Epicanthus, Hyperactivity, Short stature, Increased serum serotonin, Hirsutism |
ORPHA:85288 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... |
OMIM:603902 |
| Beta-Thalassemia Major |
|
Hepatosplenomegaly, Delayed puberty, Hypopituitarism, Anisopoikilocytosis, Extramedullary hematop... |
ORPHA:231214 |
| Holocarboxylase Synthetase Deficiency |
|
Keratoconjunctivitis, Alopecia, Growth delay, Thrombocytopenia, Perioral eczema, Eczema |
ORPHA:79242 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hypoplastic nipples, Sparse eyebrow, Sparse hair, Blepharophimosis, Rectovaginal fistula, Absence... |
OMIM:129900 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia |
OMIM:250940 |
| Refractory Celiac Disease |
|
Increased proportion of HLA DR+ T cells, Inflammatory abnormality of the skin, Normocytic anemia,... |
ORPHA:398063 |
| Carpenter Syndrome |
|
Polydactyly, Umbilical hernia, Finger syndactyly, Syndactyly, Preaxial foot polydactyly, Toe synd... |
ORPHA:65759 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Delayed puberty, Enteroviral hepatitis, Short stature, Decreased response to growth hormone stimu... |
OMIM:307200 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Spina bifida, Tricuspid... |
ORPHA:1120 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Iris hypopigmentation, External genital hypoplasia, Short stature, Hypopigmentation o... |
ORPHA:177910 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Megaloblastic anemia |
OMIM:236270 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Agenesis of corpus callosum, Microcephaly, Microphthalmia, Cerebral atrophy |
OMIM:274270 |
| Angioma, Tufted |
|
