| Gombo Syndrome |
|
Microcephaly, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly |
OMIM:233270 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Megalencephaly, Postaxial hand polydactyly, Hydrocephalus, Thick corpus callosum, Mac... |
OMIM:615938 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Microcephaly |
OMIM:241000 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Sea-Blue Histiocytosis |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin, Splenomegaly, Mediastinal lymphadeno... |
ORPHA:158029 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Sparse eyelashes, Unilateral cryptorchidism, Persistence of hemoglobin F, Incr... |
OMIM:300946 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Clouston Syndrome |
|
Alopecia, Cataract, Sparse eyelashes, Brittle hair, Alopecia totalis, Slow-growing hair, Sparse e... |
OMIM:129500 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Developmental cataract, Growth delay, Decreased testicular size, Thrombocyt... |
OMIM:601815 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Preaxial polydactyly, Spina bifida... |
ORPHA:64754 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
| Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
| Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat... |
ORPHA:2045 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Pancreatic steatosis, Neutropenia, Sparse hair, Hyperactivity, Short stature, Cr... |
OMIM:617052 |
| Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin, Anemia |
OMIM:617409 |
| Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
| Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Poikiloderma With Neutropenia |
|
Skin rash, Short stature, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Nasolacrimal duct ob... |
OMIM:604173 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cataract, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypo... |
OMIM:222300 |
| Birk-Aharoni Syndrome |
|
Cryptorchidism, Macrocytic anemia, Thick eyebrow, Micropenis |
OMIM:620071 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Polydactyly, Talipes equinova... |
OMIM:613885 |
| Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Short stature, Abnormal hemoglobin, Melanocytic nevus, Anemia, Thrombocytopenia |
ORPHA:3319 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Splenomegaly, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, ... |
OMIM:603552 |
| Mmep Syndrome |
|
Microphthalmia, Split foot, Triphalangeal thumb, Microcephaly |
ORPHA:3434 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Cataract, Infertility |
OMIM:300719 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Telecanthus, Hyperpigmentation of the skin, Short stature, Adrenal hypopl... |
OMIM:619151 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Cerebral cortical atrophy, Micromelia, Microcephaly |
ORPHA:291 |
| Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f... |
OMIM:600384 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... |
ORPHA:232 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Microcephaly, Talipes equinovarus, Cerebellar hypoplasia, Microphthalmia, Age... |
OMIM:616570 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Reticulated skin pigmentation, Pterygium of nails, Premature graying of hair, Leukop... |
OMIM:305000 |
| Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Premature graying of hair, Periodontitis, Sparse hair, In... |
ORPHA:1775 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Hypoplasia of the corpus callosu... |
OMIM:164180 |
| Immunodeficiency 46 |
|
Chronic oral candidiasis, Intermittent thrombocytopenia, Conjunctivitis, Neutropenia, Anemia |
OMIM:616740 |
| Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Growth delay, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
| Acalvaria |
|
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of... |
ORPHA:945 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Short statu... |
ORPHA:47 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hypospadias, Supernumerary nipple, Hyperconvex nail, Absent eyelashes, Lacrimal... |
OMIM:106260 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of the corpus callosum, Cort... |
OMIM:615771 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
| Frontal Encephalocele |
|
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... |
ORPHA:1931 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Congenital Ptosis |
|
Unilateral ptosis, Congenital Horner syndrome, Telecanthus, Premature ovarian insufficiency, Epic... |
ORPHA:91411 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Blepharitis, Ectropion |
OMIM:308800 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... |
OMIM:211960 |
| Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Mediastina... |
ORPHA:3392 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, Alopecia, Au... |
ORPHA:227990 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Scarring alopecia of scalp, Foll... |
OMIM:612843 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Deafness, Congenital, With Total Albinism |
|
Hypogonadism, Albinism |
OMIM:220900 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leukopenia, Hash... |
ORPHA:227982 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Nail pits, Reticular hyperpigmentation,... |
OMIM:127550 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Postaxial foot polyda... |
ORPHA:139471 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Lichen Planus Pemphigoides |
|
Hypopigmented streaks, Conjunctivitis, Abnormality of the nail, Blepharitis |
ORPHA:254478 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
| Atopic Keratoconjunctivitis |
|
Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, B... |
ORPHA:163934 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Irregular hyperpigmentation, Leukemia, Hypoplastic anemia, Thromboc... |
OMIM:194350 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Blepharitis, Short stature, Delayed puberty |
OMIM:616834 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Microcephaly, Elbow dislocation, Meningocele,... |
ORPHA:3265 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capitate-hamate fusion... |
OMIM:206920 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... |
OMIM:610140 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Short stature, Neutropenia |
ORPHA:90023 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Epicanthus, Macrocytic anemia, Short stature, Sparse eyebrow, Low posterior hairline, Granulocyto... |
OMIM:606164 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... |
OMIM:250250 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
| Microcephaly-Cardiomyopathy |
|
Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Microcephaly |
OMIM:251220 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
| Atelis Syndrome 1 |
|
Cataract, Eczema, Thrombocytopenia, Hypothyroidism, Bronchiectasis, Leukopenia, Attention deficit... |
OMIM:620184 |
| Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Blepharitis |
OMIM:300918 |
| Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Growth delay, Megaloblastic anemia |
OMIM:243320 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia, Agitation, Ptosis |
OMIM:619046 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Microcephaly, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of... |
ORPHA:3268 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... |
OMIM:615297 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... |
ORPHA:1528 |
| 16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Upslanted palpebral fissure, Astigm... |
ORPHA:261250 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Spa... |
OMIM:602400 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly |
OMIM:213010 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly |
ORPHA:238446 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Short stature, Anorexia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
| Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia |
ORPHA:294975 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| 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 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Growth delay, Neutropenia, Multiple cafe-au-lait spots, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Hyperactivity, Short stature, Cryptorchidism, Synophrys, Growth delay, Polyspl... |
OMIM:614294 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis |
ORPHA:26137 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Short stature, Thiamine-responsive megaloblastic anemia,... |
OMIM:249270 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Telecanthus, Gastritis, Hypospadias, Folate-unresponsive megaloblastic anemia, Abnormal erythrocy... |
ORPHA:2575 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Alopecia, Short stature, Eczema, Postnatal growth retardation, Thyroiditis, Ir... |
OMIM:212750 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
| Glutamate Formiminotransferase Deficiency |
|
Growth delay, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia |
OMIM:229100 |
| Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia, Cataract, Diabetes mellitus, Hypogonadism, Dysphagia, Hypothyroidism, Ptosis |
ORPHA:98673 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morphology, Anemia o... |
ORPHA:75564 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Sparse hair, Blepharitis, Sparse ... |
OMIM:618535 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Cataract, Entropion, Hypermelanotic macule, Short stature,... |
ORPHA:910 |
| Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Hypospadias, Short stature, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreas... |
ORPHA:300298 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T... |
OMIM:598500 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... |
OMIM:607594 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Postaxial h... |
OMIM:611134 |
| Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Temporal cortical ... |
OMIM:615665 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Conjunctivitis, Recurrent sinusitis, Decreased proportion of class-switch... |
OMIM:613493 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Anorexia, Abnormal eyelid morp... |
ORPHA:37 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Lissencephaly 8 |
|
Occipital encephalocele, Microcephaly, Hypoplasia of the brainstem, Talipes equinovarus, Hypoplas... |
OMIM:617255 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia |
OMIM:612527 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Muckle-Wells Syndrome |
|
Maculopapular exanthema, Short stature, Leukocytosis, Conjunctivitis, Recurrent aphthous stomatit... |
OMIM:191900 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Thrombocytopenia, Retinal pigment epithelial mottling, Arthri... |
ORPHA:448237 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Cerebella... |
OMIM:218670 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Conjunctivitis, B lymphocytopenia, Recurrent oti... |
OMIM:612692 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Hyperactivity, Eczema, Aggressive behavior, Cryptorchidism, Hypertrichosis, Se... |
OMIM:618362 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Short stature, Splenomegaly, Uveitis, Arthritis, Conjunctivitis, Recurre... |
ORPHA:575 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Premature ovarian insufficiency, Decrea... |
ORPHA:199299 |
| Congenital Erythropoietic Porphyria |
|
Facial hypertrichosis, Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Hy... |
ORPHA:79277 |
| Ifap Syndrome 2 |
|
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail d... |
OMIM:619016 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel... |
ORPHA:2839 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Narrow femoral neck, Congenital hip dislocation, Delayed phalangeal epiphyseal ossification, Long... |
OMIM:603546 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Alazami-Yuan Syndrome |
|
Hyperactivity, Short stature, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hair... |
OMIM:617126 |
| Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Megalencephaly, Hydrocephalus, Progressive macrocephaly, Polydactyly, Microphthalmia,... |
OMIM:602501 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Intrauterine growth retardation, Macrocytic anemia, Increased mitochondrial number, Hypersegmenta... |
OMIM:615578 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Short stature, Anisocytosis, Anemia of inadequate production, Splenomegaly, Grow... |
OMIM:615631 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Cataract, Corneal scarring, Growth delay, Conjunctivitis, Nail dystrophy, Nail dysplasi... |
OMIM:226600 |
| Hepatoerythropoietic Porphyria |
|
Facial hypertrichosis, Recurrent bacterial skin infections, Hemolytic anemia, Splenomegaly, Scarr... |
ORPHA:95159 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Cerebral atrophy, Genu valgum, Cutaneous syndactyly, Hypoplasia ... |
ORPHA:166024 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Microcephaly, Short thumb, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
| White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Hydrolethalus |
|
Anophthalmia, Absent septum pellucidum, Micromelia, Postaxial hand polydactyly, Hydrocephalus, An... |
ORPHA:2189 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
| Eec Syndrome |
|
Entropion, Hypospadias, Decreased response to growth hormone stimulation test, Slow-growing hair,... |
ORPHA:1896 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida |
ORPHA:2476 |
| Bone Marrow Failure Syndrome 5 |
|
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticular hyperpigmentation, Growth d... |
OMIM:618165 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Abnormal left ventricular function, Ca... |
OMIM:613155 |
| Seckel Syndrome 2 |
|
Microcephaly, Heart murmur, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Microphthalmia |
OMIM:606744 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Absent septum pellucidum, Optic nerve hypoplasia, Polydactyly, Short finge... |
OMIM:182230 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Male hypogonadism, Hypothyroidism, Alopec... |
OMIM:240300 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Eczema, Anorexia, Keratoconjunctivitis, Growth delay, Thrombocytopenia, Perioral eczema |
ORPHA:79242 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Epicanthus, Hypospadias, Short stature, Pure red cell aplasia, Erythroid ... |
ORPHA:124 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Growth delay |
OMIM:612561 |
| Schisis Association |
|
Encephalocele, Spina bifida, Micromelia, Microcephaly, Anencephaly |
ORPHA:63862 |
| Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Hemolytic anemia, Alopecia, Hyperpigmentation of the skin, Short stature, Splenom... |
OMIM:263700 |
| Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Growth delay, I... |
OMIM:619774 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Increased mean corpuscular volume,... |
ORPHA:2169 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Macrocephaly, Polydactyly, Microcephaly |
OMIM:617119 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Griscelli Syndrome |
|
Abnormal eyebrow morphology, Short stature, Abnormality of neutrophils, Abnormal eyelash morpholo... |
ORPHA:381 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bi... |
ORPHA:1327 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Epicanthus, Short stature, Impulsivity, Aggressive behavior, Stereotypical body ro... |
OMIM:309548 |
| Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Ab... |
ORPHA:69085 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly |
OMIM:614830 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p... |
OMIM:616171 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of skin pigmentation, Growth delay, Nail dystrophy, Anony... |
ORPHA:79402 |
| Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... |
ORPHA:477 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Conju... |
OMIM:240500 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Anemia, Ectopia lentis |
OMIM:238700 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Epicanthus, Short stature, Impulsivity, Aggressive behavior, Stereotypical body ro... |
ORPHA:100973 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Anemia of inadequate produc... |
OMIM:224120 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Epicanthus, Hypospadias, Short stature, Microcytic anemia, Cryptorchidism, HbH hemoglobin, Downsl... |
ORPHA:98791 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt... |
ORPHA:811 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Juvenile Xanthogranuloma |
|
Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Multiple cafe-au-la... |
ORPHA:158000 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Epicanthus, Cataract, Short stature, Increased serum serotonin, Hirsutism |
ORPHA:85288 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal morphology of the radius, Microcephaly |
ORPHA:3469 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
| Trichothiodystrophy |
|
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Microcornea, Conjunctivitis, Neut... |
ORPHA:33364 |
| Infantile Liver Failure Syndrome 1 |
|
Macrocytic anemia, Anemia |
OMIM:615438 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Blepharitis, Erythroderma |
OMIM:614328 |
| Hartsfield Syndrome |
|
Encephalocele, Split hand, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Ap... |
ORPHA:2117 |
| Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail... |
OMIM:258360 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Short stature, Abnormality of neutrophils |
ORPHA:2760 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth |
OMIM:183300 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency |
OMIM:617732 |
| Moebius Syndrome |
|
Epicanthus, Corneal opacity, Hypogonadotropic hypogonadism, Breast aplasia, Dysphagia, Multiple c... |
ORPHA:570 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:604292 |
| Proteus Syndrome |
|
Splenomegaly, Depigmentation/hyperpigmentation of skin, Limbal dermoid, Downslanted palpebral fis... |
OMIM:176920 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Macrocephaly, Tapered finger |
OMIM:618725 |
| Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
| Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
| Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, ... |
ORPHA:98870 |
| Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Reticulated skin pigmentation, Growth delay, Nail dystrophy, Bone marrow hypocellul... |
OMIM:613987 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Microphthalmia, Type II lissencephaly |
ORPHA:324416 |
| Cockayne Syndrome Type 2 |
|
Hypermelanotic macule, Cryptorchidism, Uveitis, Developmental cataract, Conjunctivitis, Male hypo... |
ORPHA:90322 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Epicanthus, Short stature, Highly arched eyebrow, Long eyelashes, Shawl scrotum, Chronic otitis m... |
ORPHA:261279 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
| Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hy... |
OMIM:136760 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Macrocephaly, Metaphyseal c... |
OMIM:300863 |
| Dermatopathia Pigmentosa Reticularis |
|
Abnormal conjunctiva morphology, Alopecia of scalp, Nail dystrophy, Reticular hyperpigmentation |
OMIM:125595 |
| Temtamy Syndrome |
|
Short toe, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of t... |
ORPHA:1777 |
| Autosomal Agammaglobulinemia |
|
Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepat... |
ORPHA:33110 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Alopecia, Autoimmune thrombocytopenia, Thrombocytopenia, Leukopenia, Optic neuritis,... |
OMIM:301080 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... |
ORPHA:293173 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Cockayne Syndrome Type 1 |
|
Cataract, Hypermelanotic macule, Postnatal growth retardation, Cryptorchidism, Uveitis, Pigmentar... |
ORPHA:90321 |
| Refractory Celiac Disease |
|
Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In... |
ORPHA:398063 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Cheilitis, Thrombocytopenia |
ORPHA:90045 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia |
OMIM:250940 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Acne, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia... |
ORPHA:3000 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Sh... |
ORPHA:1120 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical... |
ORPHA:65759 |
| Lesch-Nyhan Syndrome |
|
Short stature, Megaloblastic anemia, Self-injurious behavior, Dysphagia, Testicular atrophy, Podagra |
OMIM:300322 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Megaloblastic anemia |
OMIM:236270 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:274270 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Decreased ... |
OMIM:234050 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:278780 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:129900 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Epicanthus, Hyperactivity, Short stature, Eczema, Highly arched eyebrow, Bilateral ptosis, Crypto... |
ORPHA:352490 |
| Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
| Beta-Thalassemia Major |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231214 |
| Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Hyperpigmentation of the skin, Arthritis, Impotence, Neutropenia, ... |
OMIM:604250 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Microcephaly, ... |
ORPHA:370010 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Microcephaly, Hydr... |
ORPHA:1908 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Short statu... |
ORPHA:177910 |
| Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Anorexia, Adrenal... |
ORPHA:85138 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Growth delay, Increased mean corpuscular volume, Esophagitis, Neutropenia, Rec... |
OMIM:612562 |
| Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Thrombocytopenia |
OMIM:189800 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Arthritis, Panni... |
OMIM:617591 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Short stature, Pneumonia, Decreased response to growth hormone stimulation test, Enter... |
OMIM:307200 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Ptosis |
OMIM:610539 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia, Split foot, Microcephaly |
OMIM:601349 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia, Clinodactyly, Microcephaly |
OMIM:619981 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, ... |
ORPHA:899 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Crouzon Syndrome |
|
Hypopigmented skin patches, Melanocytic nevus, Conjunctivitis, Iris coloboma, Ptosis |
ORPHA:207 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Short stature, P... |
ORPHA:3322 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad... |
OMIM:617718 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Cryptorchidism, Premature graying of hair, Anemia, Nail dystrophy, Type I diabetes mellitus, Lymp... |
OMIM:620365 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Splenomegaly, Uveitis, Lymphadenopathy, Arthritis, Conjunctivitis, Irreg... |
ORPHA:36412 |
| Dermatitis, Atopic |
|
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, C... |
OMIM:603165 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Alopecia, Aplastic anemia, Short stature, Reticulated skin pigmentation, Cryptorchi... |
OMIM:613990 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Microcephaly |
ORPHA:2528 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly |
ORPHA:2440 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
| 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 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Highly arched eyebrow, Microcytic anemia, Cryptorch... |
ORPHA:293967 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Thrombocytopenia |
OMIM:166990 |
| Cofs Syndrome |
|
Cerebral calcification, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the cerebell... |
ORPHA:1466 |
| Transketolase Deficiency |
|
Cataract, Proportionate short stature, Seborrheic dermatitis, Secondary amenorrhea, Uveitis, Self... |
ORPHA:488618 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Sideroblastic anemia, Dysphagia, Ptosis |
OMIM:613561 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... |
OMIM:301101 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Epicanthus, Pancytopenia, Skin rash, Short stature, Megaloblastic anemia, Thrombocytopenia, Neutr... |
OMIM:277380 |
| Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Ocular albinism, Abnormal platelet aggregation, Leukopenia, Hypopigmen... |
OMIM:614171 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Short stature, Megaloblastic anemia, Abnormality of hair texture, Developmental cataract, Hypogon... |
ORPHA:79351 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| 2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Hyperactivity, Short stature, Highly arched eyebrow, Cryptorchidism, Synophr... |
ORPHA:228402 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Finger syndactyly, Cortical dysplasia, Toe syndactyly |
ORPHA:261272 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Premature ovarian insufficiency, Short stature, Aggressive behavior, Synophrys, Ly... |
ORPHA:391307 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Cataract, Abnormal fingernail morphology, Generalized hyperpigmentation, Anorexia, Hypo... |
ORPHA:2930 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Hypermelanotic macule, Orchitis, Splenomegaly, Peri... |
ORPHA:32960 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Hypomelanosis Of Ito |
|
Syndactyly, Microcephaly, Cerebral atrophy, Hand polydactyly, Radial deviation of finger, Macroce... |
OMIM:300337 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease |
OMIM:600251 |
| Trisomy 1Q |
|
Anophthalmia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly,... |
ORPHA:261344 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
| H Syndrome |
|
Microcytic anemia, Corneal arcus, Micropenis, Alopecia, Psoriasiform dermatitis, Short stature, B... |
ORPHA:168569 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis... |
OMIM:602562 |
| Adams-Oliver Syndrome 3 |
|
Microcephaly, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx ... |
OMIM:614814 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Generalized hyperpigmentation, Thrombocytopenia, Splenomeg... |
ORPHA:47612 |
| Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, A... |
ORPHA:848 |
| Long Qt Syndrome 8 |
|
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... |
OMIM:618447 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Chilblains, Splenomegaly, Intrauterine growth retardation, Thrombocytopenia |
OMIM:615010 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Growth delay, Pigmentary retinopath... |
OMIM:600462 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Abnormal repetitive mannerisms, Hyperactivity, Short stature |
OMIM:300271 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia |
OMIM:237800 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Epicanthus, Short stature, Bruxism, Hirsutism |
OMIM:300434 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... |
ORPHA:229717 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Sandal gap, Microcephaly, Pulmonary arterial hypertension, Hypoplasia of the corpus callosum, Mic... |
OMIM:300887 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art... |
OMIM:604416 |
| Autism, Susceptibility To, X-Linked 3 |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:300425 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Short palpebral fissure, Almond-shaped palpebral fissure, Thrombocy... |
ORPHA:261323 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Epicanthus, Hyperpigmented/hypopigmented macules, Synophrys, Upslanted palpebral fissure, Hydroce... |
ORPHA:280633 |
| Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Diabetes mellitus, Short stature, Polycystic ovaries, Premature graying... |
ORPHA:100 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl... |
OMIM:619091 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum |
ORPHA:411986 |
| Lipoma Of The Conjunctiva |
|
Conjunctival lipoma |
OMIM:151700 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced p... |
OMIM:617443 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Eczema, Microcytic anemia, Abnormality of skin pigmentation, Dysphagia, Hypertrichosis |
OMIM:612379 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Smith-Magenis syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Short stature, Self-mutilation |
DECIPHER:8 |
| Leukonychia Totalis |
|
Abnormal eyelash morphology, Blepharitis |
ORPHA:2387 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
| Lig4 Syndrome |
|
Epicanthus, Psoriasiform dermatitis, Pancytopenia, Cryptorchidism, Hypothyroidism, Low anterior h... |
OMIM:606593 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Niemann-Pick Disease, Type B |
|
Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, An... |
OMIM:607616 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm... |
ORPHA:2273 |
| Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Overlapping toe, Microcephaly, Perisylvian polymicrogyria, Cerebral... |
OMIM:600118 |
| Autism |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:607373 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Genital ulcers, Colitis, Lymphopenia, Thrombocytop... |
OMIM:616744 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Spina bifida, Macrocephaly, Large ha... |
ORPHA:3219 |
| Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nasolacrimal duct obst... |
OMIM:103285 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 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 |
| Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Synophrys, Abnormal repetitive mannerisms, Astigmatism, Neutropenia, Downslanted ... |
OMIM:618067 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Growth delay, Coombs-posit... |
OMIM:614034 |
| Srd5A3-Cdg |
|
Cataract, Decreased response to growth hormone stimulation test, Microcytic anemia, Abnormal hair... |
ORPHA:324737 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Pancreatic Colipase Deficiency |
|
Growth delay, Cholelithiasis, Megaloblastic anemia |
ORPHA:309108 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, T lymphocy... |
OMIM:300755 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Acatalasemia |
|
Severe periodontitis, Microcytic anemia, Type II diabetes mellitus, Type I diabetes mellitus, Vit... |
ORPHA:926 |
| Recon Progeroid Syndrome |
|
Short stature, Hyperconvex thumb nails, Hirsutism, Red eye, Absent lower eyelashes, Anemia, Growt... |
OMIM:620370 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Macrocephaly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Skin rash, Short stature, Thrombo... |
ORPHA:290 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Forsythe-Wakeling Syndrome |
|
Growth delay, Short stature, Thrombocytopenia |
OMIM:613606 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Duplication of thumb phalanx, Megalencephaly, Preaxial hand polydactyly, L... |
OMIM:601707 |
| Fanconi Anemia, Complementation Group R |
|
Tethered cord, Microcephaly, Absent thumb, Hydrocephalus, Microphthalmia, Radial dysplasia |
OMIM:617244 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Short stature, Microcytic anemia, Hypothyroidism, Recurrent pneumonia, Hepatosplenomegaly, Lympha... |
OMIM:619750 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Holoprosencephaly, Microcephaly |
OMIM:147250 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Megalencephaly, Microceph... |
OMIM:600325 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Menorrhagia, Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia |
OMIM:124900 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Xq25 Microduplication Syndrome |
|
Epicanthus, Hyperactivity, Short stature, Highly arched eyebrow, Sparse eyebrow, Abnormality of t... |
ORPHA:521258 |
| Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Absent axillary hair |
OMIM:269600 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
| Hemochromatosis, Type 4 |
|
Cataract, Diabetes mellitus, Osteoarthritis, Anemia, Impotence, Hyperpigmentation of the skin |
OMIM:606069 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Short stature, Anorexia, Hepatosplenomegaly, Decreased mean co... |
OMIM:611590 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Lissencephaly,... |
OMIM:616038 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Epicanthus, Hyperactivity, Aggressive behavior, Precocious puberty, Cryptorchidism, Synophrys, Ab... |
ORPHA:3306 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hypopigmentation ... |
OMIM:214500 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, ... |
OMIM:251270 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia, Intrauterine growth retardation |
ORPHA:295 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, A... |
ORPHA:231222 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
| Bone Marrow Failure Syndrome 4 |
|
Short stature, Eczema, Rhizomelia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:618116 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot |
DECIPHER:46 |
| Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Short stature, Bilateral ptosis, Abnormality of skin pigmentation, Na... |
OMIM:620040 |
| Trichothiodystrophy 1, Photosensitive |
|
Cataract, Brittle hair, Trichoschisis, Short stature, Fine hair, Microcornea, Keratoconjunctiviti... |
OMIM:601675 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Re... |
OMIM:227650 |
| Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectropion |
ORPHA:411777 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Normochromic anemia, Cholec... |
OMIM:615512 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... |
OMIM:607361 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
| Diamond-Blackfan Anemia 1 |
|
Epicanthus, Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, P... |
OMIM:105650 |
| Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Epicanthus, Aggressive behavior, Conjunctival hyperemia |
OMIM:619548 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Agenesis of co... |
OMIM:207950 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... |
ORPHA:163966 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Cogan Syndrome |
|
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... |
ORPHA:1467 |
| Xeroderma Pigmentosum, Variant Type |
|
Entropion, Freckles in sun-exposed areas, Keratitis, Growth delay, Conjunctivitis, Ectropion |
OMIM:278750 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of... |
OMIM:615181 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Phenylketonuria |
|
Hyperactivity, Cataract, Eczema, Aggressive behavior, Blue irides, Compulsive behaviors, Attentio... |
OMIM:261600 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Metrorrhagia, Albinism, Impaired ADP-induced platelet aggregation... |
OMIM:614074 |
| Aicardi-Goutieres Syndrome 3 |
|
Chilblains, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Downslanted palpebral fissures, Compulsive behavior... |
OMIM:613670 |
| Stevens-Johnson Syndrome |
|
Dyspareunia, Entropion, Abnormality of neutrophils, Thrombocytopenia, Corneal erosion, Conjunctiv... |
ORPHA:36426 |
| Hemochromatosis, Type 2B |
|
Hyperpigmentation of the skin, Splenomegaly, Secondary amenorrhea, Hypogonadism, Anemia |
OMIM:613313 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
| Fanconi Anemia, Complementation Group C |
|
Epicanthus, Pancytopenia, Hypergonadotropic hypogonadism, Hyperpigmentation of the skin, Short st... |
OMIM:227645 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly, Megalencephaly, Abnormally large globe, Hydrocephalus, Thick corpus callos... |
OMIM:603387 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Epicanthus, Absent platelet dense granules, Fair hair, Albinism, ... |
OMIM:608233 |
| Smith-Kingsmore Syndrome |
|
Curly hair, Rhizomelia, Cryptorchidism, Cafe-au-lait spot, Downslanted palpebral fissures, Thromb... |
OMIM:616638 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi... |
ORPHA:846 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Cerebral hemorrhage, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short ... |
OMIM:300049 |
| Pierpont Syndrome |
|
Abnormal cortical gyration, Short toe, Deep palmar crease, Short finger, Primary microcephaly, Pr... |
ORPHA:487825 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Hyperpigmentation of the skin... |
OMIM:224230 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
| Shigellosis |
|
Pneumonia, Abscess, Anorexia, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, ... |
ORPHA:810 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Splenomegaly, Arthritis, Azoospermia, Infertility, Hyperpigmentati... |
OMIM:602390 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Microcephaly |
OMIM:300915 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Elevated circulating thyroid-stimulating hormone concentration, Premature gray... |
OMIM:256040 |
| Trisomy 13 |
|
Anophthalmia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle ... |
ORPHA:3378 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin, Short stature, Neutropenia |
OMIM:610798 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Lymphadenopathy, Anemia, Intrauterine growth retardation, Th... |
ORPHA:858 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Joubert Syndrome 16 |
|
Encephalocele, Polydactyly, Dandy-Walker malformation |
OMIM:614465 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Hirsutism, Fragile na... |
OMIM:617475 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles |
OMIM:601706 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
| Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Hy... |
OMIM:157900 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Microcephaly, Cubitus valgus, Camptodactyly, Microphthalmia, Thin corpus ... |
OMIM:619694 |
| Chromosome Xq13 Duplication Syndrome |
|
Medial flaring of the eyebrow, Ptosis, Epicanthus, Hyperactivity, Highly arched eyebrow, Autoimmu... |
OMIM:301069 |
| Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
| Kindler Epidermolysis Bullosa |
|
Corneal opacity, Recurrent skin infections, Phimosis, Cheilitis, Abnormality of skin pigmentation... |
ORPHA:2908 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Avian Influenza |
|
Pneumonia, Thrombocytopenia, Hepatitis, Leukopenia, Conjunctivitis, Lymphopenia, Infectious encep... |
ORPHA:454836 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, ... |
ORPHA:95455 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp... |
OMIM:613153 |
| Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Hypospadias, Eczema, Proportionate short stature, Hyperpigmented/hypopigmented macu... |
OMIM:620331 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Macrocephaly, Short palm, Clinodactyly o... |
ORPHA:3210 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism, Impaired platelet aggregation, ... |
OMIM:614072 |
| Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate |
OMIM:201550 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Alopecia, Recurrent p... |
OMIM:616576 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Synophrys, Low anterior hairline, Microcornea, Abnormality of the uterus, Co... |
ORPHA:199 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Hypermelanotic macule, Bilateral cryptorchidism, Thrombocytopenia, Elevated circula... |
OMIM:242900 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Type II diabet... |
OMIM:616860 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis, Growth delay,... |
OMIM:617388 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Decreased serum testosterone concentration, Alopecia, Cataract, Prematu... |
ORPHA:2959 |
| Fanconi Anemia, Complementation Group F |
|
Hyperpigmentation of the skin, Decreased response to growth hormone stimulation test, Pneumonia, ... |
OMIM:603467 |
| Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Short stature, Reticulocytopenia, Growth delay, Steroid-responsive anemia, Anemia |
OMIM:613309 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Lymphadenopathy, Colitis, Hemophagocytosis, Recurrent s... |
OMIM:613101 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Epicanthus, Sinusitis, Autoimmune hemolytic anemia, Premature ovaria... |
OMIM:251260 |
| Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Short stature, Cryptorchidism, Growth delay, Blepharophimosis, Cafe-au-lait spot, S... |
OMIM:613951 |
| Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Microcephaly, Hydrocephalus, Cerebral atrophy, Absent distal pha... |
OMIM:614219 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Epicanthus, Telecanthus, Thick hair, Thrombocytopenia, Hepat... |
ORPHA:505248 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Familial Cold Urticaria |
|
Arthritis, Polydipsia, Conjunctivitis |
ORPHA:47045 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior |
OMIM:248510 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum |
ORPHA:77298 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Corneal opacity, Pneumonia, External genital hypoplasia, Congenital abnormal ... |
ORPHA:1867 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger |
ORPHA:376 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Short stature, Abnormality of neutrophils, White hair, Ocular albinism, Hypochromic ane... |
ORPHA:2720 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Entropion, Keratitis, Conjunctivitis, Freckling, Hypopigmentation of the skin, Ectropion |
OMIM:278720 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Noonan Syndrome 4 |
|
Curly hair, Epicanthus, Short stature, Sparse eyebrow, Bilateral ptosis, Cryptorchidism, Blue iri... |
OMIM:610733 |
| De Sanctis-Cacchione Syndrome |
|
Entropion, Severe short stature, Hypermelanotic macule, Keratitis, Bilateral cryptorchidism, Gona... |
OMIM:278800 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia... |
OMIM:304790 |
| Pierpont Syndrome |
|
Microcephaly, Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, Pr... |
OMIM:602342 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopathy, Anemia, Le... |
ORPHA:507 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Triceps aplasia, Patellar aplasia, Hypopl... |
OMIM:161200 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Diffuse cerebral atrophy, Arachnodactyly, Broad hallux, Proximal placement of thum... |
OMIM:613776 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,... |
ORPHA:93267 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Short stature, Fine ha... |
ORPHA:1806 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con... |
OMIM:618914 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Corneal arcus, Normochromic anemia |
OMIM:245900 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
| Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly |
OMIM:614845 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, H... |
OMIM:269200 |
| Toxic Epidermal Necrolysis |
|
Entropion, Thrombocytopenia, Corneal erosion, Dysphagia, Conjunctivitis, Neutropenia, Polydipsia,... |
ORPHA:537 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Hyperpigmentation of the skin, Short stature, Crypt... |
OMIM:600901 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:71526 |
| Mixed Connective Tissue Disease |
|
Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Myocarditis, Splenomega... |
ORPHA:809 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the subungual region, Gastrointestinal inflammation, Abnormality of skin pigmentat... |
ORPHA:79411 |
| 3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Postnatal growth retardation, Cryptorchidism, Normochromic microcytic anemia, Intrau... |
OMIM:610198 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Low anterior hairline, Thin eyebrow |
OMIM:619690 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Alopecia, Short stature, Conjunctivitis, Erythroderma, Sparse hair, Fragile nails |
OMIM:242150 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Stt3B-Cdg |
|
Small scrotum, Cryptorchidism, Intrauterine growth retardation, Micropenis, Thrombocytopenia |
ORPHA:370924 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Short stature, Reticulated skin pigmentation, Premature graying of... |
OMIM:613989 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Impotence, Thrombocytopenia, Dysphagia |
OMIM:615750 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Megaloblastic anemia, Growth delay, Neutropenia, Stomatitis, Intrauterine growth retar... |
ORPHA:79284 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Short stature, Aggressive behavior, Synophrys, Abnormal repetitive mannerisms |
OMIM:615541 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Epicanthus, Hypopigmentation of hair, Short stature, Splenomegaly, Growth delay, Intrauterine gro... |
OMIM:618541 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Cholelithiasis, Anemia of inadequate production |
OMIM:224100 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow |
ORPHA:2222 |
| Hermansky-Pudlak Syndrome 11 |
|
Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris transillumina... |
OMIM:619172 |
| Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Hypertension, Short palm |
ORPHA:79094 |
| Hemochromatosis, Type 1 |
|
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impotence,... |
OMIM:235200 |
| Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Postaxial polydactyly, Macrocephaly |
OMIM:300804 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Microcephaly, Adducted thumb, Flared metaphysis, Hip... |
OMIM:610758 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Small scrotum, Cryptorchidism, Intrauterine growth retardation, Micropenis, Thrombocytopenia |
OMIM:615597 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Dubowitz Syndrome |
|
Abnormality of neutrophils, Hypoplastic toenails, Low anterior hairline, Abnormality of skin pigm... |
ORPHA:235 |
| Wilson Disease |
|
Abnormality of the menstrual cycle, Aggressive behavior, Thrombocytopenia, Splenomegaly, Hypersex... |
ORPHA:905 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5... |
OMIM:274000 |
| Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
| Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
| Stuve-Wiedemann Syndrome 2 |
|
Intrauterine growth retardation, Eczema, Thrombocytopenia, Dysphagia |
OMIM:619751 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Bone marrow hypocellularit... |
OMIM:616435 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Short stature, Postnatal growth retardation, Low anterior hairline, Low posterior ... |
ORPHA:73272 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive mic... |
OMIM:615249 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatoglyphics, C... |
ORPHA:2092 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Hypoplasia o... |
OMIM:607131 |
| Griscelli Syndrome Type 2 |
|
Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Lymphadenopathy, Prematur... |
ORPHA:79477 |
| Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Atopic dermatitis, Nail pits, ... |
ORPHA:79153 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Menorrhagia, Thrombocytopenia |
OMIM:616913 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Sparse scalp hair, Epicanthus, Overfriendliness, Sparse eyelashes, Hypospadias, Highly arched eye... |
OMIM:619293 |
| Von Willebrand Disease, Type 2 |
|
Menorrhagia, Thrombocytopenia |
OMIM:613554 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Keratoconjunc... |
ORPHA:238468 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Microcephaly, Spina b... |
ORPHA:99776 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Blue irides, Congenital hypothyroi... |
OMIM:614613 |
| Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymp... |
OMIM:603554 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta... |
ORPHA:2968 |
| Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Microcephaly, Preaxial hand polydactyly, P... |
ORPHA:564 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Chromosome Xq25 Duplication Syndrome |
|
Epicanthus, Hyperactivity, Short stature, Highly arched eyebrow, Sparse eyebrow, Thick eyebrow |
OMIM:300979 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Broad hallux, Overlapping toe, Abnormality of the hand, Optic nerve hypopla... |
ORPHA:508498 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand |
ORPHA:3152 |
| Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... |
ORPHA:897 |
| Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... |
OMIM:109400 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Agenesis of cerebellar vermis,... |
OMIM:614815 |
| Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of... |
ORPHA:141083 |
| Monosomy 5P |
|
Finger syndactyly, Small hand, Microcephaly |
ORPHA:281 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Postaxial poly... |
OMIM:605627 |
| Gand Syndrome |
|
Hyperactivity, Narrow palpebral fissure, Tics, Sparse hair, Inappropriate laughter, Blepharophimosis |
OMIM:615074 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Anophthalmia, Absent septum pellucidum, Aplastic clavicle, Abn... |
ORPHA:2538 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:608636 |
| Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
| Lacrimal Duct Defect |
|
Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele |
OMIM:149700 |
| Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
| Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Cataract, Premature ovarian insuf... |
ORPHA:79239 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Highly arched eyebrow, Cryptorchidism, Abnormal repetitive ma... |
OMIM:619005 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Growth delay, Normochromic anemia, Neutropenia, Thrombocytopenia |
OMIM:614857 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Annular pancreas, Re... |
OMIM:227646 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Conjunctival icterus, Increased mean corpuscular hemoglobin concen... |
OMIM:194380 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Anorexia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia... |
ORPHA:520 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Portal hypertension... |
ORPHA:974 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Epicanthus, Short stature, Splenomegaly, Low posterior hairline, Normochromic ... |
OMIM:611881 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
| Babesiosis |
|
Hemolytic anemia, Anorexia, Splenomegaly, Leukopenia, Thrombocytopenia |
ORPHA:108 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Postaxial polydactyly... |
OMIM:614424 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Epicanthus, Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Fixated interests, Ti... |
OMIM:617788 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... |
OMIM:614175 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Short stature, Splenomegaly, Enterocolitis, Anemia, Reduced natural kill... |
OMIM:616050 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Hamamy Syndrome |
|
Hypoparathyroidism, Telecanthus, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Cryptorchid... |
OMIM:611174 |
| Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidias... |
OMIM:158310 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia, Microcephaly |
OMIM:616910 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Sengers Syndrome |
|
Cataract, Premature ovarian insufficiency, Developmental cataract, Growth delay, Thrombocytopenia |
OMIM:212350 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Spina bifida |
ORPHA:2345 |
| Diabetic Embryopathy |
|
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Aplasi... |
ORPHA:1926 |
| Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand |
OMIM:619339 |
| Mirage Syndrome |
|
Hypospadias, Hypergonadotropic hypogonadism, Short stature, Adrenal hypoplasia, Thrombocytopenia,... |
OMIM:617053 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short foot, Agenesis of cor... |
ORPHA:264200 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Thrombocytopenia |
OMIM:615008 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity, Synophrys, Upslanted palpebral fissure, Macroorchidism |
OMIM:300143 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Oligoarthritis, Conjuncti... |
OMIM:142680 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia |
OMIM:614493 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh... |
OMIM:231200 |
| Wiedemann-Steiner Syndrome |
|
Elbow hypertrichosis, Synophrys, Generalized hirsutism, Brow ptosis, Hyperactivity, Short stature... |
OMIM:605130 |
| Silver-Russell Syndrome 3 |
|
Unilateral cryptorchidism, Short stature, Postnatal growth retardation, Antecubital pterygium, Me... |
OMIM:616489 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Microcephaly, Aqueductal stenosis, Humeroradial synostos... |
OMIM:251230 |
| Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Porencephalic cyst, Cerebral atrophy, Hand polydactyly, Fo... |
OMIM:258860 |
| Cerebrocostomandibular Syndrome |
|
Cerebral calcification, Hydranencephaly, Spina bifida, Microcephaly, Myelomeningocele, Porencepha... |
ORPHA:1393 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
| Biotinidase Deficiency |
|
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis |
OMIM:253260 |
| Immunodeficiency 54 |
|
Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenocorticotropic h... |
OMIM:609981 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
| Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Short stature, Primary adrenal insuf... |
OMIM:530000 |
| Trisomy 18 |
|
Camptodactyly of finger, Spina bifida, Microcephaly, Postaxial hand polydactyly, Anencephaly, Apl... |
ORPHA:3380 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... |
OMIM:601859 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
| Abcd Syndrome |
|
White eyelashes, White eyebrow, Polycythemia, Albinism |
OMIM:600501 |
| 48,Xxyy Syndrome |
|
Epicanthus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Blepharophimosis, Cryptorchidism... |
ORPHA:10 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... |
OMIM:603909 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:98793 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... |
OMIM:152700 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... |
ORPHA:63259 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Microcytic anemia, Hypochromic anemia, Ptosis |
OMIM:618451 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia, Hypertrichosis |
ORPHA:1063 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:98754 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Epicanthus, Telecanthus, Hypospadias, Generalized hyperpigmentation, B... |
ORPHA:3339 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... |
OMIM:613011 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand |
ORPHA:2547 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Hydrocele testis, Hypospadias, Microcytic anemia |
OMIM:618972 |
| Diamond-Blackfan Anemia 11 |
|
Short stature, Anemia of inadequate production, Eyelid coloboma, Bone marrow hypocellularity, Neu... |
OMIM:614900 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hydrocephalus, Hand polydactyly, C... |
ORPHA:60040 |
| Prolidase Deficiency |
|
Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Lo... |
OMIM:170100 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Microcephaly |
OMIM:610756 |
| Bresek Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, Microphthalmia |
ORPHA:85284 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Hypopigmentation of hair, Polyphagia, Inappropriate laughter, Hypopigmentation of ... |
ORPHA:411515 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:177904 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... |
ORPHA:398079 |
| Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Short stature, Eczema, Highly arched eyebrow, Aggressive behavior, Hypothyroidism,... |
OMIM:600430 |
| Hermansky-Pudlak Syndrome 4 |
|
Menorrhagia, Absent platelet dense granules, Ocular albinism, Albinism |
OMIM:614073 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Hip dis... |
ORPHA:3412 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Microphthalmia, ... |
OMIM:614833 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Epicanthus, Short stature, Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand f... |
OMIM:617101 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Nephritis, Thrombocytopenia |
ORPHA:3327 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Cataract, Hyperpigmentation of the skin, Interstitial pneum... |
ORPHA:454831 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen... |
ORPHA:100026 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Abnormal repetitive mannerisms, Recurrent hand flapping, Short stature, Dysphagia |
OMIM:617862 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
| Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
| Cri-Du-Chat Syndrome |
|
Epicanthus, Cataract, Hypospadias, Hyperactivity, Aggressive behavior, Cryptorchidism, Abnormal r... |
OMIM:123450 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:177901 |
| Braddock-Carey Syndrome 1 |
|
Curly hair, Telecanthus, Growth delay, Sparse hair, Downslanted palpebral fissures, Thrombocytopenia |
OMIM:619980 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Lymphadenopathy, Microcytic anemia |
OMIM:618852 |
| Coffin-Siris Syndrome 2 |
|
Sparse scalp hair, Absent fifth fingernail, Hyperactivity, Short stature, Cryptorchidism, Low ant... |
OMIM:614607 |
| Albinism, Ocular, With Late-Onset Sensorineural Deafness |
|
Giant melanosomes in melanocytes, Albinism |
OMIM:300650 |
| Pediatric-Onset Graves Disease |
|
Episcleritis, Hyperactivity, Abnormal eyelid morphology, Keratitis, Splenomegaly, Thyrotoxicosis ... |
ORPHA:525731 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Ulnar deviation of finger, Mitral... |
ORPHA:1101 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Hypermelanotic macule, Keratitis, Conjunctivitis, Ectropion |
OMIM:278700 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Hyperpigmentation of the skin, Anemia |
ORPHA:75563 |
| Lassa Fever |
|
Menometrorrhagia, Conjunctivitis, Dysphagia |
ORPHA:99824 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Splenomegaly, Recurrent pneumonia, Self-injurious behavior, Downslanted palpebral fissures, Abnor... |
OMIM:615637 |
| Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Lymphopenia, Atopic dermatitis, Thrombocyt... |
OMIM:618624 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Nail dystrophy, Trichodysplasia... |
ORPHA:2890 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Epicanthus, Telecanthus, Sparse eyelashes, Short stature, Sparse eyebrow, Cryp... |
ORPHA:75496 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Calcaneovalgus deformity, Agenesis of corpus callosum, Dandy-Walker malformation, Fin... |
OMIM:256520 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:95513 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Growth delay, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
| 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 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidis... |
ORPHA:514 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Short stature, Aggressive behavior, Pica, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Epicanthus, Telecanthus, Hyperactivity, Aggressive behavior, Almond-shaped palpebral fissure, Abn... |
OMIM:620292 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Relative macrocephaly, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey... |
ORPHA:294023 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia... |
ORPHA:363417 |
| Lead Poisoning |
|
Decreased female libido, Skin rash, Anorexia, Abnormality of the menstrual cycle, Imbalanced hemo... |
ORPHA:330015 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Microcephaly, Preaxial polydactyly, Bilateral talipes equ... |
OMIM:618142 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Syringomyelia, Cerebral cortical atrophy, Congenital bilateral hip dislocation |
ORPHA:404451 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Microcephaly, Polydactyly, Macrocephaly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Small nail, Aggressive behavior |
OMIM:619470 |
| Temtamy Syndrome |
|
Aortic regurgitation, Hip dislocation, Thick corpus callosum, Short 2nd toe, Talipes equinovarus,... |
OMIM:218340 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, B lymphocytopenia, Recurrent sinusitis, Neut... |
OMIM:601495 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Telecanthus, Corneal opacity, Hypospadias, Short stature, Cryptorchidism, Hirsutism, Leukopenia, ... |
OMIM:301056 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Anorexia, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:824 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth dela... |
OMIM:301078 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Shukla-Vernon Syndrome |
|
Impulsivity, Aggressive behavior, Downslanted palpebral fissures, Attention deficit hyperactivity... |
OMIM:301029 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Rocker bottom foot, Coxa valga, Microcephaly, Basal ganglia calcificati... |
OMIM:214150 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Diabetes mellitus, Thrombocy... |
ORPHA:169105 |
| Bardet-Biedl Syndrome 19 |
|
Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Hypoplasia of the ... |
OMIM:615996 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Epicanthus, Cataract, Short stature, Upslanted palpebral fissure, Iron deficiency anemia, Hypothy... |
OMIM:607906 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnormality of the parathy... |
ORPHA:2969 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
| Myh9-Related Disease |
|
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Menorrhagia, Presen... |
ORPHA:182050 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Growth delay, Short stature, Thrombocytopenia |
OMIM:614727 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Epicanthus, Hyperactivity, Short stature, Highly arched eyebrow, Aggressive behavior, Downslanted... |
OMIM:618342 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Epicanthus, Telecanthus, Thrombocytopenia, Synophrys, Recurrent pneumonia, Splenomegaly, Low ante... |
OMIM:617303 |
| Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:289390 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia, Ptosis |
OMIM:188025 |
| Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Lymphadenopathy, Patch... |
OMIM:615387 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, H... |
ORPHA:98850 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Bitot spots of the conjunctiva |
OMIM:277350 |
| Ring Chromosome 21 Syndrome |
|
Syndactyly, Microcephaly, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly |
ORPHA:1445 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl... |
OMIM:305600 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Polydactyly |
OMIM:616490 |
| Holoprosencephaly |
|
Encephalocele, Anophthalmia, Microcephaly, Hydrocephalus, Spinal cord tumor, Aplasia/Hypoplasia o... |
ORPHA:2162 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia |
ORPHA:195 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
| Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Primary microcephaly, Hypoplasia of the corpus callosum, Camptodactyly, Micro... |
OMIM:618804 |
| Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Finger clinodactyly, Absent distal... |
ORPHA:1692 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum |
ORPHA:99742 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Hypermelanotic macule, Short stature, Minimal change glomerulonephritis, Abnorma... |
ORPHA:1830 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Atransferrinemia |
|
Hypochromic anemia |
OMIM:209300 |
| 3P25.3 Microdeletion Syndrome |
|
Cerebral white matter atrophy, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapere... |
ORPHA:435638 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Abnormality of the clitoris, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
| Birk-Barel Syndrome |
|
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula |
OMIM:612292 |
| Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... |
OMIM:617926 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Secondary microcephaly, Cerebellar hypoplasia |
OMIM:613730 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Abnormality... |
ORPHA:2552 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Epicanthus, Hyperactivity, Aggressive behavior, Sparse eyebrow, Synophrys, Hyposegmen... |
OMIM:620075 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of t... |
ORPHA:370959 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Microcephaly, Aniridia, Biparietal narrowing, Macrocephaly, Camptodac... |
ORPHA:251038 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Intrauterine growth retardation, Thrombocytopenia |
OMIM:610333 |
| Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
| Transaldolase Deficiency |
|
Pancytopenia, Clitoral hypertrophy, Splenomegaly, Synophrys, Hepatosplenomegaly, Anemia, Intraute... |
OMIM:606003 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Epicanthus, Telecanthus, Short stature, Decreased response to growth hormone stimulation test, Hy... |
OMIM:615286 |
| Lymphedema-Distichiasis Syndrome |
|
Cataract, Recurrent skin infections, Ectropion, Diabetes mellitus, Corneal erosion, Tubulointerst... |
ORPHA:33001 |
| Mogs-Cdg |
|
Alopecia, External genital hypoplasia, Hypothyroidism, Hirsutism, Hepatosplenomegaly, Hydrocele t... |
ORPHA:79330 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Hydrocephalus, Polydacty... |
ORPHA:59315 |
| Diamond-Blackfan Anemia 21 |
|
Unilateral ptosis, Short stature, Erythroid hypoplasia, Synophrys, Thrombocytopenia, Widow's peak... |
OMIM:620072 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
| Myotonic Dystrophy 1 |
|
Cataract, Frontal balding, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, T... |
OMIM:160900 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Martsolf Syndrome 1 |
|
Short metacarpal, Cardiac arrest, Microcephaly, Metatarsus adductus, Slender ulna, Short toe, Ost... |
OMIM:212720 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Growth delay, Pigmentary retinopathy, Neutropenia, Stomatitis, Intrauterine... |
ORPHA:79282 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Intrauterine growth retardation, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Monosomy 18P |
|
Microcephaly, Hypertension, Holoprosencephaly, Microphthalmia, Brachydactyly |
ORPHA:1598 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Eczema, Growth delay, Self-injurious behavior, Attention defi... |
ORPHA:79254 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Cerebral cortical atrophy, Camptodactyly of finger |
ORPHA:48431 |
| Warburg Micro Syndrome 2 |
|
Overlapping toe, Microcephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Global ... |
OMIM:614225 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Eczema, Thrombocytopenia, Hydrocele testis, Increased serum testosterone level, Intrauterine grow... |
ORPHA:96181 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function, Cerebellar hypoplasia |
OMIM:618805 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Absent radius, Aplasia of ... |
ORPHA:1352 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Cholecystitis, Nonspherocy... |
OMIM:235700 |
| Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Fanconi Anemia |
|
Abnormal eyelid morphology, Abnormality of skin pigmentation, Leukopenia, Abnormality of the uter... |
ORPHA:84 |
| Reynolds Syndrome |
|
Skin rash, Arthritis, Keratoconjunctivitis sicca, Dysphagia, Irregular hyperpigmentation, Infecti... |
ORPHA:779 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Abnormal vagina morphology, Anemia |
ORPHA:2123 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Telecanthus, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity di... |
OMIM:619927 |
| Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Microcephaly, Hydrocephalus, Hip dysplasia, Hypoplasia of th... |
OMIM:616362 |
| Arboleda-Tham Syndrome |
|
Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Bilateral cryptorchidism, Abnormal rep... |
OMIM:616268 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Hypothyroidism, Arthritis, Infert... |
ORPHA:465508 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Diffuse cerebral atrophy, Bilateral microphthalmos, Microcephaly |
ORPHA:77299 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Tricuspid regurgitation, Abnormality of the palmar creases, Secondary microcephaly |
OMIM:618652 |
| Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... |
ORPHA:2369 |
| Preeclampsia |
|
Type I diabetes mellitus, Intrauterine growth retardation, Thrombocytopenia, Polycystic ovaries |
ORPHA:275555 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Paroxysmal atrial fibrillation, Down-sloping shoulders, First degree atriovent... |
ORPHA:392 |
| Farber Disease |
|
Corneal opacity, Short stature, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Arthritis,... |
ORPHA:333 |
| Joubert Syndrome 33 |
|
Syndactyly, Macrocephaly |
OMIM:617767 |
| Plummer-Vinson Syndrome |
|
Geophagia, Concave nail, Cheilitis, Hypochromic microcytic anemia, Iron deficiency anemia, Dysphagia |
ORPHA:54028 |
| Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho... |
ORPHA:99429 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Granulomatosis, Conjunctivitis, Chronic otitis media |
OMIM:608710 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Pituitary Apoplexy |
|
Ptosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Re... |
ORPHA:95613 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Hypoplasia of the iris, Nail dysplasia, Thrombocyto... |
OMIM:612783 |
| Niemann-Pick Disease, Type A |
|
Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue... |
OMIM:257200 |
| Frontorhiny |
|
Encephalocele, Pericallosal lipoma, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus cal... |
ORPHA:391474 |
| Joubert Syndrome 7 |
|
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Hypoplasia of the ... |
OMIM:611560 |
| N-Acetylaspartate Deficiency |
|
Abnormal repetitive mannerisms, Short stature, Self-mutilation |
OMIM:614063 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Bilateral cryptorchidism, Repetitive compulsive behavior, Hypochromic microc... |
ORPHA:66634 |
| Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the cor... |
OMIM:614643 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Ova... |
ORPHA:2221 |
| Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Lissencephaly, Microphthalmia, Pachygyria, Agenesis of corpus callosum |
OMIM:614583 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, Salt craving, S... |
ORPHA:95409 |
| Alazami Syndrome |
|
Abnormal eating behavior, Sparse eyebrow, Postnatal growth retardation, Stereotypical hand wringi... |
ORPHA:319671 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Compulsive behaviors, Micropenis... |
ORPHA:398069 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hyperpigmentation of the skin, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
| Sirenomelia |
|
Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia |
ORPHA:3169 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Aarskog-Scott Syndrome |
|
Testicular atrophy, Short stature, Elevated circulating luteinizing hormone level, Bilateral cryp... |
OMIM:305400 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Splenomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production |
OMIM:612714 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Postaxial hand po... |
OMIM:610829 |
| Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Ulnar bowing, Shorte... |
OMIM:619135 |
| Rotor Syndrome |
|
Conjunctival icterus |
ORPHA:3111 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Anemia, Decreased circulating T4 concentration, Intrauterine growth retardation, ... |
OMIM:608104 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Microcephaly, Triphalangeal thumb, Sh... |
ORPHA:2994 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
| Bloom Syndrome |
|
Paronychia, Uveitis, Otitis media, Hypopigmentation of the skin, Decreased proportion of CD4-posi... |
ORPHA:125 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Epicanthus, Bilateral ptosis, Synophrys, Upslanted palpebral fissure, Coarse hair, Br... |
OMIM:616351 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial... |
OMIM:619879 |
| Radio-Tartaglia Syndrome |
|
Epicanthus, Highly arched eyebrow, Long eyebrows, Precocious puberty, Abnormal repetitive manneri... |
OMIM:619312 |
| Sarcoidosis |
|
Increased T cell count, Uveitis, Tubulointerstitial nephritis, Leukopenia, Hypopigmentation of th... |
ORPHA:797 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Microcephaly |
OMIM:615284 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Porencephalic cyst, Flared met... |
OMIM:252100 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Short stature, Microcytic anemia, Hepatosplenomegaly, Hypopituitarism, Hypothyroidism |
OMIM:619013 |
| Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Brachydactyly |
OMIM:602361 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Short stature, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, ... |
ORPHA:1791 |
| Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Eczema, Microcytic anemia |
ORPHA:79278 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... |
OMIM:609945 |
| Fanconi Anemia, Complementation Group V |
|
Short stature, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
OMIM:617243 |
| Galloway-Mowat Syndrome 6 |
|
Epicanthus, Short stature, Decreased response to growth hormone stimulation test, Hypothyroidism,... |
OMIM:618347 |
| Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye... |
OMIM:167730 |
| Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia, Goiter |
OMIM:274240 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Cataract, Skin rash, Short stature, Fluctuating splenomegaly, Thro... |
OMIM:610377 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Xanthelasma, Corneal arcus, Sto... |
OMIM:210250 |
| Reni Syndrome |
|
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Lymphopenia, Hypothyroidism, Hyp... |
OMIM:617575 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Overlapping toe, Single transverse palmar crease, Tapered finger, Microcephaly, Sh... |
OMIM:619148 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Clinodactyly, Proximal placement of thumb, Microcephaly |
OMIM:617883 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Retinal telangiectasia, Postnatal growth retardation, Fine hair, Premature graying... |
OMIM:612199 |
| Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
| Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Large hands, Talipes equinovarus, Macroce... |
ORPHA:3447 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Broad hallux, Single transverse palmar crease, Microcephaly, Hypoplasia of the corpus callosum, M... |
OMIM:614105 |
| Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Cataract, Conjunctivitis, Chronic mucocutaneous candidiasis |
ORPHA:36913 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Iris hypopigmentation, Short stature, Crypto... |
ORPHA:2719 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb |
ORPHA:1825 |
| Pseudohypoparathyroidism Type 1C |
|
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
ORPHA:79444 |
| Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo... |
ORPHA:167 |
| Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Abnormal ey... |
ORPHA:647 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Hypospadias, Aggressive behavior, Sparse eyebrow, Cryptorchid... |
ORPHA:495875 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Microcephaly, Short first metatarsal, Short 5th toe, Prominent fingerti... |
OMIM:613684 |
| Crimean-Congo Hemorrhagic Fever |
|
Acute pancreatitis, Neutrophilia, Pancytopenia, Anorexia, Erythema nodosum, Myocarditis, Orchitis... |
ORPHA:99827 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe syndactyly, Posta... |
OMIM:264480 |
| Kawasaki Disease |
|
Pericarditis, Abnormality of nail color, Skin rash, Myocarditis, Leukocytosis, Cervical lymphaden... |
ORPHA:2331 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Agel Amyloidosis |
|
Cataract, Bilateral ptosis, Keratoconjunctivitis sicca, Blepharochalasis, Abnormal spleen morphol... |
ORPHA:85448 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Bilateral microphthalmos, Short foo... |
OMIM:607597 |
| Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms |
OMIM:617830 |
| Albinism, Oculocutaneous, Type V |
|
Albinism |
OMIM:615312 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Postaxial polydactyly, Tapered finger, Microcephaly, Genu valgum, Clinodactyly of... |
OMIM:619721 |
| Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... |
OMIM:169400 |
| Hallermann-Streiff Syndrome |
|
Abnormality of the hand, Microcephaly, Spina bifida, Metaphyseal widening, Telangiectasia, Slende... |
OMIM:234100 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Arachnodactyly, Microcephaly |
OMIM:619092 |
| Listeriosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Abscess, Pustule, Myocardit... |
ORPHA:533 |
| Bloom Syndrome |
|
Elevated hemoglobin A1c, Decreased fertility in females, Postnatal growth retardation, Cryptorchi... |
OMIM:210900 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Microcephaly, Hydrocephalus, Short foot, Hand polydactyly, ... |
ORPHA:250989 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical... |
ORPHA:2686 |
| Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hemolytic anemia |
ORPHA:529808 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
| Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hemolytic anemia |
ORPHA:529799 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Overfriendliness, Epicanthus, Hyperactivity, Short stature, Restlessness, Aggressive behavior, Cr... |
ORPHA:369891 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis, Normochromic anemia, Cholelithiasis, Thrombocytopenia, Intrauterine growth reta... |
OMIM:618775 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, Lymphocytosis,... |
OMIM:308240 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Epicanthus, Telecanthus, Hypoplasia of penis, Abnormal hemoglobin, Ambiguous genitalia, Short sta... |
ORPHA:847 |
| Pilarowski-Bjornsson Syndrome |
|
Almond-shaped palpebral fissure, Postnatal growth retardation, Abnormal repetitive mannerisms, Lo... |
OMIM:617682 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Cor... |
OMIM:148210 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Cholelithiasis |
OMIM:300752 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Short stature, Rhizomelia, Postnatal growth retardation, Cryptorchidism, Giant plate... |
OMIM:611209 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... |
ORPHA:2788 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
OMIM:300845 |
| Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
| Chromomycosis |
|
Keratitis, Hypopigmented skin patches, Keratoconjunctivitis sicca, Eyelid retraction, Ectropion |
ORPHA:182 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... |
OMIM:616084 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
| Campomelic Dysplasia |
|
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... |
OMIM:114290 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Broad hallux, Sandal gap, Microcephaly, 2-3 toe cutaneous syndactyly, Phthisis bulb... |
OMIM:300166 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Almond-shaped palpebral fissure, Postnatal growth retardation, Downslanted palpebral fissures, Ab... |
ORPHA:529965 |
| Aland Island Eye Disease |
|
Astigmatism, Albinism |
OMIM:300600 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Opti... |
OMIM:607323 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Global brain atrophy, Microcephaly |
OMIM:308350 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Telecanthus, Precocious puberty, Cryptorchidism, Hirsutism, Upslanted palpebral fissure, Labial h... |
OMIM:620073 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Growth delay, Anemia |
OMIM:611490 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Epicanthus, Hyperactivity, Hypospadias, Hyperopic astigmatism, Fine hair, Upslanted palpebral fis... |
ORPHA:363686 |
| 2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Hypospadias, Eczema, Highly arched eyebrow, Synophrys, Recurrent pneumonia, Recurr... |
OMIM:617751 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Rhizomelia, Car... |
ORPHA:175 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Hypothyroidism, Low anterior ... |
OMIM:617796 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Fg Syndrome 3 |
|
Hyperactivity, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair |
OMIM:300406 |
| Cog4-Cdg |
|
Growth delay, Thick hair, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Neu-Laxova Syndrome |
|
Cerebral calcification, Absent septum pellucidum, Micromelia, Abnormal cortical gyration, Microce... |
ORPHA:2671 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty, Abnormality of skin pigmentation, Hyperactivity, Aggressive behavior |
ORPHA:457260 |
| Pseudohypoparathyroidism Type 1A |
|
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
ORPHA:79443 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea... |
OMIM:607932 |
| Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Short stature, Thrombocytopenia |
OMIM:231000 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Relative macrocephaly, Macrocephaly, Clinodactyly of the 5th finger, Microphthalmia, Cavum septum... |
OMIM:617306 |
| Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
| Squalene Synthase Deficiency |
|
Epicanthus, Hypospadias, Bilateral cryptorchidism, Abnormality of hair pigmentation, Intrauterine... |
OMIM:618156 |
| 4Q21 Microdeletion Syndrome |
|
Synophrys, Growth delay, Self-injurious behavior, Long eyelashes, Intrauterine growth retardation... |
ORPHA:238750 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Anemia, Bilateral ptosis, Sideroblastic anemia, Leukopenia |
OMIM:255125 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
| 16P12.1P12.3 Triplication Syndrome |
|
Unilateral ptosis, Nail-biting, Epicanthus, Hyperactivity, Decreased response to growth hormone s... |
ORPHA:485405 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Epicanthus, Hyperactivity, Aggressive behavior, Cryptorchidism, Synophrys, Upslanted palpebral fi... |
OMIM:615824 |
| Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Camptodactyly of finger, Microcephaly, Cerebral atrophy, Hypoplasia... |
OMIM:616920 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, Flattened epiphysis, Flat acetabular roof, Hemiatrophy of u... |
ORPHA:163649 |
| Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Short stature, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal repetitive ... |
OMIM:619435 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopathy, Myeloprol... |
ORPHA:3226 |
| Gaucher Disease Type 1 |
|
Pancytopenia, Anorexia, Hypersplenism, Splenomegaly, Osteoarthritis, Anemia, Leukopenia, Growth d... |
ORPHA:77259 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... |
OMIM:259710 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Hypospadias, Almond-shaped palpebral fissure, Epiblepharon, Cryptorchidism, Abnormal repetitive m... |
OMIM:619103 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Spina bifida, Preaxial hand polydactyly, Abnormal hip... |
ORPHA:261318 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Highly arched eyebrow, Aggressive behavior, Downslanted palpebral fissures, Attention deficit hyp... |
OMIM:618825 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
| Stevenson-Carey Syndrome |
|
Hip dysplasia, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Camptodactyly, Microphth... |
OMIM:611961 |
| Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Alopecia, Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Eyelid ... |
OMIM:613001 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cryptorchidism, Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, St... |
OMIM:618917 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Jacobsen Syndrome |
|
Epicanthus, Telecanthus, Hypospadias, Abnormal eyelash morphology, Cryptorchidism, Nasolacrimal d... |
OMIM:147791 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly |
OMIM:619318 |
| Blue Rubber Bleb Nevus |
|
Skin rash, Microcytic anemia |
ORPHA:1059 |
| Rothmund-Thomson Syndrome Type 1 |
|
Premature ovarian insufficiency, Aplastic anemia, Hyperpigmentation of the skin, Alopecia totalis... |
ORPHA:221008 |
| Filippi Syndrome |
|
Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous syndactyly, Finger c... |
OMIM:272440 |
| Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Myositis, Alopecia, Skin rash, Discoid lupus rash, Lymphadenopathy, Arthritis, Leuko... |
ORPHA:93552 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Hyperactivity, Hypospadias, Cryptorchidism, Hypopigmented skin patches, Cafe-au-lait ... |
ORPHA:457485 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism |
OMIM:619150 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Abnormal size of the palpebral fissures, Eczema, Highly arched eyebrow, Hyposp... |
ORPHA:500159 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
| Fetal Gaucher Disease |
|
Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Ectropion |
ORPHA:85212 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Cryptorchidis... |
OMIM:616737 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Pericarditis, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Baker-Gordon Syndrome |
|
Self-injurious behavior, Epicanthus, Abnormal repetitive mannerisms |
OMIM:618218 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Short stature, Abnormality of the thyroid gland, Synophrys, Self hugging, Head-ban... |
OMIM:182290 |
| Joubert Syndrome 37 |
|
Microphthalmia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Postaxial polyda... |
OMIM:619185 |
| Coffin-Siris Syndrome 7 |
|
Sparse scalp hair, Epicanthus, Hyperactivity, Short stature, Severe temper tantrums, Abnormal rep... |
OMIM:618027 |
| Isolated Congenital Alacrima |
|
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Sandal gap, Tapered finger |
ORPHA:1438 |
| Oculofaciocardiodental Syndrome |
|
Short thumb, Broad palm, 2-3 toe syndactyly, Genu valgum, Hammertoe, Flexion contracture of the 2... |
ORPHA:2712 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Lymphadenopathy, B lym... |
OMIM:618048 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Conjunctival ... |
ORPHA:447 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Menometrorrhagia, Partial albinism, Abnormality of thrombocyt... |
ORPHA:79430 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Skin rash, Aplastic anemia, Maculopapular exanthema, Thrombocytop... |
ORPHA:398124 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Epicanthus, Short stature, Aggressive behavior, Almond-shaped palpebral fissure, Self... |
OMIM:300986 |
| Barth Syndrome |
|
Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic microcytic anemia, Growth dela... |
OMIM:302060 |
| Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ce... |
OMIM:277170 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Relative macrocephaly, Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, C... |
ORPHA:397590 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Hypop... |
OMIM:236500 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalus, Buphthalmos, Hypoplasia of t... |
OMIM:616538 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Proximal placement of thumb, Microcephaly, Spina bifida, Partial ag... |
OMIM:304050 |
| Chromosome 5P13 Duplication Syndrome |
|
Epicanthus, Blepharophimosis, Low posterior hairline, Upslanted palpebral fissure, Self-injurious... |
OMIM:613174 |
| Macrocephaly-Developmental Delay Syndrome |
|
Palpebral edema, Abnormal repetitive mannerisms, Recurrent pneumonia, Hepatosplenomegaly, Narrow ... |
ORPHA:397612 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
| Crouzon Syndrome |
|
Keratitis, Conjunctivitis, Dysgerminoma, Shallow orbits |
OMIM:123500 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
| Incontinentia Pigmenti |
|
Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic, patch... |
OMIM:308300 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Arrhythmia, Bilateral single transverse palmar creases, Synostosis of carpal bones |
ORPHA:3191 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Microcephaly, Radioulnar synostosis, Hypoplasia of the brainstem, Talipes equinov... |
OMIM:248700 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
| Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Thrombocytopenia |
OMIM:612952 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Epicanthus, Hypospadias, Postnatal growth retardation, Cryptorchidism, Abnormal repetitive manner... |
OMIM:301040 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Epicanthus, Aggressive behavior, Abnormal repetitive mannerisms, Synophrys, Low anterior hairline... |
OMIM:617061 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Microcephaly, Deviation of t... |
ORPHA:464738 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Clubbing of fingers, Tachycardia, Internal hemorrhage |
ORPHA:335 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
| Intermediate Osteopetrosis |
|
Thrombocytopenia, Osteomyelitis, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Propionic Acidemia |
|
Pancytopenia, Short stature, Eczema, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:606054 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Thick hair, Abnormal eyelid morphology, Abnor... |
ORPHA:193 |
| Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Entropion, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovasculariz... |
OMIM:278730 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent septum pellucidum, Absent thumb, Microcephaly, Short thumb, Hypopl... |
OMIM:609053 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Proportionate short stature, Uveitis, Developmental cataract, Self-injurious behavior, Compulsive... |
OMIM:617044 |
| Macrophage Activation Syndrome |
|
Increased inflammatory response, Thrombocytopenia, Splenomegaly, Abnormal natural killer cell cou... |
ORPHA:158061 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Microcytic anemia, Short stature, Ptosis |
OMIM:612073 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Hypothyroid... |
ORPHA:37042 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina bifida, Short toe, Hip dislocation... |
ORPHA:2308 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Epicanthus, Short stature, Decreased response to growth hormo... |
OMIM:619004 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Cataract, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Hepa... |
ORPHA:728 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Hereditary Acrokeratotic Poikiloderma |
|
Short stature, Eczema, Abnormal preputium morphology, Pustule, Hypopigmented skin patches, Kerato... |
ORPHA:2907 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Hepatitis, Onycholysis, Pte... |
ORPHA:525 |
| Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Keratoconjunctivitis sicca |
ORPHA:91138 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:69077 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... |
OMIM:616331 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| African Trypanosomiasis |
|
Pericarditis, Alopecia, Abnormality of the menstrual cycle, Keratitis, Myocarditis, Splenomegaly,... |
ORPHA:3385 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hydrocephalus |
ORPHA:251046 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Cataract, Short stature, Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm ... |
ORPHA:508542 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
| Baraitser-Winter Syndrome 1 |
|
Microcephaly, Duplication of phalanx of hallux, Lissencephaly, Microphthalmia, Aortic valve steno... |
OMIM:243310 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Developmental And Epileptic Encephalopathy 64 |
|
Epicanthus, Highly arched eyebrow, Sparse eyebrow, Low anterior hairline, Self-injurious behavior... |
OMIM:618004 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Recurrent pneumonia, Abnormal axonemal organization o... |
OMIM:613807 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia |
OMIM:620192 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Thrombocytopenia, Self-injurious behavior, Sacral hypertrichosis, Abnormal... |
ORPHA:457351 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Cataract, Severe B lymphocytopenia, Thrombocytopenia, Cryptorchidism, Severe po... |
OMIM:620005 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
| Foxg1 Syndrome |
|
Short stature, Severe postnatal growth retardation, Bruxism, Abnormal repetitive mannerisms, Paro... |
ORPHA:561854 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra... |
OMIM:304120 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:609425 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Anorexia, Thrombocytopenia, Reticulocyto... |
OMIM:557000 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of skin pigmentation, Nail dysplasia, Primary hypo... |
OMIM:225050 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
| Tenorio Syndrome |
|
Telecanthus, Recurrent pneumonia, Keratoconjunctivitis sicca, Recurrent aphthous stomatitis, Hypo... |
OMIM:616260 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, Overlapping toe, Cerebral atrophy, Hip dysplasia, Hypoplasia of the... |
OMIM:618494 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Abnormality of the nail |
ORPHA:621 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia, Eosinophili... |
ORPHA:331206 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Cataract, Postnatal growth retardation, Coarse hair, Nail dysplasia, Shallow orbits, Intrauterine... |
OMIM:612394 |
| Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:611783 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Syndactyly, Microcephaly |
ORPHA:1942 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasi... |
OMIM:617895 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Microcephaly, Hand polydactyly, Broad thumb |
OMIM:239710 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Inappropriate laughter, Dys... |
ORPHA:411511 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental... |
OMIM:620141 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Encephalocele, Optic nerve hypoplasia, Preaxial po... |
OMIM:603671 |
| Autism, Susceptibility To, X-Linked 2 |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:300495 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Recurrent skin infections, Blepharophimosis, Repetitive compulsive behavior, H... |
ORPHA:391372 |
| Coffin-Siris Syndrome 6 |
|
Epicanthus, Short stature, Abnormal repetitive mannerisms, Narrow palpebral fissure, Tics, Attent... |
OMIM:617808 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Neutropenia, Hypothyroidism, Hypoparathyro... |
ORPHA:699 |
| Seckel Syndrome 1 |
|
Pancytopenia, Hyperactivity, Hypospadias, Proportionate short stature, Postnatal growth retardati... |
OMIM:210600 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Synophrys, Hypopigmented skin... |
ORPHA:3440 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Severe periodontitis, Palpebral edema, Short stature, Microcytic anemia, Keratitis,... |
ORPHA:99843 |
| Brucellosis |
|
Liver abscess, Anorexia, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis, ... |
ORPHA:1304 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo... |
OMIM:619644 |
| Rauch-Steindl Syndrome |
|
Telecanthus, Epicanthus, Short stature, Hyperactivity, Highly arched eyebrow, Aggressive behavior... |
OMIM:619695 |
| Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Microcephaly |
OMIM:257910 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Microcephaly, Spinal dysraphism, Aortic valve stenosis, Mitral stenosis |
OMIM:617660 |
| Hermansky-Pudlak Syndrome 6 |
|
Abnormal platelet granules, Albinism, Impaired ADP-induced platelet aggregation, Ocular albinism,... |
OMIM:614075 |
| Angelman Syndrome |
|
Keratoconus, Hyperactivity, Iris hypopigmentation, Precocious puberty in females, Aggressive beha... |
ORPHA:72 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Downslanted palpebral fissures, Increased mean platelet volume |
OMIM:300048 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Vici Syndrome |
|
Hypopigmentation of the skin, Epicanthus, Cataract, Hypopigmentation of hair, Albinism, Postnatal... |
OMIM:242840 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Epicanthus, Telecanthus, Hyperactivity, Hypermelanotic macule, Cryptorchidism, Hypoplastic nipple... |
OMIM:618505 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa... |
ORPHA:3103 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Hypermelanotic macule, Thrombocytopenia |
OMIM:112200 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Triploidy |
|
Finger syndactyly, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holopro... |
ORPHA:3376 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Epicanthus, Telecanthus, Hypoplasia of penis, Small scrotum, Multiple pterygia, Abnormal eyelid m... |
ORPHA:2990 |
| Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Portal hypertension, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Cataract, Abnormal repetitive mannerisms |
OMIM:617393 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:617907 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Abnormal palmar dermatoglyphics, Heart murmur, Microcephaly |
ORPHA:2728 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Bone marrow hypocellularity, Small nail, Neutropenia, Thrombocytopenia |
OMIM:614520 |
| Cloacal Exstrophy |
|
Spina bifida, Abnormal tibia morphology, Myelomeningocele, Absent foot, Hip dislocation, Abnormal... |
ORPHA:93929 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Microcephaly, Cortical dysplasia, Hypertension, Pulmonary arterial... |
OMIM:100300 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Sandal gap, Macrodactyly, Spinal dysraphism |
OMIM:612918 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
| Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Abnormal conjunctiva morphology |
OMIM:602248 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus... |
OMIM:206900 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
| Oculoectodermal Syndrome |
|
Epicanthus, Hyperactivity, Supernumerary nipple, Hyperpigmented streaks, Pineal cyst, Microcornea... |
OMIM:600268 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Aggressive behavior, Growth delay, Attention deficit hyperactivity disorde... |
OMIM:619121 |
| Lymphedema-Distichiasis Syndrome |
|
Ectropion, Yellow nails, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Corneal ulcera... |
OMIM:153400 |
| Rubinstein-Taybi Syndrome |
|
Telecanthus, Epicanthus, Short stature, Highly arched eyebrow, Cryptorchidism, Nasolacrimal duct ... |
ORPHA:783 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Microcephaly, Tapered finger, Macular hypoplasia |
OMIM:613792 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Cerebral atrophy, Pulmonary ar... |
OMIM:616449 |
| Immunodeficiency 40 |
|
Recurrent pneumonia, Eosinophilic granuloma, Growth delay, T lymphocytopenia, Interstitial pneumo... |
OMIM:616433 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic anemia, Pustule... |
ORPHA:77297 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
| Klippel-Trénaunay Syndrome |
|
Abnormality of the menstrual cycle, Microcytic anemia |
ORPHA:90308 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Anemia, Malar rash, Serositis, Thrombocytopenia |
ORPHA:231111 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
| Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur... |
OMIM:613266 |
| Kapur-Toriello Syndrome |
|
Single transverse palmar crease, Camptodactyly of finger, Pachygyria, Short thumb, Microphthalmia... |
OMIM:244300 |
| Oculocutaneous Albinism Type 1 |
|
White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme... |
ORPHA:352731 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac... |
OMIM:619451 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis... |
ORPHA:292 |
| Warburg Micro Syndrome 3 |
|
Microcephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Clinodactyly of the 5th ... |
OMIM:614222 |
| Oculo-Palato-Cerebral Syndrome |
|
Microcephaly, Small hand, Aplasia/Hypoplasia of the corpus callosum, Short foot, Microphthalmia, ... |
ORPHA:2714 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Microcephaly, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Cerebellar hypopl... |
OMIM:612530 |
| Atelis Syndrome 2 |
|
Epicanthus, Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyp... |
OMIM:620185 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Recurrent otitis media, Asplenia, Male infertility |
OMIM:618948 |
| Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Anorexia, Keratitis, Lympha... |
ORPHA:31204 |
| Incontinentia Pigmenti |
|
Uveitis, Abnormality of skin pigmentation, Abnormal toenail morphology, Infectious encephalitis, ... |
ORPHA:464 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypopla... |
OMIM:616113 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcephaly, Congestive heart failure, Upper limb asymmetry, Umbilical hernia, Microphthalmia |
ORPHA:2505 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Keratitis, Entropion, Conjunctivitis, Ectropion |
OMIM:278740 |
| Refsum Disease |
|
Short metacarpal, Heart block, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology, Micropht... |
ORPHA:773 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Microcephaly, Holoprosencephaly, Hypoplasia o... |
ORPHA:1587 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Abnormal cortical gyration, Microce... |
OMIM:219000 |
| Pseudohypoparathyroidism Type 1B |
|
Cataract, Short stature, Decreased response to growth hormone stimulation test, Pseudohypoparathy... |
ORPHA:94089 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
| Kikuchi-Fujimoto Disease |
|
Alopecia, Generalized lymphadenopathy, Skin rash, Palpebral edema, Anorexia, Pustule, Myocarditis... |
ORPHA:50918 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m... |
OMIM:618529 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Relative macrocephaly, Encephalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Pre... |
OMIM:616300 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... |
OMIM:609638 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Short stature, Bilateral ptosis, Cryptorchidism, Upslanted palpe... |
ORPHA:163979 |
| Noonan Syndrome 14 |
|
Curly hair, Epicanthus, Lacrimal duct stenosis, Short stature, Sparse eyebrow, Cryptorchidism, Lo... |
OMIM:619745 |
| Wiedemann-Steiner Syndrome |
|
Epicanthus, Telecanthus, Thick eyebrow, Decreased response to growth hormone stimulation test, Sh... |
ORPHA:319182 |
| Letterer-Siwe Disease |
|
Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Stomatitis, Anemia |
OMIM:246400 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Microcephaly |
ORPHA:544254 |
| Dubowitz Syndrome |
|
Sparse scalp hair, Epicanthus, Telecanthus, Aplastic anemia, Eczema, Hypospadias, Short stature, ... |
OMIM:223370 |
| Desbuquois Dysplasia 2 |
|
Relative macrocephaly, Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, M... |
OMIM:615777 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... |
ORPHA:1515 |
| Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Viral hepatitis, Ectropion, Hyperpigmentation of the skin, D... |
ORPHA:101330 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Epicanthus, Sparse scalp hair, Short stature, Eczema, Hyperactivity, Cryptorchidism, ... |
OMIM:607721 |
| Bainbridge-Ropers Syndrome |
|
Epicanthus, Highly arched eyebrow, Supernumerary nipple, Precocious puberty, Cryptorchidism, Syno... |
OMIM:615485 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Mic... |
OMIM:272950 |
| Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Skin rash, Aplastic anemia, Alopecia totalis, Sparse eyebrow, Short stature, Re... |
ORPHA:2909 |
| Christianson Syndrome |
|
Abnormal repetitive mannerisms, Inappropriate laughter, Thick eyebrow, Dysphagia |
ORPHA:85278 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Hydrocephalus, Telangiectasia, Polydactyly, Macrocephaly, ... |
ORPHA:93400 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... |
OMIM:308750 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Epicanthus, Hypospadias, Cryptorchidism, Repetitive compulsive behavior, Dysphagia, Upslanted pal... |
OMIM:300260 |
| Lathosterolosis |
|
Epicanthus, Cataract, Hypoplasia of penis, Anisopoikilocytosis, Abnormal platelet morphology, Mic... |
ORPHA:46059 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Synophrys, Fine hair, Growth delay, Abnormal repetitive mannerisms |
OMIM:619428 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease |
OMIM:619053 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Short stature, Pineal cyst, Iron deficiency anemia, Astigmatism, Downslanted palpebral fissures |
OMIM:618885 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Radioulnar synosto... |
ORPHA:1788 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... |
OMIM:212780 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:568 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Pneumonia, Curly eyelashes, Highly arched eyebrow, Short stature, Cryptorchidism, Sy... |
OMIM:122470 |
| Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thromb... |
ORPHA:83313 |
| Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Arrhythmia, Spina bifida, Hemiatrophy |
ORPHA:2874 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Enlarged lacrimal glands, Thyroiditis, Abnormality of the orbital regi... |
ORPHA:79078 |
| Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
| Ritscher-Schinzel Syndrome 2 |
|
Relative macrocephaly, Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinod... |
OMIM:300963 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Intrauterine growth retardation, Severe temper tantrums, Thrombocytopenia, Aggressive behavior |
OMIM:617710 |
| Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Lymphadenopathy... |
ORPHA:160 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Ano... |
ORPHA:49041 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly |
OMIM:601163 |
| Koolen-De Vries Syndrome |
|
Overfriendliness, Epicanthus, Cataract, Hypospadias, Hypopigmentation of hair, Short stature, Abn... |
ORPHA:96169 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Epicanthus, Pancytopenia, Splenomegaly, Growth delay, Inflammation of the large intestine, Intrau... |
OMIM:614576 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
ORPHA:177907 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Laterally extended eyebrow, Aggressive behavior, Synophrys, Low anterior hairline, Keratoconjunct... |
OMIM:618479 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Self-mutilation, Micropenis... |
ORPHA:457240 |
| White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta |
ORPHA:2475 |
| Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Splenomegaly, Synophrys, Coarse hair, Dysphagia, Hirsutism, Hypertrichosis |
OMIM:252930 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Joint contracture of the 5th f... |
OMIM:620098 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... |
ORPHA:79124 |
| Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Gastritis, Short stature, Increased mean platelet volume,... |
ORPHA:84064 |
| Pterygium Of Conjunctiva And Cornea |
|
Abnormal conjunctiva morphology, Pterygium |
OMIM:178000 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Preaxial polyd... |
OMIM:243605 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly |
OMIM:618727 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| 9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Syringomyelia, Polydactyly, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:531151 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Epicanthus, Hypoplasia of penis, Short stature, Hyperactivity, Abnormal hair pattern, Aggressive ... |
ORPHA:85293 |
| 5Q14.3 Microdeletion Syndrome |
|
Upslanted palpebral fissure, Abnormal repetitive mannerisms, Thick eyebrow |
ORPHA:228384 |
| Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Epicanthus, Cafe-au-lait spot, Aplastic anemia |
OMIM:610832 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Ectopia lentis, Melanocytic nevus, Keratoconjunctivitis sicca, Intrauterine growth retardation, D... |
OMIM:616914 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Cerebral calcification, Toe syndactyly, Arachnodactyly, Microcephaly, Short palm |
ORPHA:73246 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, Microcephaly, 2-3 toe syndactyly, Cutaneous syndactyl... |
OMIM:600987 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Macrocephaly, Aplasia/Hypoplasia of the cor... |
OMIM:617822 |
| Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Epicanthus, Mild postnatal growth retardation, Abnormal temper tantrums, Abnormal ... |
ORPHA:530983 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated cardiomyopathy, ... |
OMIM:253800 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microcephaly, Small hand, Short foot, Hypoplasia of the corpus callosum, Short palm, Microphthalmia |
OMIM:241410 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mi... |
ORPHA:3214 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
| Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Microcephaly, Vitreous hemorrhage, Retinal neovascularization, Microphtha... |
ORPHA:891 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Eczema, Abnormality of skin pigmentation, Sparse hair, Sparse bod... |
ORPHA:1810 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Inappropriat... |
ORPHA:98794 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Hypermelanotic macule, Iron deficiency anemia, Ovarian cyst, Precocious... |
OMIM:175200 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Single transverse palmar crease, Microcephaly, Tapered finger,... |
ORPHA:435938 |
| Dermatitis Herpetiformis |
|
Eczema, Microcytic anemia |
ORPHA:1656 |
| Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Le... |
OMIM:619488 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Hydrocephalus, Buphthalmos, Hy... |
OMIM:613150 |
| Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
| Suleiman-El-Hattab Syndrome |
|
Single transverse palmar crease, Microcephaly, Polydactyly, Clinodactyly, Brachydactyly |
OMIM:618950 |
| Relapsing Fever |
|
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Nasolacrimal duct obstruction, Hypogonadism, Hypoplastic nipples, Small nail, Sparse hair |
OMIM:273400 |
| Infant Botulism |
|
Ptosis, Anorexia, Keratoconjunctivitis sicca, Dysphagia, Chronic otitis media, Mydriasis |
ORPHA:178478 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... |
OMIM:618718 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Short stature, Oral-pharyngeal dysphagia, Hypothyroidism, Downslanted palpebral fi... |
OMIM:610883 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Hypothyroidism, Neutropenia, Ptosis |
OMIM:251900 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Bartsocas-Papas Syndrome |
|
Corneal opacity, Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Sp... |
ORPHA:1234 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal phalanx of fi... |
ORPHA:404440 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Skin rash, Maculopapular exanthema, Thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy,... |
ORPHA:540 |
| Isolated Sedoheptulokinase Deficiency |
|
Short stature, Hepatitis, Hypochromic microcytic anemia, Severe postnatal growth retardation, Sha... |
ORPHA:440713 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Chronic otiti... |
ORPHA:169090 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Cataract, Anorexia, Orchitis, Retr... |
ORPHA:117 |
| Abetalipoproteinemia |
|
Reticulocytosis, Abnormality of retinal pigmentation, Acanthocytosis, Keratoconjunctivitis sicca,... |
ORPHA:14 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Paroxysmal Hemicrania |
|
Restless legs, Diabetes mellitus, Palpebral edema, Rhinitis, Conjunctival hyperemia, Ptosis |
ORPHA:157835 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Pancytopenia, Alopecia, Anorexia, Phimosis, Urinary bladder inflammation, Bronchiectas... |
ORPHA:99921 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Cryptorchidism, Atopic dermatitis, Upper eyelid edema, Chronic otit... |
ORPHA:412035 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Short stature, Thrombocytopenia |
OMIM:616577 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Periorbital dermoid cyst, Conjunctivitis, Lacrimal duct stenosis |
OMIM:615560 |
| Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Epicanthus, Juvenile myelomonocytic leukemia,... |
OMIM:163950 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Epicanthus, Hyperactivity, Aggressive behavior, Postnatal growth retardation, Attention deficit h... |
OMIM:620242 |
| Biotinidase Deficiency |
|
Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis |
ORPHA:79241 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Cerebellar hypoplasia, Abnormal metacarpal morph... |
ORPHA:3224 |
| 22Q11.2 Duplication Syndrome |
|
Epicanthus, Abnormal repetitive mannerisms, Growth delay, Compulsive behaviors, Attention deficit... |
ORPHA:1727 |
| Quebec Platelet Disorder |
|
Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Tumoral Calcinosis, Normophosphatemic, Familial |
|
Conjunctivitis |
OMIM:610455 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Recurrent sinusitis, Chron... |
OMIM:612444 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate |
OMIM:609166 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Microcephaly, Small hand, Short palm, Clinodactyly of the 5th f... |
ORPHA:1786 |
| Immunodeficiency 22 |
|
Pericarditis, Abscess, Thrombocytopenia, Retinal vasculitis, Panniculitis, Chronic oral candidias... |
OMIM:615758 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Abnormality of the humerus... |
ORPHA:3186 |
| Aarskog-Scott Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Congestive heart fai... |
ORPHA:915 |
| Trichinellosis |
|
Skin rash, Central retinal artery occlusion, Anisocoria, Conjunctivitis, Dysphagia, Conjunctival ... |
ORPHA:863 |
| Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation of the large intestine,... |
ORPHA:29207 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Microcephaly, Hip dislocation, Simplified gyral pattern, Cerebral atrophy, Hypert... |
OMIM:617729 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Hypoplasia of the brainstem, Hypoplasia of ... |
OMIM:615636 |
| Alg8-Cdg |
|
Thrombocytopenia, Cataract, Anemia, Intrauterine growth retardation |
ORPHA:79325 |
| Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Arachnodactyly, Spina bifida, Microcephaly, Hydrocephalus, Meningoce... |
ORPHA:567 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Cerebellar hypoplasia, Microcephaly |
OMIM:618087 |
| Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Hypoplastic iliac wing, Prominent fingertip pads, Clinodactyly o... |
OMIM:180849 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Diabetes mellitus, Anemia, Leukopenia, Thrombocytopenia |
OMIM:613845 |
| Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Hand polydactyly,... |
ORPHA:401973 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Splenomegaly, Hypopigmented s... |
ORPHA:163746 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Monosomy 22 |
|
Epicanthus, Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Hypochromic microcytic anemi... |
ORPHA:96123 |
| 3Q29 Microdeletion Syndrome |
|
Microcephaly, Tapered finger, Pulmonary arterial hypertension, Macrocephaly, Clinodactyly of the ... |
ORPHA:65286 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Epicanthus, Short stature, Highly arched eyebrow, Postnatal gro... |
OMIM:613563 |
| Snakebite Envenomation |
|
Hypopituitarism, Neuromuscular dysphagia, Pseudobulbar paralysis, Thrombocytopenia |
ORPHA:449285 |
| Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Aplastic anemia, Growth delay, Hypogonadism, Intrauterine growth ... |
OMIM:300514 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Cataract, Short stature, Decreased response to growth hormone stimulation test, Growth delay, Cen... |
OMIM:616007 |
| Kleefstra Syndrome 1 |
|
Hypospadias, Aggressive behavior, Cryptorchidism, Synophrys, Upslanted palpebral fissure, Compuls... |
OMIM:610253 |
| Lacrimoauriculodentodigital Syndrome |
|
Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l... |
ORPHA:2363 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Micropenis, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Abnormal pupil morphology, Lentiglobus, Periodontitis, Compulsive behaviors,... |
ORPHA:534 |
| Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Hypertensio... |
OMIM:162200 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Leukopenia, Colitis, Bone marrow hypocellularity, Nail dystrophy, I... |
OMIM:615190 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Hyperactivity, Short stature, Aggressive behavior, Cryptorchidism, Upslanted palpeb... |
OMIM:300534 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Upslanted palpebral fissure, Precocious puberty, Cataract, Abnormal repetitive mannerisms |
OMIM:619877 |
| Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Anophthalmia, Toe syndactyly, Microcephaly, Myelomeningocele, U... |
ORPHA:2052 |
| Joubert Syndrome 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Postaxial hand polydactyly, Hydrocephalus, Postaxia... |
OMIM:608091 |
| Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Splenomegaly, Conjunctival icterus, Leukocytosis, Cholelith... |
ORPHA:53035 |
| Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Tethered cord, Spina bifida, Absent radius, Short thumb, Hyp... |
OMIM:192350 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Chronic otitis media, Male infertility, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
| Pagod Syndrome |
|
Encephalocele, Spina bifida, Sudden cardiac death, Microcephaly, Meningocele, Arrhythmia |
ORPHA:991 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia |
OMIM:277480 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:602782 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Distal Duplication 17Q |
|
Accessory spleen, Epicanthus, Severe short stature, Short stature, Rhizomelia, Hyperactivity, Cry... |
ORPHA:3379 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... |
ORPHA:90791 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Short stature, Birth length less than 3rd percentile, Inappropriate laughter, Intr... |
OMIM:614104 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Dysphagia, Lymphopenia, Throm... |
ORPHA:319218 |
| Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Splenomegaly, Iris hypopigmentation |
ORPHA:834 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis |
ORPHA:309031 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Cockayne Syndrome |
|
Dry hair, Retinal arteriolar constriction, Lentiglobus, Cryptorchidism, Abnormal cornea morpholog... |
ORPHA:191 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Tongue thrusting, Dysphagia, Hypopigmentation of the skin, Iris hypopig... |
ORPHA:98795 |
| Aicardi-Goutieres Syndrome 1 |
|
Short stature, Chilblains, Diabetes insipidus, Splenomegaly, Hypothyroidism, Self-mutilation, Thr... |
OMIM:225750 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, Infectious encephalitis, Short stature, Autoimmune thrombocytopenia, Abnormali... |
ORPHA:391487 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Diabetes mellitus, Bilateral ptosis, Cryptorchidism, Keratoconjunctivitis sicca, Astigm... |
ORPHA:536532 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short phalanx of finger, Broad finger |
OMIM:302350 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Cholesteryl Ester Storage Disease |
|
Adrenal calcification, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hep... |
OMIM:278000 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Growth delay, Hypochromic microcytic anemia, Atopic dermatitis, Thrombocytopenia |
ORPHA:3240 |
| Tangier Disease |
|
Corneal opacity, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Nail dystroph... |
ORPHA:31150 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcephaly, Long fingers, Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malfo... |
OMIM:156610 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cut... |
OMIM:257850 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia |
ORPHA:79096 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis |
OMIM:619693 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Skin rash, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Leu... |
OMIM:603553 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... |
ORPHA:3429 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor... |
ORPHA:3472 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Neutropenia, Hepatitis, Ch... |
OMIM:308230 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... |
ORPHA:166119 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Metrorrhagia, Menorrhagia, Hypochromic anemia |
ORPHA:99147 |
| Overlap Myositis |
|
Diabetes mellitus, Arthritis, Leukopenia, Rheumatoid arthritis, Dysphagia, Thrombocytopenia |
ORPHA:206572 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
ORPHA:228390 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... |
OMIM:302960 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:259700 |
| Progeroid Short Stature With Pigmented Nevi |
|
Cataract, Hypospadias, Allergic rhinitis, Premature ovarian insufficiency, Short stature, Diabete... |
OMIM:176690 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Rhizomelia, Recurrent pneumonia, Growth delay, Leukopenia, Neutropenia, Intrauterine gr... |
OMIM:616271 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Epicanthus, Hypospadias, Short stature, Multiple pterygia, Hypoplastic nipples, Pterygium, Hypopl... |
OMIM:177980 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Microcephaly, Unilateral microphthalmos, Macrocephaly, Polymicrogyria, Adducted thumb |
OMIM:618874 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter |
ORPHA:83601 |
| Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Bilateral cryptorchidism, Ankyloblepharon, Micropenis, Pterygium, Abse... |
OMIM:263650 |
| Buratti-Harel Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula |
OMIM:619314 |
| Oculodentodigital Dysplasia |
|
Microcephaly, Basal ganglia calcification, 4-5 finger syndactyly, Hip dislocation, Abnormal cereb... |
OMIM:164200 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93259 |
| Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker bottom foot, Postaxial poly... |
OMIM:311900 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Microcephaly,... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Microcephaly,... |
ORPHA:363958 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Leukopenia, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:251000 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
| Galloway-Mowat Syndrome 1 |
|
Microcephaly, Pachygyria, Cerebral atrophy, Hypoplasia of the iris, Hypoplasia of the brainstem, ... |
OMIM:251300 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Multinodular goiter, Hypomelanotic ... |
OMIM:618373 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Revesz Syndrome |
|
Aplastic anemia, Leukocoria, Nail pits, Fine, reticulate skin pigmentation, Fine hair, Nail dystr... |
OMIM:268130 |
| Antisynthetase Syndrome |
|
Myositis, Skin rash, Myocarditis, Keratoconjunctivitis sicca, Dysphagia |
ORPHA:81 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Osteomyelitis, Short stature, Hypochromic microcytic anemia, Arthritis, Septic arthritis |
OMIM:619423 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating ... |
OMIM:608747 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger... |
ORPHA:90652 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation, Bone marrow hypocellularity, Pancytopenia, Nail dystrophy |
OMIM:613988 |
| Alg12-Cdg |
|
Epicanthus, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, Recurrent ... |
ORPHA:79324 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Elevated circulating e... |
OMIM:263400 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Infectious encephalitis, Thr... |
OMIM:267700 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Lysinuric Protein Intolerance |
|
Short stature, Splenomegaly, Fine hair, Anemia, Leukopenia, Hemophagocytosis, Sparse hair, Pancre... |
OMIM:222700 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Splenomegaly, Iron deficiency anemia |
OMIM:616278 |
| Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Hypersplenism, Conjunctival icterus, Leukocytosis, Leukopenia, Abnorm... |
ORPHA:480520 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Coxa vara, Lobar h... |
OMIM:614701 |
| 2Q37 Microdeletion Syndrome |
|
Sparse scalp hair, Short stature, Eczema, Supernumerary nipple, Highly arched eyebrow, Sparse eye... |
ORPHA:1001 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Aortic regurgitation, Sandal gap, Aplasia/Hypoplasia of the cerebe... |
ORPHA:254346 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Hypoplasia of the olfactory bulb |
ORPHA:2250 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Ptosis |
ORPHA:53271 |
| Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... |
OMIM:618106 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:64743 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl... |
ORPHA:2256 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Short stature, Thrombocytopenia, Leukocytosis, Spleno... |
OMIM:259720 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C... |
OMIM:301074 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Microcephaly, Abnormality of the elbow, Hip dislocation, Short middle phalanx ... |
ORPHA:1005 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Tricuspid regurgitation, Absent septum pellucidum, Microcephaly, Hydrocephalus, Dil... |
ORPHA:2556 |
| Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
| Cockayne Syndrome Type 3 |
|
Dry hair, Cataract, Mild postnatal growth retardation, Splenomegaly, Microcornea, Premature grayi... |
ORPHA:90324 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Growth delay, Iron deficiency anemia, Thrombocytosis, Hypothyroidism, Anemia |
OMIM:226300 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Central Y-shaped metacarpal, Pre... |
ORPHA:2754 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Syndactyly, Short digit, Proximal placement of thumb, Microcephaly, Talipes equinovarus, Hypoplas... |
OMIM:615789 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Sunct Syndrome |
|
Restlessness, Palpebral edema, Agitation, Conjunctival hyperemia, Ptosis |
ORPHA:57145 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Short stature, Aggressive behavior, Postnatal growth retardation, Abnormal repetitive mannerisms,... |
OMIM:212066 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, Aplasia/Hypoplasia of the... |
ORPHA:2166 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypopigmentation of the skin, Epicanthus, Aggressive behavior, Precocious puberty, Abnormal repet... |
OMIM:301066 |
| Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Myocarditis, Thrombocy... |
ORPHA:781 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Microcephaly, Microphthalmia, Broad thumb, Bilateral sin... |
ORPHA:1236 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Multiple ... |
OMIM:160980 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Smith-Magenis Syndrome |
|
Short stature, Precocious puberty, Hypothyroidism, Synophrys, Microcornea, Upslanted palpebral fi... |
ORPHA:819 |
| Hermansky-Pudlak Syndrome 7 |
|
Menorrhagia, Ocular albinism, Impaired platelet aggregation, Albinism |
OMIM:614076 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Abno... |
OMIM:617695 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
| Charge Syndrome |
|
Anophthalmia, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aqueductal stenosis, Abnormal t... |
ORPHA:138 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Hepatosplenomegaly, Oligozoospermia, Tubulointersti... |
ORPHA:85450 |
| Schilbach-Rott Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Narrow mouth |
OMIM:164220 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bi... |
OMIM:600145 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Oliver Syndrome |
|
Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydactyly, Elbow flexion contr... |
ORPHA:2920 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Anorexia, Abnormal retinal vascular morphology, Sp... |
ORPHA:33226 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:90060 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos, Pulmonic stenosis |
OMIM:601186 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms |
OMIM:618801 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Hypospadias, Short stature, Highly arched eyebrow, Supernumerary nipple, Agg... |
ORPHA:261494 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Nasolacrimal duct obstruction, Breast hypoplasia, Nai... |
ORPHA:978 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Short stature, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia |
OMIM:617941 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Polyphag... |
ORPHA:33543 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux |
OMIM:263630 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Skin rash, Pneumonia, Abnormal retinal vascular morphology, Normochromic anemi... |
ORPHA:247691 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Abnormal repetitive mannerisms, Short stature |
ORPHA:280763 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Epicanthus, Short stature, Bilateral ptosis, Anemia, Thrombocytopenia |
OMIM:619743 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
| Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Polydactyly, Macu... |
OMIM:300960 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Tortuosity of conjunctival vessels |
OMIM:613728 |
| Ogden Syndrome |
|
Maternal diabetes, Abnormal eyelid morphology, Iron deficiency anemia, Polycythemia, Abnormal rep... |
OMIM:300855 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... |
OMIM:600795 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Pachygyria, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:66629 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Simplified gyral pattern, Microcephaly |
OMIM:152950 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malformation |
OMIM:220210 |
| Hijazi-Reis Syndrome |
|
Postnatal growth retardation, Astigmatism, Abnormal repetitive mannerisms, Iris coloboma |
OMIM:301094 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Acanthocytosis, Upslanted palpebral fissure, Growth delay, Poikilocytosis, Int... |
OMIM:618947 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Joint contracture of the 5th finger, Posta... |
OMIM:619562 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Abnormal m... |
ORPHA:284160 |
| Koolen-De Vries Syndrome |
|
Epicanthus, Cataract, Iris hypopigmentation, Eczema, Short stature, Abnormality of hair texture, ... |
OMIM:610443 |
| Axial Mesodermal Dysplasia Spectrum |
|
Limbal dermoid, Abnormality of the spleen, Abnormal morphology of female internal genitalia, Shor... |
ORPHA:1834 |
| Neurofibromatosis Type 1 |
|
Abnormal eyelid morphology, Pheochromocytoma, Heterochromia iridis, Short stature, Precocious pub... |
ORPHA:636 |
| Warburg Micro Syndrome 4 |
|
Perisylvian polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callosum, Microphtha... |
OMIM:615663 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Alopecia, Skin rash, Pneumonia, Enlarged polycystic ovaries, Abnormal circulati... |
ORPHA:2298 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Autoimmune thrombocytopenia, Abnormal T cell morpholo... |
ORPHA:760 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Cataract, Skin rash, Abnormality o... |
ORPHA:91500 |
| Eisenmenger Syndrome |
|
Brain abscess, Hypochromic microcytic anemia, Iron deficiency anemia, Increased mean corpuscular ... |
ORPHA:97214 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Camptodactyly of finger, Microcephaly, Meningocele, Macrocephaly, Umbilical he... |
ORPHA:2311 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus... |
OMIM:616546 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch... |
OMIM:617091 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Micromelia, Brachydactyly |
ORPHA:2145 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proxim... |
ORPHA:96334 |
| Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Hypopigmented skin patches, Dysphagia |
ORPHA:220402 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Abnormal acetabulum morphology, Cerebellar vermis hypoplasia, Absent sep... |
ORPHA:397715 |
| Hermansky-Pudlak Syndrome 8 |
|
Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular albinism, Iris transilluminat... |
OMIM:614077 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Men... |
OMIM:236670 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Arth... |
ORPHA:536 |
| Autosomal Recessive Omodysplasia |
|
Cryptorchidism, Pterygium, Rhizomelia, Short stature |
ORPHA:93329 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Chemosis, Nephritis, Infe... |
ORPHA:73263 |
| Plasminogen Deficiency, Type I |
|
Nephritis, Conjunctivitis, Periodontitis |
OMIM:217090 |
| Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Retinal arterial occlusion, Arthritis, Coombs-positive hemolytic anemia, Microangiop... |
ORPHA:464343 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Pericarditis, Lymphopenia, Skin rash, Maculopapular exanthema, Anorexia, Aggress... |
ORPHA:99826 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Aggressive behavior, Postnatal growth retardation, Bulimia, Self-biting, Central h... |
OMIM:300912 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Hypoplastic iris stroma, Spina bifida |
OMIM:193500 |
| Dengue Fever |
|
Leukopenia, Skin rash, Thrombocytopenia |
ORPHA:99828 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Corneal opacity, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatos... |
ORPHA:2072 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... |
OMIM:300952 |
| Coffin-Siris Syndrome |
|
Hypoplastic fifth toenail, Sparse scalp hair, Hyperactivity, Hypospadias, Aggressive behavior, Po... |
ORPHA:1465 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... |
ORPHA:288 |
| 7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Hypospadias, Short stature, Aggressive behavior, Cryptorchidism, Sp... |
ORPHA:96121 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Legius Syndrome |
|
Inguinal freckling, Cataract, Short stature, Acute monocytic leukemia, Hyperactivity, Axillary fr... |
ORPHA:137605 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Postnatal gro... |
ORPHA:487796 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Short stature, Persistence of hemoglobin F, Anemia, Neutrop... |
OMIM:260400 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Epicanthus, Supernumerary nipple, Upslanted palpebral fissure, Abnormal repetitive mannerisms, Ov... |
OMIM:616579 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Holoprosenceph... |
OMIM:184705 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Microcephaly, Cardiomyopathy, Cerebellar hypoplasia, Sho... |
OMIM:217980 |
| Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
| Pitt-Hopkins Syndrome |
|
Hyperconvex nail, Supernumerary nipple, Cryptorchidism, Upslanted palpebral fissure, Self-injurio... |
OMIM:610954 |
| Gaucher Disease |
|
Pancytopenia, Osteomyelitis, Corneal opacity, Short stature, Thrombocytopenia, Osteoarthritis, Sp... |
ORPHA:355 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Upslanted palpebral fissure, Abnormal repetitive mannerisms |
OMIM:613443 |
| Oculoauriculofrontonasal Syndrome |
|
Limbal dermoid, Upper eyelid coloboma |
ORPHA:398156 |
| Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Microcephaly, Clinodactyly of the 5th finger, Clinodactyly... |
ORPHA:3255 |
| Fumarase Deficiency |
|
Conjunctival icterus, Necrotizing enterocolitis, Mitochondrial swelling, Polycythemia |
OMIM:606812 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Hypoplasia of the corpus callosum, Camptodactyly, Microphthalmia, A... |
OMIM:614230 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Hip dysplasia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum |
ORPHA:494344 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, A... |
ORPHA:449563 |
| Lopes-Maciel-Rodan Syndrome |
|
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism |
OMIM:617435 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, R... |
OMIM:229200 |
| Wolcott-Rallison Syndrome |
|
Short stature, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Growth delay... |
ORPHA:1667 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash, Thrombocytopenia |
OMIM:253270 |
| Arthrogryposis, Distal, Type 3 |
|
Submucous cleft hard palate, High palate, Bifid uvula, Cleft palate |
OMIM:114300 |
| Mucopolysaccharidosis, Type Iiid |
|
Restlessness, Hyperactivity, Short stature, Aggressive behavior, Splenomegaly, Synophrys, Hirsuti... |
OMIM:252940 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Erythermalgia, Primary |
|
Keratoconjunctivitis sicca |
OMIM:133020 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
| W Syndrome |
|
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit |
ORPHA:2804 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Epicanthus, Aggressive behavior, Compulsive behaviors, Abnormal repetitive mannerisms |
OMIM:618430 |
| Kbg Syndrome |
|
Finger clinodactyly, Microcephaly, Single transverse palmar crease, Cutaneous syndactyly |
ORPHA:2332 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydro... |
OMIM:311200 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Biparietal narrowing, Abnormal hip bone morphology, S... |
ORPHA:1323 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Small scrotum, Cryptorchidism, Ankyloblepharon, Hypoplastic labia majora, Poplitea... |
ORPHA:1300 |
| Lethal Acantholytic Erosive Disorder |
|
4-5 finger syndactyly, 2-3 finger syndactyly, Impaired myocardial contractility, Hypovolemic shoc... |
ORPHA:158687 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Microphthalmia, Ag... |
ORPHA:3301 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrhea, ... |
OMIM:157640 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abno... |
ORPHA:468631 |
| Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of finger, Postaxial... |
OMIM:249000 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Johanson-Blizzard Syndrome |
|
Micropenis, Hypothyroidism, Abnormality of the nail, Hypospadias, Short stature, Septate vagina, ... |
OMIM:243800 |
| Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphol... |
ORPHA:464329 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Synophrys, Hirsutism, Self-injurious behavior... |
OMIM:616078 |
| White-Sutton Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Abnormal repetitive mannerisms, Upslanted palp... |
OMIM:616364 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Growth delay, Thrombocytopenia, Anemia |
OMIM:614946 |
| Vitreoretinochoroidopathy |
|
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
| Fetal Alcohol Syndrome |
|
Microphthalmia, Biparietal narrowing, Microcephaly |
ORPHA:1915 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Mi... |
OMIM:214800 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Premature ovarian insufficiency, Streak ovary, Duplicated lacrimal pun... |
ORPHA:572333 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Growth delay, Iron deficiency anemia, Tooth abscess |
ORPHA:89937 |
| Apert Syndrome |
|
Syndactyly, Finger syndactyly, Absent septum pellucidum, Limited elbow movement, Megalencephaly, ... |
OMIM:101200 |
| Kindler Syndrome |
|
Ridged nail, Symblepharon, Phimosis, Corneal erosion, Spotty hypopigmentation, Periodontitis, Dys... |
OMIM:173650 |
| Craniofrontonasal Syndrome |
|
Ridged nail, Split nail, Telecanthus, Unilateral breast hypoplasia, Hypospadias, Curly hair, Shor... |
OMIM:304110 |
| Hermansky-Pudlak Syndrome 10 |
|
Albinism, Splenomegaly, Ocular albinism, Neutropenia |
OMIM:617050 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras... |
ORPHA:35078 |
| Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Microcephaly, Pachygyria, Deep palmar crease, Polydactyly, Lisse... |
OMIM:247200 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip |
OMIM:619122 |
| Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| 1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Cleft palate |
ORPHA:250999 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
| Digeorge Syndrome |
|
Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypot... |
OMIM:188400 |
| Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Skin rash, Elevated circulating growth hormone conce... |
ORPHA:97280 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... |
ORPHA:2008 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
| Hennekam-Beemer Syndrome |
|
Generalized hyperpigmentation, Short stature, Pneumonia, Upslanted palpebral fissure, Abnormality... |
ORPHA:2135 |
| Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Glomerulonephritis, Hepatosplenomegaly |
ORPHA:99931 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
| Gaucher Disease, Type Ii |
|
Splenomegaly, Anemia, Dysphagia, Recurrent aspiration pneumonia, Thrombocytopenia |
OMIM:230900 |
| Aceruloplasminemia |
|
Refractory anemia, Abnormality of retinal pigmentation, Diabetes mellitus, Abnormal pancreas morp... |
ORPHA:48818 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Small scrotum, Cryptorchidism, Microphallus, Micropenis, Abnormal repetitive manne... |
OMIM:300486 |
| Rift Valley Fever |
|
Skin rash, Anorexia, Thrombocytopenia, Hepatitis, Uveitis, Retinal vasculitis, Infectious encepha... |
ORPHA:319251 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Abnormality of skin pigmentation, Bone marrow hypocellularity, Nail dystrophy, Sparse h... |
OMIM:616353 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Epicanthus, Hypospadias, Short stature, Bilateral ptosis, Cryptorchidism, Absence of labia majora... |
OMIM:265000 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cataract, Severe short stature, Cryptorchidism, Disproportionate short-limb short stature, Pterygium |
OMIM:224410 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Epicanthus, Palpebral edema, Abnormal repetitive mannerisms, Growth delay, Blepharophimosis, Down... |
ORPHA:261144 |
| Branchio-Oculo-Facial Syndrome |
|
Cataract, Short stature, Nasolacrimal duct obstruction, Microcornea, Upslanted palpebral fissure,... |
ORPHA:1297 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Pigmentary retinopathy, Abnormal repetitive mannerisms, Aspiration pneumonia, Dysphagia |
ORPHA:79264 |
| Acquired Purpura Fulminans |
|
Skin rash, Thrombocytopenia |
ORPHA:49566 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... |
OMIM:614874 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Foot polydactyly, Short palm, Microphthalmia, Agenesis of corpus callosum |
ORPHA:268249 |
| Ménétrier Disease |
|
Giant hypertrophic gastritis, Hypochromic microcytic anemia, Anorexia |
ORPHA:2494 |
| Darier Disease |
|
Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of... |
ORPHA:218 |
| Cree Mental Retardation Syndrome |
|
Cleft soft palate |
OMIM:606851 |
| Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l... |
OMIM:605039 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Bra... |
OMIM:601005 |
| Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short stature, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Upslanted pa... |
OMIM:615802 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
| Kabuki Syndrome 1 |
|
Premature thelarche, Micropenis, Recurrent aspiration pneumonia, Hemolytic anemia, Short stature,... |
OMIM:147920 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Lissenceph... |
ORPHA:2510 |
| Houge-Janssens Syndrome 3 |
|
Epicanthus, Self-injurious behavior, Attention deficit hyperactivity disorder, Megalocornea, Abno... |
OMIM:618354 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/apl... |
ORPHA:306542 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251110 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Pneumonia, Asplenia, Absent outer dynein arms, Bronchiectasis, Abnormal cornea ... |
OMIM:244400 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Motor tics, Hyperactivity, Acanthocytosis, Phonic tics, Blepharospasm, Pigmentary... |
OMIM:234200 |
| Gaucher Disease, Perinatal Lethal |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Intrauterine growth retardation, Thrombocyto... |
OMIM:608013 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Abnormal cortical gyr... |
OMIM:617527 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Cryptorchidism, Developmental cataract, Pterygium, Hirsutism |
ORPHA:1865 |
| Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Thrombocytopenia, Cataract, Opacification of the corneal stroma |
OMIM:251290 |
| Monosomy 9Q22.3 |
|
Palmar pits, Hydrocephalus, Umbilical hernia, Polydactyly, Calcification of falx cerebri, Macroce... |
ORPHA:77301 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida, Tapered finger, Partial agenesis of the corpus callosum, Thin corpus... |
OMIM:619480 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Epicanthus, Hyperactivity, Almond-shaped palpebral fissure, Bilateral ptosis, Synophrys, Cryptorc... |
OMIM:619512 |
| Bilateral Generalized Polymicrogyria |
|
Short stature, Oral-pharyngeal dysphagia, Growth delay, Self-injurious behavior, Abnormal repetit... |
ORPHA:208447 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilia, Generalized lymphadenopathy, Eczema, Cholangi... |
ORPHA:3260 |
| Fetal Akinesia Deformation Sequence |
|
Cryptorchidism, Pterygium, Intrauterine growth retardation |
ORPHA:994 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Abnormal repetitive mannerisms, Myopic astigmatism, Long eyelashes, Dysphagia |
OMIM:617802 |
| Myhre Syndrome |
|
Overlapping toe, Microcephaly, Short toe, 2-3 toe syndactyly, Macrocephaly, Cone-shaped epiphysis... |
OMIM:139210 |
| X-Linked Intellectual Disability, Snyder Type |
|
Unilateral ptosis, Hypospadias, Short stature, Sparse eyebrow, Cryptorchidism, Synophrys, Patchy ... |
ORPHA:3063 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Astigmatism, Recurrent pneumonia |
OMIM:619769 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Single transverse palmar crease, Microcephaly, Junctional ectopic tachy... |
OMIM:309801 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Bronchiectasis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella |
OMIM:620197 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Growth delay, Hypochromic microcytic anemia, Hypothyroidism, Anemia |
OMIM:619147 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Pulmonary arterial hypertension, Pulmonic stenosis, Umbilical hernia, Brachydactyly |
OMIM:616028 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Aplasia/Hypoplasia of... |
ORPHA:1512 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Macrocepha... |
OMIM:614099 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Hypertrophic cardiomyopathy, M... |
ORPHA:1517 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Macroce... |
OMIM:601812 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia, Microcephaly |
ORPHA:2526 |
| Lujo Hemorrhagic Fever |
|
Skin rash, Maculopapular exanthema, Myocarditis, Fulminant hepatitis, Leukocytosis, Leukopenia, R... |
ORPHA:319213 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Intrauterine growth retardation, HbH hemoglobin, Diabetes insipidus, Short stature |
ORPHA:423479 |
| Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Mediastinal lymphadenopathy, Bronchiectasis, Keratoconjunctivitis sicca, Rheum... |
ORPHA:79128 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Epicanthus, Aggressive behavior, Synophrys, Congenital ptosis, Compulsive behaviors, Slanting of ... |
ORPHA:476126 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Silver-Russell Syndrome 1 |
|
Clinodactyly of the 5th finger, Syndactyly, Short middle phalanx of the 5th finger, Short distal ... |
OMIM:180860 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia, Bronchiectasis, Crohn's disease |
OMIM:619632 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal cortical gyration, Preaxial hand... |
ORPHA:2211 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Spina bifida occulta, Small hand, Short 4th metacarpal |
ORPHA:1787 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Ectropion of lower eyelids, Pineal cyst, E... |
OMIM:615873 |
| Kenny-Caffey Syndrome, Type 2 |
|
Basal ganglia calcification, Macrocephaly, Microphthalmia, Thickened cortex of long bones, Abnorm... |
OMIM:127000 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Relative macrocephaly, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of... |
OMIM:151050 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Microcephaly, Toe clinodactyly, Cl... |
ORPHA:217346 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... |
OMIM:117650 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
| Otoonychoperoneal Syndrome |
|
Upslanted palpebral fissure, Popliteal pterygium, Abnormality of the nail |
ORPHA:2793 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate, Anteriorly placed anu... |
OMIM:612863 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Thrombocytopenia, Dysphagia |
OMIM:254900 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Overlapping toe |
OMIM:618571 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Overlapping toe, Long fingers, Cutaneous syndactyly, Macrocephaly, Overlapping fingers |
OMIM:618316 |
| 3C Syndrome |
|
Finger syndactyly, Hydrocephalus, Hand polydactyly, Abnormal hip bone morphology, Macrocephaly, A... |
ORPHA:7 |
| Sepsis In Premature Infants |
|
Splenomegaly, Leukocytosis, Enterocolitis, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:90051 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr... |
ORPHA:93932 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Anoperine... |
OMIM:618213 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Hypothyroidism, Self-inju... |
ORPHA:449291 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... |
OMIM:619762 |
| Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Holoprosencephaly, Macrocephaly, Microphthalmia, Abnormal c... |
ORPHA:141099 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Microcephaly, Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly |
ORPHA:1439 |
| Snijders Blok-Campeau Syndrome |
|
Epicanthus, Astigmatism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618205 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility, Asplenia, Bronchiectasis, Recurren... |
ORPHA:244 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Agenesis of cerebellar vermis, Single transverse palmar crease, Proximal placement ... |
OMIM:113620 |
| Adnp Syndrome |
|
Broad hallux, Single transverse palmar crease, Sandal gap, Microcephaly, Abnormal toe morphology,... |
ORPHA:404448 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, Cleft palate, Bifid ... |
ORPHA:2780 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Hyperactivity, Osteomyelitis, Keratitis, Corneal scarring, Nail dystrophy, Rec... |
OMIM:256800 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Talipes cavus equinovarus, Lipomyelomeningocele, Myelomenin... |
ORPHA:573278 |
| Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Corneal erosion, Developmental cataract, Anterior lenticonus, Nephritis, Lent... |
OMIM:301050 |
| Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Absent septum pellucidum, Hip dislocation, Umbi... |
OMIM:613884 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Cerebrofacioarticular Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Talipes equin... |
ORPHA:314679 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Cerebral calcification, Camptodactyly of finger, Short hallux,... |
ORPHA:2710 |
| Acitretin/Etretinate Embryopathy |
|
Epicanthus, Hypoplasia of the thymus, Antecubital pterygium |
ORPHA:40366 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Delayed epiphyseal oss... |
OMIM:210710 |
| Phelan-Mcdermid Syndrome |
|
Epicanthus, Palpebral edema, Aggressive behavior, Hypoplastic toenails, Abnormal repetitive manne... |
OMIM:606232 |
| Ivic Syndrome |
|
Leukocytosis, Severe short stature, Rectovaginal fistula, Thrombocytopenia |
ORPHA:2307 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Skin rash, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abno... |
OMIM:617600 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Pachygyria, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:2328 |
| Cholestasis-Lymphedema Syndrome |
|
Abnormality of skin pigmentation, Splenomegaly |
ORPHA:1414 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Abnormality of the orbital region, Polycystic ovaries, Arthritis, Type I dia... |
ORPHA:371428 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Microcephaly |
ORPHA:178303 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
| Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Sinusitis, Pneumonia, Pustule, Granuloma, Abnormality of the adrenal glands, Cornea... |
ORPHA:68 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93260 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Linear Nevus Sebaceus Syndrome |
|
Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Biparietal... |
ORPHA:2612 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Short philtrum, Cleft soft palate, Smooth philtrum |
ORPHA:293725 |
| Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Preaxial hand polydactyly, Postaxial hand p... |
OMIM:236680 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcephaly, Hypopla... |
OMIM:613451 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Generalized... |
OMIM:615846 |
| Opitz-Kaveggia Syndrome |
|
Relative macrocephaly, Syndactyly, Broad hallux, Single transverse palmar crease, Partial agenesi... |
OMIM:305450 |
| Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
| Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Epicanthus, Short stature, Abnormal repetitive mannerisms, Hypothyroidism, Hypoplas... |
ORPHA:2479 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Short stature, Cryptorchidism, Synophrys, Abnormal repetitive mannerisms, Micropenis, Upslanted p... |
OMIM:617330 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microcephaly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the ... |
ORPHA:364577 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
| Stickler Syndrome, Type I |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate, Pierre-Robin sequence |
OMIM:108300 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontocerebellar hypoplasia, Hyd... |
ORPHA:457284 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Shawl scrotum |
ORPHA:85277 |
| Poland Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A... |
ORPHA:2911 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Microcytic anemia, Retinal telangiectasia, Cholecystitis, Cholelithi... |
ORPHA:774 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:235400 |
| Methylmalonic Aciduria, Cbla Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251100 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Microcephaly, Hypoplasia of ... |
ORPHA:464306 |
| Orofaciodigital Syndrome V |
|
Sandal gap, Postaxial polydactyly, Microcephaly, Postaxial hand polydactyly, Postaxial foot polyd... |
OMIM:174300 |
| Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Tricuspid regurgitation, Tethered cord, Postaxial polydactyly, Micr... |
OMIM:618460 |
| Native American Myopathy |
|
Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate, Bifid uvula |
ORPHA:168572 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Incre... |
ORPHA:90041 |
| Cystinosis, Nephropathic |
|
Male infertility, Hypopigmentation of hair, Diabetes mellitus, Short stature, Oral-pharyngeal dys... |
OMIM:219800 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Upslanted palpebral fissure, Abnormal repetitive mannerisms |
OMIM:617807 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Tortuosity of conjunctival vessels, Ptosis |
ORPHA:284289 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Intrauterine growth retardation, Dysphagia, Thrombocytopenia, Aggressive behavior |
ORPHA:572798 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Microcephaly, Retinal hemorrhage, Hypoplasia of t... |
OMIM:609049 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip... |
ORPHA:35173 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Developmental cataract, Growth delay, Abnormal circu... |
ORPHA:93325 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Hypopla... |
OMIM:149730 |
| Adrenomyeloneuropathy |
|
Frontal balding, Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Abnormality o... |
ORPHA:139399 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Syndactyly, Intraventricular hemorrhage, Cerebral atrophy |
OMIM:616430 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Microcephaly, ... |
OMIM:309800 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly |
OMIM:614800 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Early balding, Low posterior hairline, Iron deficiency anemia, Posterior polar cataract, Downslan... |
ORPHA:261584 |
| Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Renovascular hypertension, Brachydactyly |
OMIM:602531 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Nail dystrophy, Corneal pterygium, Symblepharon, Recurrent loss of toenails and fingernails |
OMIM:245660 |
| White-Sutton Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Self-injurious behavior, Astigmatism, Compulsi... |
ORPHA:468678 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou... |
OMIM:300990 |
| Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
| Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Microphthalmia, Long th... |
OMIM:300895 |
| Holoprosencephaly 7 |
|
Occipital meningocele, Microcephaly, Alobar holoprosencephaly, Partial agenesis of the corpus cal... |
OMIM:610828 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous... |
OMIM:620029 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ... |
OMIM:619950 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Splenomegaly, Leukopenia, Thrombocytopenia |
OMIM:300972 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius |
ORPHA:246 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrogenic diabetes insipidus, Giant cell hepatitis, Thrombocytopenia |
OMIM:208085 |
| Fucosidosis |
|
Short stature, Splenomegaly, Vacuolated lymphocytes, Tortuosity of conjunctival vessels, Cherry r... |
OMIM:230000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Hypospadias, Short stature, Cryptorchidism, Abnormal repetitive mannerisms, Microp... |
OMIM:309590 |
| Developmental And Epileptic Encephalopathy 6B |
|
Abnormal repetitive mannerisms |
OMIM:619317 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Vaginal neoplasm, Short stature, Hypothyroidism, Multiple ... |
ORPHA:1052 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Conjunctival hyperemia, Neuromuscular dysphagia, Impulsivity |
ORPHA:240071 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Basal ganglia calcification, Microcephaly |
OMIM:610651 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Hypoplasia of penis, Corneal opacity, Abnormal hair pattern, Absent e... |
ORPHA:920 |
| Van Esch-O'Driscoll Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Impulsivity, Upslanted palpebral fissure, Growth de... |
OMIM:301030 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Synophrys, Abnormality of skin pigmentation, Tics, Otitis media, Compulsive behavi... |
OMIM:619475 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Ankyloblepharon, Hypoplas... |
OMIM:119500 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukocytosis, Peritonitis, Schistocytosis, Microangiopathic he... |
ORPHA:90038 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusit... |
OMIM:614935 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormality of skin pigmentation, Premature graying of hair, Abnormal hair morphology, Type I dia... |
ORPHA:1979 |
| Lambert-Eaton Myasthenic Syndrome |
|
Keratoconjunctivitis sicca, Impotence, Abnormality of the orbital region |
ORPHA:43393 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Supernumerary nipple, Aggressive behavior, Astigmatism, Downslanted palpebral fissures, Abnormal ... |
ORPHA:457279 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Autism, Susceptibility To, 3 |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:608049 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Epicanthus, Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Anisocoria, Narrow palpe... |
OMIM:618653 |
| Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Thrombocytopenia, Osteoarthritis, Atypical or prolonged hep... |
OMIM:277900 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
| Neuroendocrine Tumor Of Stomach |
|
Chronic noninfectious lymphadenopathy, Anorexia, Increased circulating ACTH level, Iron deficienc... |
ORPHA:100075 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Thin upper lip vermilion, Submucous cleft hard palate |
OMIM:619680 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... |
ORPHA:99228 |
| Monosomy X |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... |
ORPHA:99226 |
| Turner Syndrome |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... |
ORPHA:881 |
| Cystinosis |
|
Corneal opacity, Short stature, Nephrogenic diabetes insipidus, Hypothyroidism, Delayed puberty, ... |
ORPHA:213 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Sparse eyebrow, Recurrent pneumonia, Upslanted palpebral fissure, Growth delay, Dysphagia, Abnorm... |
ORPHA:496641 |
| Double Outlet Right Ventricle |
|
Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth |
ORPHA:3426 |
| Pterygium, Antecubital |
|
Antecubital pterygium |
OMIM:178200 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormal cortical gyration, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, S... |
OMIM:300968 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger |
OMIM:201180 |
| Cockayne Syndrome A |
|
Dry hair, Cataract, Short stature, Splenomegaly, Cryptorchidism, Retinal pigment epithelial mottl... |
OMIM:216400 |
| Ring Chromosome 7 Syndrome |
|
Unilateral ptosis, Epicanthus, Hypospadias, Short stature, Highly arched eyebrow, Bilateral ptosi... |
ORPHA:1449 |
| Hallermann-Streiff Syndrome |
|
Microcephaly, Congestive heart failure, Small hand, Short foot, Cerebellar hypoplasia, Clinodacty... |
ORPHA:2108 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Tapered finger, Microcephaly, Long fingers, 2-3 toe syndactyly, Hypoplasia of the corpus callosum... |
OMIM:616734 |
| 1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Epicanthus, Cataract, Hypoplasia of penis, Hypospadias, Short statur... |
ORPHA:1606 |
| Momo Syndrome |
|
Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Macrocephaly, Congenital ps... |
ORPHA:2563 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Telecanthus, Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Upslanted palpebral... |
ORPHA:1974 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Short stature, Compulsive behaviors, Attention deficit hyperactivity disorder, Blepharophimosis, ... |
OMIM:615656 |
| Larsen Syndrome |
|
Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of... |
ORPHA:503 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Xq28 (MECP2) duplication |
|
Abnormal repetitive mannerisms, Dysphagia |
DECIPHER:45 |
| Hurler Syndrome |
|
Corneal opacity, Short stature, Splenomegaly, Abnormality of skin pigmentation, Growth delay, Rhi... |
ORPHA:93473 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Thick eyebrow, Abnormal repetitive mannerisms, Widow's peak, Agitation, Dysphagia, Intrauterine g... |
OMIM:619229 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Hyperpigmentation of the skin, Short stature, Inc... |
OMIM:202010 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Submucous cleft hard palate, High palate |
OMIM:222765 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Kinsship Syndrome |
|
Single transverse palmar crease, Coxa valga, Microcephaly, Hip dislocation, Fibular hypoplasia, P... |
OMIM:619297 |
| Cirrhotic Cardiomyopathy |
|
Conjunctival icterus, Addictive alcohol use |
ORPHA:57777 |
| X Small Rings |
|
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... |
ORPHA:96201 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Absent septum pellucidum, Mic... |
ORPHA:87 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Epicanthus, Dry hair, Hypospadias, Pneumonia, Eczema, Biliary hyperplasia, Spl... |
OMIM:619991 |
| Cockayne Syndrome B |
|
Dry hair, Severe short stature, Abnormal hair morphology, Splenomegaly, Cryptorchidism, Postnatal... |
OMIM:133540 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... |
OMIM:619573 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
| Fryns Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Agenesis of corpus callosum, Cerebral cortical at... |
ORPHA:2059 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Anemia, Growth delay, Delayed puberty, Thrombocytopenia |
ORPHA:77261 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly, Hypertension |
ORPHA:110 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo... |
OMIM:617925 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anter... |
OMIM:616975 |
| Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth |
OMIM:154500 |
| Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Hydrocephalus, Bilateral talipes equinovarus, Cerebellar hypoplasia,... |
OMIM:614083 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... |
ORPHA:2886 |
| Mandibuloacral Dysplasia |
|
Alopecia, Postnatal growth retardation, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Ab... |
ORPHA:2457 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Rieger anomaly, Epicanthus, Hypospadias, Short stature, Highly arched eyebrow, ... |
OMIM:194190 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... |
ORPHA:244242 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Short stature, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal repetitive... |
OMIM:300352 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec... |
OMIM:619580 |
| Myhre Syndrome |
|
Submucous cleft hard palate, Cleft palate, Gingival cleft, Abnormal lip morphology, Thin vermilio... |
ORPHA:2588 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Nail dystrophy, Nail dysplasia, Anonychia, Axillary pterygium, Ectropion |
OMIM:226730 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Postaxial polydactyly |
OMIM:219730 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Aggressive behavior, Astigmatism, Obsessive-compulsive trait, Abnormal repetitive ... |
ORPHA:168491 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Menorrhagia, Imp... |
ORPHA:274 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Epicanthus, Postnatal growth retardation, Bilateral ptosis, Abnormal repetitive mannerisms, Conge... |
ORPHA:300570 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Epicanthus, Abnormal location of the eyebrow, Almond-shaped palpebral fissure, Repetitive compuls... |
ORPHA:522077 |
| Tick-Borne Encephalitis |
|
Anorexia, Leukocytosis, Leukopenia, Dysphagia, Myelitis, Thrombocytopenia |
ORPHA:297 |
| Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... |
ORPHA:626 |
| Radial Heads, Posterior Dislocation Of |
|
Antecubital pterygium |
OMIM:179200 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Fasciitis, Osteomyelitis, Hyperactivity, Abscess, Impulsivity, Self-mutilation, Corn... |
ORPHA:642 |
| Dural Sinus Malformation |
|
Chemosis |
ORPHA:97339 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye |
ORPHA:91495 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the ra... |
ORPHA:958 |
| Aicardi Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Small hand, Hip dysplasia, Aplasia/Hypopla... |
ORPHA:50 |
| Hardikar Syndrome |
|
Decreased serum insulin-like growth factor 1, Lacrimal duct stenosis, Cholangitis, Short stature,... |
OMIM:301068 |
| Pallister-Hall Syndrome |
|
Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, Umbilical hernia, Polydactyly affecting ... |
ORPHA:672 |
| Kbg Syndrome |
|
Syndactyly, Single transverse palmar crease, Microcephaly, Cutaneous syndactyly, Radial deviation... |
OMIM:148050 |
| Primrose Syndrome |
|
Bilateral cryptorchidism, Synophrys, Tics, Posterior polar cataract, Abnormal repetitive manneris... |
OMIM:259050 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema |
OMIM:221900 |
| Acrocallosal Syndrome |
|
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... |
OMIM:200990 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Recurrent skin infections, Glomerulonephritis, Corneal erosion, Dysphagia, Gastrointestinal infla... |
ORPHA:79408 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Short stature, Anemia, Leukopenia, Elliptocytosis, Bone marrow hypocellularity, Sec... |
ORPHA:2785 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Autoimmune thrombocytopenia, Hypersp... |
ORPHA:77293 |
| Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Cataract, Hypoplasia of penis, Hypospadias, Sclerocornea, Hypopigmentation of hair, A... |
ORPHA:818 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Few cafe-au-lait spots, Nail-biting, Epicanthus, Telecanthus, Small scrotum, Eczema, Aggressive b... |
OMIM:620330 |
| Hypoadrenocorticism, Familial |
|
Abnormality of skin pigmentation, Adrenal insufficiency, Adrenal hypoplasia |
OMIM:240200 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly |
ORPHA:1252 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Growth delay, Splenomegaly, Thrombocytopenia |
OMIM:251880 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... |
ORPHA:989 |
| Niemann-Pick Disease, Type C2 |
|
Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Dysphagia, Abnormal repetitive mann... |
OMIM:607625 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Craniolenticulosutural Dysplasia |
|
Brittle hair, Short stature, Abnormality of skin pigmentation, Coarse hair, Posterior Y-sutural c... |
ORPHA:50814 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Cataract, Short stature, Follicular thyroid car... |
ORPHA:201 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Short thumb, Small hand, Telangiectasia, Short foot, Talipes equinova... |
OMIM:268400 |
| Pulmonary Arteriovenous Malformation |
|
Iron deficiency anemia, Brain abscess, Liver abscess, Bacterial endocarditis |
ORPHA:2038 |
| Neuroleptic Malignant Syndrome |
|
Leukocytosis, Agitation, Aspiration pneumonia, Dysphagia, Thrombocytosis, Thrombocytopenia |
ORPHA:94093 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Polydactyly, Hypoplasia of the corpus cal... |
OMIM:619869 |
| Desmosterolosis |
|
Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow mouth, Bifid uvula |
ORPHA:35107 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Tricuspid regurgitation, Macrocephaly, Mesomelia, Camptodactyly, Clinodactyly, Short ... |
OMIM:616894 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Submucous cleft soft palate, Cleft soft palate |
ORPHA:2282 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Retinal astrocytic hamartoma, Impulsivity, Aggressive behavior, Retinal hamartoma,... |
ORPHA:805 |
| Coffin-Siris Syndrome 12 |
|
Sparse scalp hair, Epicanthus, Hypospadias, Short stature, Highly arched eyebrow, Cryptorchidism,... |
OMIM:619325 |
| Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Anal atresia, Persistent cloaca |
OMIM:615709 |
| Lysinuric Protein Intolerance |
|
Glomerulonephritis, Decreased response to growth hormone stimulation test, Thrombocytopenia, Hepa... |
ORPHA:470 |
| Orofaciodigital Syndrome Type 4 |
|
Median cleft lip, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiv... |
ORPHA:2753 |
| Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, O... |
OMIM:192430 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Hydrocephalus, Umbilical hernia, Cubitus valgus |
OMIM:104350 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia |
OMIM:619227 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Phaver Syndrome |
|
Epicanthus, Pterygium, Downslanted palpebral fissures, Intrauterine growth retardation |
ORPHA:2876 |
| Monosomy 9P |
|
Proximal placement of thumb, Microcephaly, Abnormality of the tarsal bones, Postaxial hand polyda... |
ORPHA:261112 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... |
ORPHA:2215 |
| Leptospirosis |
|
Pericarditis, Skin rash, Anorexia, Hepatitis, Uveitis, Lymphadenopathy, Optic neuritis, Conjuncti... |
ORPHA:509 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Optic nerve hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Macrocephaly,... |
OMIM:620025 |
| Hartsfield Syndrome |
|
Syndactyly, Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Ectrodactyly, Agenes... |
OMIM:615465 |
| Vacterl/Vater Association |
|
Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Anencephaly, Aplasia/Hypop... |
ORPHA:887 |
| Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, Tethered cord, 1-2 toe syndactyly, M... |
OMIM:107480 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia |
ORPHA:99901 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... |
ORPHA:2750 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Hypereosinophilia, Disproporti... |
ORPHA:508533 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal basal ganglia MRI signal intensity, Short humerus, Short femur, Microcephaly, Cerebral a... |
ORPHA:17 |
| Fryns Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Rocker bottom foot, Short thumb, Hy... |
OMIM:229850 |
| Aicardi-Goutières Syndrome |
|
Myositis, Diabetes mellitus, Short stature, Chilblains, Neonatal alloimmune thrombocytopenia, Hep... |
ORPHA:51 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
| Bruck Syndrome 1 |
|
Pterygium, Short stature |
OMIM:259450 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Cortical dysplasia, Intracranial hemorrhage, Short palm, Clinodactyl... |
OMIM:613406 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Hypospadias, S... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Hypospadias, S... |
ORPHA:353277 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger c... |
ORPHA:508488 |
| Bruck Syndrome |
|
Pterygium, Short stature |
ORPHA:2771 |
| Phace Association |
|
Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation |
OMIM:606519 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Eczema, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Short stature, Seborrheic dermatitis, Splenomegaly, Aspiration pneumonia, Thrombocytopenia |
OMIM:301072 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Corneal opacity, Hypospadias, Cryptorchidism, Birth length less than 3rd percentile, Astigmatism,... |
ORPHA:464311 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Salt craving, Maternal diabetes, Gout, Tubulointerstitial nephritis, Ir... |
ORPHA:358 |
| Hemorrhagic Fever-Renal Syndrome |
|
Glomerulonephritis, Pneumonia, Thrombocytopenia, Leukocytosis, Acute tubulointerstitial nephritis... |
ORPHA:340 |
| Mucopolysaccharidosis Type 2 |
|
Abnormality of retinal pigmentation, Hyperactivity, Corneal opacity, Short stature, Impulsivity, ... |
ORPHA:580 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microcephaly, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia |
OMIM:259770 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Microcytic anemia, Splenomegaly, Anemia, Bile duct prol... |
OMIM:619525 |
| Bruck Syndrome 2 |
|
Pterygium, Short stature |
OMIM:609220 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Diabetes mellitus, Pneumonia, Myocarditis, Leukocytosis, Thrombo... |
ORPHA:544482 |
| Branchioskeletogenital Syndrome |
|
Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Submucous cleft hard palate... |
ORPHA:1299 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Epicanthus, Telecanthus, Hypospadias, Short stature, Hypoplastic toenails, Cryptorchidism, Abnorm... |
OMIM:619522 |
| Proteus Syndrome |
|
Central heterochromia, Neoplasm of the thymus, Abnormality of skin pigmentation, Generalized hirs... |
ORPHA:744 |
| Meier-Gorlin Syndrome 5 |
|
Submucous cleft hard palate, Thick vermilion border, Long philtrum |
OMIM:613805 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Conjunctival whitish salt-like deposits |
OMIM:211900 |
| Cardiofaciocutaneous Syndrome 1 |
|
Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard palate, Dental maloc... |
OMIM:115150 |
| Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Hypertension, Deep palm... |
OMIM:616580 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
| Sclerosteosis 1 |
|
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... |
OMIM:269500 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Epicanthus, Aggressive behavior, Hair-pulling, Self-injurious behavior, Downslanted palpebral fis... |
OMIM:616393 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Ethmocephaly, Agen... |
OMIM:236100 |
| Multiple Pterygium Syndrome, X-Linked |
|
Intrauterine growth retardation, Epicanthus, Multiple pterygia |
OMIM:312150 |
| Cat Eye Syndrome |
|
Absent radius, Microphthalmia, Umbilical hernia, Pulmonic stenosis |
OMIM:115470 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Hydrocephalus, Genu ... |
OMIM:164210 |
| Spondylospinal Thoracic Dysostosis |
|
Multiple pterygia |
OMIM:601809 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Buphthalmos, Hypoplasia o... |
OMIM:253280 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:268300 |
| Fraser Syndrome 2 |
|
Microphthalmia, Cutaneous syndactyly |
OMIM:617666 |
| Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... |
ORPHA:90354 |
| Okamoto Syndrome |
|
Tethered cord, Microcephaly, Abnormally large globe, Hip dysplasia, Syringomyelia, Polydactyly, H... |
ORPHA:2729 |
| Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Absent septum pellucidum, Aplastic clavicle, Abnormal metacarpal morphology, H... |
ORPHA:2658 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Broad hallux, Microcephaly, Postaxial hand... |
OMIM:615948 |
| Faciocardiomelic Syndrome |
|
Slender long bone, Polydactyly, Hypoplastic pelvis, Microcephaly |
OMIM:612731 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, S... |
OMIM:612474 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:610042 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Erythroderma |
ORPHA:312 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the ra... |
OMIM:263750 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Triphalangeal t... |
ORPHA:794 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Short stature, Multiple pterygia, Antecubital pterygium, Popliteal pterygium, Downslanted palpebr... |
OMIM:178110 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Neuroocular Syndrome |
|
Brittle hair, Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hooded upper eyelid, Short st... |
OMIM:619539 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
| Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in... |
OMIM:301043 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Finger syndactyly, Bundle branch block, Congenital hip dislocation, Toe sy... |
ORPHA:373 |
| Tolchin-Le Caignec Syndrome |
|
Hooded eyelid, Precocious puberty, Hirsutism, Nasolacrimal duct obstruction, Attention deficit hy... |
OMIM:618971 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Intrauterine growth retardation, Vaginal atresia, Antecubital pterygium |
OMIM:616258 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Carpenter Syndrome 2 |
|
Short digit, Tricuspid regurgitation, Single transverse palmar crease, Postaxial polydactyly, Pre... |
OMIM:614976 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Epicanthus, Abnormality of the menstrual cycle, Osteoarthritis, Cystocele, Decreased... |
ORPHA:285 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Aortic regurgitation, Tapered finger, Abnormal toe morphology, Microcephaly, Hypop... |
ORPHA:268261 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Abnormal digit morpholog... |
ORPHA:95494 |
| Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Epicanthus, Hypoplasia of the gallbladder, Hypospadias, Alopecia, Abnormality of s... |
ORPHA:96176 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Agene... |
ORPHA:42775 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Recurrent otitis media, Chronic sinusitis, Male infertility |
OMIM:619607 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Postaxial hand polydactyly, Macrocephaly, Hypertension, Polydactyly, Meso... |
OMIM:613610 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Intrauterine growth retardation, Epicanthus, Multiple pterygia |
OMIM:253290 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Periventricular leukomalacia, Preaxial polydactyly |
ORPHA:163681 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Plague |
|
Chapped lip, Skin rash, Anorexia, Erythema nodosum, Lymphadenitis, Splenomegaly, Enterocolitis, E... |
ORPHA:707 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ... |
ORPHA:209959 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Short ... |
OMIM:216340 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Cataract, Hypospadias, Pneumonia, Short stature, Aggressive behavior, Impulsivity,... |
ORPHA:353281 |
| Fontaine Progeroid Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Tricuspid regurgitation, Microcephaly, Hydrocephalus, P... |
OMIM:612289 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... |
ORPHA:2473 |
| Alkaptonuria |
|
Osteoarthritis, Abnormality of skin pigmentation, Arthritis, Irregular hyperpigmentation, Prostat... |
ORPHA:56 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia, Abnormal circulating osteocalcin level, Short stature, Disproportionate s... |
ORPHA:93315 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Hypersplenism, Splenomegaly, Biliary hyperplasia, Recurrent pneumonia, Pancreatic cy... |
ORPHA:731 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Relative macrocephaly, Syndactyly, Narrow joint spaces of the elbow, Clinodactyly of the 5th fing... |
ORPHA:96182 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, R... |
OMIM:619575 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation |
ORPHA:53296 |
| 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 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, High, narrow palate, Wide mouth, Widely spaced teeth, Short philtrum, Narrow mou... |
OMIM:300967 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Omodysplasia 1 |
|
Epicanthus, Rhizomelia, Cryptorchidism, Popliteal pterygium, Narrow palpebral fissure, Disproport... |
OMIM:258315 |
| Idiopathic Panuveitis |
|
Conjunctival hyperemia, Cataract, Red eye, Posterior synechiae of the anterior chamber |
ORPHA:280921 |
| Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Hydroxykynureninuria |
|
Stomatitis, Abnormal repetitive mannerisms |
ORPHA:79155 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Antecubital pterygium |
OMIM:618469 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Telecanthus, Symblepharon, Thick eyebrow, Micropenis |
ORPHA:488434 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum |
OMIM:619321 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Unilateral ptosis, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Low anterior... |
OMIM:301044 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate |
OMIM:614557 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| 3Mc Syndrome 3 |
|
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly |
OMIM:248340 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Rett Syndrome |
|
Agitation, Cholecystitis, Increased serum leptin, Abnormal repetitive mannerisms, Stereotypical h... |
ORPHA:778 |
| Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Schizencephaly, Cerebral hemorrhage, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Retin... |
OMIM:175780 |
| Ear-Patella-Short Stature Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Narrow mo... |
ORPHA:2554 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Intrauterine growth retardation, Pterygium |
OMIM:225790 |
| Papillorenal Syndrome |
|
Microphthalmia, Hypertension |
OMIM:120330 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Large placenta, Short femoral neck, Cli... |
ORPHA:1708 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Synophrys, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Microcephaly |
ORPHA:322 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Postaxial polydactyly, Microcephaly, Hip dysplasia, Branchial anomaly, Ta... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Postaxial polydactyly, Microcephaly, Hip dysplasia, Branchial anomaly, Ta... |
ORPHA:352665 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
| Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Small intestine carcinoid, Increased serum serotonin, Lymphadenopathy |
ORPHA:100078 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Popliteal pterygium, Downslanted palpebral fissures, Short stature |
OMIM:119800 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Narrow greater sciatic notch, Short palm, Agenesis of corpus callos... |
OMIM:312870 |
| Renpenning Syndrome 1 |
|
Microcephaly, Cerebral atrophy, Camptodactyly, Clinodactyly of the 5th finger, Microphthalmia, Sy... |
OMIM:309500 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Thin lower lip vermilion, W... |
OMIM:619194 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Bilateral single transverse palma... |
ORPHA:3253 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot, Camptodactyly, C... |
OMIM:227330 |
| Nail-Patella Syndrome |
|
Toenail dysplasia, Abnormal iris pigmentation, Antecubital pterygium, Arthritis, Fingernail dyspl... |
ORPHA:2614 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Palpebral edema, Short stature, Aggressive behavior, Abnormal repetitive mannerism... |
OMIM:614756 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Absent septum pellucidum, Dysplastic corpus callosum, Secondary microcephaly, Holopro... |
OMIM:618820 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
| Developmental And Epileptic Encephalopathy 100 |
|
Synophrys, Dysphagia, Abnormal repetitive mannerisms, Short palpebral fissure, Hypoplastic finger... |
OMIM:619777 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Cryptorchidism, Nail dysplasia, Sparse hair, Abnormal repetitive mannerisms |
OMIM:616682 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
| Cardiofaciocutaneous Syndrome |
|
Submucous cleft hard palate, High palate, Long philtrum |
ORPHA:1340 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
| Robinow Syndrome |
|
Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Mesomelic arm shortening, Radioulna... |
ORPHA:97360 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Congenital hip dislocation, Overlapping toe, Cerebellar vermis hypoplasia, Postaxi... |
ORPHA:480880 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Broad hallux, Single transverse palmar crease, Pulmonary arterial hypertension, M... |
OMIM:620186 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly |
OMIM:236700 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Zttk Syndrome |
|
Abnormality of the dentition, Submucous cleft hard palate, Downturned corners of mouth, Thin verm... |
OMIM:617140 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft soft palate, Deep phi... |
OMIM:619503 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ... |
ORPHA:3107 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Wrist swelling, Hip dislocation, Periventricular cysts, Genu valgum, Fin... |
OMIM:309000 |
| Tetraamelia Syndrome 1 |
|
Microphthalmia, Hydrocephalus, Hypoplastic pelvis |
OMIM:273395 |
| Marden-Walker Syndrome |
|
Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Narrow mouth, Bifid uvula |
ORPHA:2461 |
| Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Short metat... |
OMIM:261540 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Recurrent skin infections, Urinary bladder inflammation, Nail dystrophy, Pterygium, Ectropion |
ORPHA:79403 |
| Warburg-Cinotti Syndrome |
|
Epicanthus, Symblepharon, Narrow palpebral fissure, Decreased corneal thickness, Blepharophimosis... |
OMIM:618175 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma |
OMIM:129400 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
| Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Bile duct proliferation |
OMIM:610688 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Rabson-Mendenhall Syndrome |
|
Cardiomyopathy, Polydactyly |
ORPHA:769 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus c... |
ORPHA:261537 |
| Fraser Syndrome 3 |
|
Short toe, Hydrocephalus, Cutaneous syndactyly |
OMIM:617667 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:261197 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Dural ecta... |
OMIM:610168 |
| Mullegama-Klein-Martinez Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly, Microcephaly |
OMIM:301022 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Holoprosencephaly, Microphthalmia,... |
OMIM:157170 |
| Osteogenesis Imperfecta |
|
Rhizomelia, Short stature, Corneal opacity, Osteoarthritis, Growth delay, Dysphagia, Intrauterine... |
ORPHA:666 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Viss Syndrome |
|
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thrombocytopenia |
ORPHA:464321 |
| Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Telecanthus, Symblepharon, Micropenis |
OMIM:611929 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Acute Liver Failure |
|
Skin rash, Hepatitis, Agitation, Adrenal insufficiency, Thrombocytopenia |
ORPHA:90062 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormality of the upper limb, Sho... |
ORPHA:1556 |
| Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Skin rash, Leukocytosis, Pancreatic hyperplasia, Thrombocytopenia |
ORPHA:99829 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Pineal cyst, Stereotypical body rocking, Recurrent otitis media, ... |
ORPHA:513456 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... |
ORPHA:581 |
| Rett Syndrome, Congenital Variant |
|
Tongue thrusting, Abnormal repetitive mannerisms, Bruxism |
OMIM:613454 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Congestive heart failure, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly,... |
OMIM:181270 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus c... |
ORPHA:261552 |
| Treacher-Collins Syndrome |
|
Encephalocele, Microphthalmia, Branchial fistula |
ORPHA:861 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Syndactyly, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, P... |
OMIM:619534 |
| Lymphangioleiomyomatosis |
|
Retinal hamartoma, Lymphadenopathy, Abnormality of skin pigmentation, Ungual fibroma, Abnormal mo... |
ORPHA:538 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Microcephaly, Abnormal toe morphology, Abnorm... |
ORPHA:79500 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ... |
OMIM:617088 |
| Cystic Fibrosis |
|
Male infertility, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, Chronic sinusitis, Pan... |
OMIM:219700 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Asplenia, Webbed penis, Micropenis, Abnormal repetitive mannerisms, Iris coloboma,... |
ORPHA:2152 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate |
OMIM:618891 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Submucous cleft hard palate, Stillbirth, Narrow mouth, Neonatal death |
OMIM:275210 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature |
ORPHA:1521 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Hypospadias, Alopecia, Abnormali... |
ORPHA:286 |
| Gardner Syndrome |
|
Neoplasm of the pancreas, Pilomatrixoma, Adrenocortical carcinoma, Abnormality of skin pigmentati... |
ORPHA:79665 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Myocardial infar... |
OMIM:150230 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Short toe, Clinodactyly of the 5th finger, Umbilical hernia, Arrhythmia, Brach... |
ORPHA:1519 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Cleft palate, Downturned corners of mouth, Thin vermilion border, Short philtrum, Submucous cleft... |
ORPHA:500150 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Genu varum |
ORPHA:1969 |
| Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
| Developmental And Epileptic Encephalopathy 2 |
|
Abnormal repetitive mannerisms |
OMIM:300672 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Thin upper lip vermilion, Abnormality of the dentition, Downturned corners of mouth,... |
ORPHA:3455 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Mowat-Wilson Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of... |
OMIM:235730 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Neoplasm of the tongue, Submucous cleft hard palate, Bifid uvula |
ORPHA:3047 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Submucous cleft hard palate, Thick vermilion border, Bifid uvula, Cleft palate |
ORPHA:2636 |
| Kyphomelic Dysplasia |
|
Pterygium, Disproportionate short stature |
OMIM:211350 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Nmda Receptor Encephalitis |
|
Ovarian teratoma, Neoplasm of the thymus, Hypersexuality, Agitation, Testicular teratoma, Abnorma... |
ORPHA:217253 |
| Exercise-Induced Malignant Hyperthermia |
|
Thrombocytopenia |
ORPHA:466650 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Cleft upper lip, Submucous cleft hard palate, Orofacial cleft, High palate, Long philtrum, Bifid ... |
OMIM:607872 |
| Hennekam Syndrome |
|
Finger syndactyly, Pachygyria, Camptodactyly of finger |
ORPHA:2136 |
| Lethal Congenital Contracture Syndrome 9 |
|
Antecubital pterygium, Axillary pterygium, Intrauterine growth retardation |
OMIM:616503 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Recurrent otitis media, Disproportionate short-limb short stature, Antecubital pterygium |
ORPHA:2502 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... |
ORPHA:116 |
| Restrictive Dermopathy |
|
Natal tooth, Submucous cleft hard palate, Microcolon, Narrow mouth |
ORPHA:1662 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
| Kanzaki Disease |
|
Tortuosity of conjunctival vessels |
OMIM:609242 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
