| Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
| Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
| Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
| Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
| Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
| Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... |
ORPHA:3232 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Ankyloblepharon, Cleft palate, Cleft upper lip |
OMIM:106250 |
| Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip |
OMIM:600251 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Isolated Cleft Lip |
|
Small for gestational age, Polyhydramnios, Abnormal Eustachian tube morphology, Conductive hearin... |
ORPHA:199302 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Ankyloblepharon, Cleft palate |
ORPHA:1074 |
| Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Oculomaxillofacial Dysostosis |
|
Median cleft lip, Abnormal eyelid morphology, Abnormal eyelash morphology, Abnormality of the den... |
ORPHA:1794 |
| Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Facial cleft, Upper eyelid coloboma, Cleft palate |
OMIM:613456 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| Fryns Microphthalmia Syndrome |
|
Macrotia, Abnormality of the ear, Facial cleft, Bilateral cleft lip and palate |
OMIM:600776 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Overfolded helix, Abnormal middle ear morphology, Abnormal antihelix morphology, L... |
ORPHA:79113 |
| Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Unilateral Ocular Duplication |
|
Abnormal eyebrow morphology, Median cleft lip, Midline facial cleft, Cleft palate, Blepharophimosis |
ORPHA:3374 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
| Cerebrooculonasal Syndrome |
|
Epicanthus, Sparse eyelashes, Sparse eyebrow, Facial cleft, Upslanted palpebral fissure, High pal... |
ORPHA:66625 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo... |
OMIM:615631 |
| Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
| Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
| Megaepiphyseal Dwarfism |
|
Epicanthus, Cleft palate |
OMIM:249230 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cupping, Genu ... |
OMIM:619073 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Anemia |
ORPHA:100025 |
| Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, B lympho... |
OMIM:241600 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Underdeveloped nasal alae, Long nose, Congenital stapes ankylosis, Conductive h... |
OMIM:184460 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Anophthalmia Plus Syndrome |
|
Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft lip and palate, Eyelid colobom... |
ORPHA:1104 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Cleft palate, Everted lower lip vermilion, Narrow mouth, Blepharophimosis, Oral synechia |
ORPHA:2016 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
| Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Neonatal hypoproteinemia, Pedal edema |
OMIM:152800 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Anemia |
OMIM:238700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Areflexia of lower limbs, Elevated circulating creatine kinase concentration, Ankle... |
OMIM:615883 |
| Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Cleft palate |
OMIM:600331 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares, Polyhydramnios, Round ear |
ORPHA:1450 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Syndactyly, Anemia of inadequate production, Anisocytosis, Spl... |
OMIM:224120 |
| Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Hyperphosphatemia, Short 5th finger, Hy... |
ORPHA:79445 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Telecanthus, Cleft upper lip, High, narrow palate, Facial cleft, Cleft palate, Eyelid coloboma |
OMIM:607597 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hy... |
OMIM:612526 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares |
ORPHA:2015 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Facial cleft, Cleft palate, Microtia, Atresia of the external auditory canal, Na... |
OMIM:239800 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Genu valgum, Hypocalcemia, Abnormal epiphysis morphology, Abnormal... |
ORPHA:53 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Blepharophimosis, Non-midline cleft lip, Upper eyelid coloboma, Cleft palate, Facial... |
ORPHA:1791 |
| Branchiootic Syndrome |
|
Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the external auditory ... |
ORPHA:52429 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbuminemia, Thrombocytosis, Hypoprote... |
OMIM:226300 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short palm, Anemia |
OMIM:244460 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
| Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Anorexia |
ORPHA:2494 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Facial cleft, Abnormal antihelix morphology, Abnorma... |
ORPHA:952 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Bowing of the legs, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit... |
ORPHA:90362 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Anemia, Hypocalcemia, Erlenmeyer flask deformity of the femurs, Thrombocytopenia |
ORPHA:210110 |
| 17Q21.31 Microduplication Syndrome |
|
Abnormality of the outer ear, Short nose, Failure to thrive, Anteverted nares |
ORPHA:217340 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia, Coxa valga |
OMIM:191420 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Facial cleft, Low-set ears |
OMIM:601357 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
OMIM:603553 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the middle ear, Atresia of the external auditory canal... |
ORPHA:3236 |
| Maxillonasal Dysplasia, Binder Type |
|
Large earlobe, Short nose, Short columella, Depressed nasal bridge |
OMIM:155050 |
| Deafness, X-Linked 7 |
|
Posteriorly rotated ears, Wide nasal bridge, Atresia of the external auditory canal, Stenosis of ... |
OMIM:301018 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal |
OMIM:221320 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance, Anemia |
ORPHA:75563 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares, Low-set ears |
ORPHA:46 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o... |
ORPHA:93324 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| 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 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Hyperphosphatemia, Hypocalcemia, Brachydactyly |
OMIM:603233 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Branchiogenic-Deafness Syndrome |
|
Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana... |
OMIM:609166 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
| Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hypocalcemia |
ORPHA:172 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Failure to thrive, Sensorineural hearing impairment |
OMIM:618379 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Decreased circulating antibody level, Agammaglobulinemia, Low-set ears, C... |
OMIM:616910 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormal Eustachian tube morphology, Recurrent otitis m... |
ORPHA:513456 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
| Aural Atresia, Congenital |
|
Hyposmia, Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:607842 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Intermittent diarrhea... |
OMIM:620270 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
| Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Otofaciocervical Syndrome |
|
Depressed nasal bridge, Anteverted nares, Protruding ear, Abnormal antihelix morphology, Atresia ... |
ORPHA:2792 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
| Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
| Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis |
OMIM:185800 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... |
OMIM:600081 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Atresia of the external auditory canal, Hearing impairment |
ORPHA:3023 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Bifid nasal tip, Microtia, Atresia of the external auditory canal, Bifid nose, Conductive hearing... |
ORPHA:2213 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
| 2P21 Microdeletion Syndrome |
|
Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia |
ORPHA:2668 |
| Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Femur fracture, Splenomegaly, Flared metaphysis, Coxa vara, Anemia, Hypocalcemia, T... |
OMIM:259700 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Posteriorly rotated ears, Anteverted nares, Depressed nasal ridge, Low-set ears, Short nose |
ORPHA:1832 |
| Meniere Disease |
|
Vertigo, Tinnitus, Hearing impairment |
OMIM:156000 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Macrotia, Depressed nasal bridge |
ORPHA:438178 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Pterygium Colli, Isolated |
|
Short nose, Protruding ear |
OMIM:177990 |
| Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
| Hypophosphatasia |
|
Bowing of the long bones, Abnormal metaphysis morphology, Hypercalcemia, Anemia |
ORPHA:436 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231226 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intention... |
OMIM:610539 |
| Bor Syndrome |
|
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Atr... |
ORPHA:107 |
| Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Hypoproteinemia, Anemia |
ORPHA:2315 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Clinodactyly of the 5th finger, Hypoproteinemia, Aggressive behavior, Micrognathia |
OMIM:608093 |
| Acromelic Frontonasal Dysostosis |
|
Telecanthus, Cleft upper lip, Midline facial cleft, Cleft palate, U-Shaped upper lip vermilion, D... |
OMIM:603671 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:264700 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
| 3Mc Syndrome 3 |
|
Highly arched eyebrow, Cleft upper lip, Facial cleft, Cleft palate, Blepharophimosis, Epicanthus ... |
OMIM:248340 |
| Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge, Convex nasal ridge |
ORPHA:1695 |
| Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Iron Overload, Susceptibility To |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... |
OMIM:620121 |
| Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... |
ORPHA:2549 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Hemochromatosis, Type 4 |
|
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... |
OMIM:606069 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory tract infections... |
OMIM:614069 |
| Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Abn... |
ORPHA:949 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Ankyloblepharon, Lip pit |
ORPHA:1072 |
| Acrocephalopolydactyly |
|
Short nose, Microtia, Depressed nasal ridge |
ORPHA:221054 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Diarrhea, Athetosis, Leukopenia, Neutropenia, Fai... |
OMIM:229050 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Camptodactyly, Rocker bottom foot, Anisocytosis, Micrognathia |
OMIM:604273 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micrognathia, Splenomegaly, Postaxial hand polydactyly, Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
| Hemochromatosis, Type 2B |
|
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr... |
OMIM:613313 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Micrognathia |
ORPHA:446 |
| Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Obesity, Large earlobe, Low-set ears, Short nose, Low h... |
OMIM:617752 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| 17P13.3 Microduplication Syndrome |
|
Low-set ears, Wide nose, Short nose |
ORPHA:217385 |
| X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia |
ORPHA:47 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Radioulnar synostosis |
ORPHA:71289 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Elbow flexion contra... |
OMIM:619470 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
| Braddock-Carey Syndrome 2 |
|
Bulbous nose, Atresia of the external auditory canal, Hearing impairment |
OMIM:619981 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Sensorineural hearing impairment, ... |
ORPHA:1529 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Hypoproteinemia, ... |
OMIM:615895 |
| Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Hypercalcemia, Short 5th finger, Hypocalcemia, Hypoplasia of the capital f... |
ORPHA:557003 |
| Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short metatarsal, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Brachyd... |
OMIM:612462 |
| Coxoauricular Syndrome |
|
Microtia, Atresia of the external auditory canal, Hearing impairment |
ORPHA:1508 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Short nose, Short nasal septum, Hearing impairment |
OMIM:302950 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia... |
ORPHA:167 |
| Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De... |
OMIM:618774 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th... |
ORPHA:848 |
| Aceruloplasminemia |
|
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... |
OMIM:604290 |
| Pierpont Syndrome |
|
Wide nose, Posteriorly rotated ears, Broad nasal tip, Large fleshy ears, Decreased body weight, S... |
OMIM:602342 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Anem... |
OMIM:127000 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Posteriorly rotated ears, Short nose, Anteverted nares, Low-set ears |
OMIM:618506 |
| Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Hypocalcemia, Neonatal hypoglycemia |
OMIM:606407 |
| Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
OMIM:141400 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| 14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge |
ORPHA:261120 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Hypoglycemia, Sandal gap, Hypoplasia of the radius, Short... |
OMIM:607143 |
| Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Abnormality of the dentition, Carious teeth, Facial cleft, Tooth agenesis, Downs... |
ORPHA:1786 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Micrognathia, Splenomegaly, Postaxial hand polydactyly, Hepatosplenomegaly, Hypocalcemia, Hypopro... |
ORPHA:1655 |
| External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:133705 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hyp... |
ORPHA:86816 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Ring Chromosome 10 Syndrome |
|
Tapered finger, Sandal gap, Hypocalcemia, Micrognathia |
ORPHA:1438 |
| Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Slender long bone, Hypocalcemia, Hypoplastic spleen, Brachydactyly |
OMIM:602361 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Anteverted nares, Posteriorly rotated ears, Bulbous nose, Wide nasal bridge, Low-set ears, Recurr... |
OMIM:613604 |
| Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor... |
ORPHA:352540 |
| Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Microglossia, Den... |
OMIM:614669 |
| Anencephaly 2 |
|
Median cleft lip, Short palpebral fissure, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
| Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Short nose |
ORPHA:2370 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Hand tremor, Gait ataxia, Gait disturbance, D... |
ORPHA:98764 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... |
ORPHA:158048 |
| Abruzzo-Erickson Syndrome |
|
Hearing impairment, Macrotia, Cleft palate, Protruding ear |
OMIM:302905 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short nose, Recurrent pneumonia, Protruding ear |
ORPHA:1495 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Vestibulocochlear Dysfunction, Progressive |
|
Vestibular areflexia, Tinnitus, Progressive hearing impairment |
OMIM:193005 |
| Weaver-Williams Syndrome |
|
Protruding ear, Cleft palate, Narrow mouth |
ORPHA:3448 |
| Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Bulbous nose, Anosmia, Protruding ear, Microtia, Atresia of the external auditor... |
ORPHA:2316 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pedal edema, H... |
ORPHA:247353 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Coarse metaphyseal trabecularization, Genu valgum, Hypocalcemia, Abnormal hip bone morphology, Hy... |
ORPHA:93160 |
| Oculocerebrocutaneous Syndrome |
|
Facial cleft, Orofacial cleft, Wide mouth, Eyelid coloboma, Ptosis |
ORPHA:1647 |
| Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
| Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
| Chung-Jansen Syndrome |
|
Anteverted nares, Obesity, Large earlobe, Short nose, Macrotia |
OMIM:617991 |
| X-Linked Intellectual Disability, Abidi Type |
|
Hearing impairment, Non-midline cleft lip, Cleft palate, Protruding ear |
ORPHA:85273 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Bilateral conductive hearing impairment, Atresia of the external auditory canal |
ORPHA:2010 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Hypocalcemic s... |
OMIM:241410 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, De... |
ORPHA:289157 |
| Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Cleft palate, Stenosis of the external audit... |
OMIM:612290 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Anorexia, Thrombocytopenia, Splenomegaly, Optic atrophy, Choreoathetosis, Cardiomyopath... |
ORPHA:79312 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Sensorineural hearing impairm... |
OMIM:614744 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Splenomegaly, Dystonia, Loss of ambulation, Thrombocytopenia |
OMIM:615010 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Conductive hearing impairment, Velopharyngea... |
ORPHA:199306 |
| Thomas Syndrome |
|
Downslanted palpebral fissures, Cleft palate, Cleft upper lip |
ORPHA:3316 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of the legs, Anorexia, Short rib... |
OMIM:241500 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Atresia of the external auditory canal |
OMIM:209770 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
| Constricting Bands, Congenital |
|
Eyelid coloboma, Facial cleft, Cleft palate, Cleft upper lip |
OMIM:217100 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Ventricular septal defect, Ataxia, Situs inversus ... |
OMIM:249270 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Micrognathia, Splenomegaly, Leukocytosis, Flared meta... |
OMIM:259720 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Microtia, Short nose, Hearing impairment |
ORPHA:1914 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Recurrent skin infections, Broad nasal tip, Overweight, Recurrent upper respiratory tract infecti... |
ORPHA:391372 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Everted lower lip vermilion, Ectropion |
OMIM:242500 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Blephar... |
OMIM:601349 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Bronchiectasis, Increased circula... |
OMIM:242860 |
| Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnormal macular mo... |
OMIM:607616 |
| Timothy Syndrome |
|
Hypoglycemia, Hypocalcemia, Cutaneous syndactyly |
OMIM:601005 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Short metacarpal, Short fifth metatarsal, Short metatarsal, Polyphagia, Hyperphosphat... |
ORPHA:79444 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Low-set ears, Hypoplasia of the antihelix, Short nose, Failure to... |
OMIM:616420 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose |
OMIM:614701 |
| Cartilage-Hair Hypoplasia |
|
Short palm, Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx ... |
ORPHA:175 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
OMIM:300946 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
| Malaria |
|
Anemia, Retinopathy, Gait imbalance, Thrombocytopenia |
ORPHA:673 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Perlman Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Low-set ears, Thickened helices, S... |
ORPHA:2849 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Increased bone mineral density, Reticulocytosis, Recurrent fractures, Splenome... |
OMIM:611490 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... |
ORPHA:90041 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
| Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Highly arched eyebrow, Cleft lip, Cleft palate, Short philtrum, Evert... |
OMIM:616898 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hearing impairment, Cleft palate, Cleft upper lip |
OMIM:120433 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Failure to thrive, Depressed nasal bridge, Edema, Pericardial effusion, Low-set ears, Short nose,... |
OMIM:608776 |
| Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Atresia of the external auditory canal, Cond... |
ORPHA:1488 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Osteoporosis, Failure to thrive, Thrombocytopenia, Amelogenesis imperfecta |
OMIM:614727 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia |
ORPHA:329249 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Lo... |
OMIM:616430 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Retinal dystrophy, Ventricular septal defect, Anorexia, Megaloblastic anemia, Diarrhea, Optic atr... |
ORPHA:49827 |
| Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... |
ORPHA:861 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short nose, Macrotia, Hearing impairment |
ORPHA:2701 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia |
OMIM:619302 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Low-set ears, Short nose, Failure to thrive |
ORPHA:1895 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Failure to thrive in infancy, Cardiomegaly, Diarrhea, Anemia... |
ORPHA:858 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Dys... |
ORPHA:94093 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Metaphyseal irregularity, Hypophosphatemia, Polydipsia, ... |
OMIM:239200 |
| Slc35A2-Cdg |
|
Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct... |
ORPHA:356961 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Thickened helices, Short nose, Hear... |
OMIM:618828 |
| Mullegama-Klein-Martinez Syndrome |
|
Depressed nasal bridge, Prominent nose, Bulbous nose, Sensorineural hearing impairment, Wide nasa... |
OMIM:301022 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose, Obesity |
OMIM:300577 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Iron deficiency anemia, Hypocalcemia, Type I diabetes mellitus, Thrombocytosis |
OMIM:212750 |
| Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leukopenia, Neutr... |
OMIM:615285 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
| Oculoskeletodental Syndrome |
|
Splenomegaly, Hypercalcemia, Hypocalcemia, Short femoral neck |
OMIM:618440 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Weiss-Kruszka Syndrome |
|
Anteverted nares, Hearing impairment, Cupped ear, Overfolded helix, Protruding ear, Microtia, Low... |
OMIM:618619 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia |
OMIM:605899 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Brachydactyly, Hypocalcemia, Short distal phalanx of finger |
ORPHA:1563 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Dysmetria, Acute myelomonocytic leukemia, ... |
OMIM:159550 |
| Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Anal stenosis, Ablepharon, Cleft upper lip, Cicatricial lagophthalmos, Absent eye... |
OMIM:263650 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Short nose, Macrotia, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Pes planus, Rocker bottom foot, 2-3 toe syndac... |
ORPHA:163979 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Short nose, Macrotia, Low-set ears |
OMIM:615419 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Obesity, Short columella, Microtia, Low-set ears, Short... |
ORPHA:171839 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia |
OMIM:615924 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen... |
ORPHA:37042 |
| Lambotte Syndrome |
|
Atresia of the external auditory canal, Macrotia, Convex nasal ridge |
OMIM:245552 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Sensorineural hearing impairment, Cleft palate |
OMIM:612370 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:613443 |
| Dermotrichic Syndrome |
|
Short nose, Macrotia, Depressed nasal bridge |
ORPHA:99688 |
| Spinocerebellar Ataxia 21 |
|
Postural tremor, Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Pr... |
OMIM:607454 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... |
OMIM:620306 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Macrotia, Wide nasal bridge, Short nose |
OMIM:620292 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Intractable diarr... |
OMIM:617475 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Large earlobe, Short nose, Wide nasal bridge, Broad nasal tip |
OMIM:615716 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Unsteady gait, Neuromuscular dysphagia, Blepharospasm, Falls,... |
ORPHA:240094 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Posteriorly rotated ears, Prominent nasal bridge, Bulbous nose, Cupped ear, Short nose |
OMIM:613870 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Short nose, Prominent nasal bridge, Low-set ears, Broad nasal tip |
OMIM:613544 |
| Multiple Synostoses Syndrome 1 |
|
Stapes ankylosis, Underdeveloped nasal alae, Wide nasal bridge, Progressive conductive hearing im... |
OMIM:186500 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Microtia, Short nose, Convex nasal ridge, Oligohydramnios |
ORPHA:2145 |
| Teebi Hypertelorism Syndrome 2 |
|
Short nose, Depressed nasal bridge, Hearing impairment, Broad nasal tip |
OMIM:619736 |
| Even-Plus Syndrome |
|
Bifid nasal tip, Depressed nasal ridge, Atopic dermatitis, Microtia, Short nose, Oligohydramnios |
OMIM:616854 |
| Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Stenosis of the external auditory ca... |
OMIM:249620 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Overfolded helix, Abnormal helix morphology, Low-set ears, Short nose |
ORPHA:1913 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Retinal dystrophy, Aplastic anemia, Thromboc... |
OMIM:617052 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Dystonia |
OMIM:619301 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... |
ORPHA:83463 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia, Dystonia |
OMIM:610329 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Overfolded helix, Microtia, Atresia of the external auditory c... |
OMIM:610536 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Microtia, Polyhydramnios |
ORPHA:2547 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
| Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia |
ORPHA:29073 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Metaphyseal widening, Diaphyseal sclerosis, Inappropriate laughter, Hypocalcemia, Erlenmeyer flas... |
OMIM:618476 |
| Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sensorineural hearing impairmen... |
ORPHA:2789 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Failure to thrive in infancy, Obesity, Broad nasal tip |
OMIM:613670 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Diarrhea, L... |
ORPHA:98850 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... |
OMIM:212050 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Short nose, Uplifted earlobe |
OMIM:300143 |
| Perry Syndrome |
|
Akinesia, Tremor, Weight loss, Inappropriate behavior, Disinhibition, Dystonia, Short stepped shu... |
OMIM:168605 |
| Stickler Syndrome Type 1 |
|
Short nose, Osteoarthritis, Sensorineural hearing impairment |
ORPHA:90653 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... |
OMIM:222100 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Atresia of the external auditory canal, Hearing impairment |
OMIM:243180 |
| 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 |
| Codas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Midline defect of the... |
ORPHA:1458 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Pol... |
ORPHA:79443 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Splenom... |
OMIM:617913 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Abnormal pinna morphology, Small for gestational age, Recurrent upper respiratory tract infection... |
ORPHA:3078 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Sparse eyelashes, Sparse eyebrow, Facial cleft, Cleft palate, Eyelid coloboma, Ptosis |
ORPHA:306542 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Short nose, Depressed nasal ridge, Low-set ears |
OMIM:613885 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Decreased mean corpuscu... |
OMIM:611590 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Optic atrophy, Dysmetria, Athetosis,... |
OMIM:617710 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Tracheo... |
OMIM:612561 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Diabetes mellitus,... |
ORPHA:79230 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Telecanthus, Lip pit, Facial cleft, Hypodontia, Abnormal palate morphology |
ORPHA:1236 |
| Barber-Say Syndrome |
|
Abnormal pinna morphology, Anteverted nares, Bulbous nose, Wide nasal bridge, Atresia of the exte... |
ORPHA:1231 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Propionic Acidemia |
|
Pancytopenia, Thrombocytopenia, Osteoporosis, Neutropenia, Cardiomyopathy, Constipation, Vomiting... |
OMIM:606054 |
| Mycophenolate Mofetil Embryopathy |
|
Tracheoesophageal fistula, Orofacial cleft, Facial cleft, Microtia, Anotia, Atresia of the extern... |
ORPHA:268249 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
| Split hand/foot malformation 1 (SHFM1) |
|
Lacrimal duct aplasia, Median cleft lip, Cleft palate |
DECIPHER:46 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal sclerosis, Hyperp... |
ORPHA:94089 |
| Isolated Agammaglobulinemia |
|
Failure to thrive, Abnormality of neutrophils, Thrombocytopenia, Diarrhea, Arthritis, Cellulitis,... |
ORPHA:229717 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... |
OMIM:231100 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Obesity, A... |
ORPHA:1435 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Sanjad-Sakati Syndrome |
|
Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Small for gestational age, Low-set ears, Short nose, Failure to thrive, Hearing impair... |
OMIM:614261 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Small for gestational age |
OMIM:245570 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
| Aceruloplasminemia |
|
Refractory anemia, Abnormality of retinal pigmentation, Torticollis, Ataxia, Akinesia, Tremor, Li... |
ORPHA:48818 |
| Acrootoocular Syndrome |
|
Small for gestational age, Sensorineural hearing impairment, Abnormal earlobe morphology, Atresia... |
ORPHA:2980 |
| Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Abnormality of the lower limb, Elevated circu... |
ORPHA:36234 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Choreoathetosis, Cardiomyopathy, Leuk... |
ORPHA:27 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Short nose, Thick nasal alae, Posteriorly rotated ears, Low-set ears |
ORPHA:163961 |
| Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Short nose, Depressed nasal bridge, Sensorineural hearing impairment |
ORPHA:2143 |
| Frontonasal Dysplasia 2 |
|
Telecanthus, Tessier number 13 facial cleft, Sparse eyelashes, Conical tooth, Sparse eyebrow, Bro... |
OMIM:613451 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Hypocalcemia, Pes cavus, Hyp... |
ORPHA:746 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... |
OMIM:616278 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Anteverted nares, Abnormal pinna morphology, Long nose, Bulbous nose, Absent nasal bridge, Low-se... |
ORPHA:261211 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Manganese Poisoning |
|
Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Gait disturbance, Inappropriate l... |
ORPHA:306682 |
| Al-Raqad Syndrome |
|
Short nose, Low-set ears |
OMIM:616459 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Short nose, Depressed nasal bridge, Low-set ears |
OMIM:614732 |
| Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Short metatarsal, Hyperphosphatemia, Short finger, Hypocalcemic teta... |
OMIM:103580 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Diarrhea, Vestibular areflexia, Hypochromic microcytic anemia, Vomiting, Osteope... |
ORPHA:3240 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Anotia, Atresia of the ex... |
OMIM:608257 |
| Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Palmopla... |
ORPHA:173 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Short nose |
ORPHA:3307 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Underdeveloped nasal alae, Overfolded helix, Ma... |
ORPHA:2083 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Micrognathia, Thrombocytopeni... |
OMIM:619991 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Severe sensorineural hearing impairment, Short nose, Microtia, Low-set, posteriorly rotated ears |
ORPHA:2983 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Hypercalcemia, Micrognathia, Unilateral radial aplasia, Tapered finger, Partial absen... |
ORPHA:476126 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Cardiomyopathy, Pigmen... |
OMIM:222300 |
| Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Increased nuchal translucency... |
ORPHA:93329 |
| Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose |
OMIM:610015 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Bulbous nose, Short nose, Hear... |
ORPHA:284169 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Anteverted nares, Posteriorly rotated ears, Polyhydramnios, Small for gestational age, Wide nasal... |
OMIM:616897 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Diarrhea, Osteoporosis, Rickets, Pigmentary retinopathy, Vomiting, Failure to thrive |
OMIM:560000 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Akinesia, Gait ataxia, Macular degeneration, Dysdiadochokinesis, Shufflin... |
ORPHA:247234 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Low-set ears, Overfolded h... |
OMIM:243310 |
| Blepharonasofacial Malformation Syndrome |
|
Epicanthus, Telecanthus, Abnormal eyelash morphology, Non-midline cleft lip, Cleft palate, Tooth ... |
ORPHA:1252 |
| Amyotrophy, Hereditary Neuralgic |
|
Epicanthus, Cleft palate, Upslanted palpebral fissure, Narrow mouth, Blepharophimosis, Ptosis |
OMIM:162100 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor... |
ORPHA:411634 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Diabetes mellitus, Splenomegaly, Hypomagnesemia, Dysphagia, Hypoph... |
ORPHA:699 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, Microtia, Low-set... |
OMIM:613320 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
| Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Sho... |
ORPHA:1716 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tremor, Wide nasal bridge, Limb tremor, Short nose, Macrotia |
OMIM:218000 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
| Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Conductive hearing impairment, Short nose, Failure to thrive |
ORPHA:561 |
| Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
| Kapur-Toriello Syndrome |
|
Posteriorly rotated ears, Bulbous nose, Atresia of the external auditory canal, Low-set ears, Fai... |
ORPHA:2328 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Bowing of the long bones, Hypercalcemia, Micrognathia, Metaphyseal chondrodyspla... |
OMIM:156400 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Smooth philtrum, Thin upper lip vermilion, Highly arched eyebrow, Cleft palate |
OMIM:611867 |
| Holoprosencephaly 11 |
|
Cleft lip, Synophrys, Thick eyebrow, Cleft palate |
OMIM:614226 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... |
ORPHA:391411 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Polyhydramnios, Choanal stenosis, Low-... |
OMIM:619859 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Short nose, Depressed nasal bridge, Low-set ears, Bilateral conductive hearing impairment |
OMIM:617802 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypoglycemia, Hypercalcemia, Eosinophilia, An... |
ORPHA:199299 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Posteriorly rotated ears |
OMIM:300887 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Thrombocytopenia, Optic atrophy, Choreoathetosis, Neutropenia, Anemia |
ORPHA:289916 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short nose, Wide nasal bridge, Hearing impairment |
OMIM:614078 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Blepharospasm, Falls, Gai... |
ORPHA:240071 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Treacher Collins Syndrome 2 |
|
Choanal atresia, Fusion of middle ear ossicles, Anotia, Microtia, Choanal stenosis, Conductive he... |
OMIM:613717 |
| Cadds |
|
Short nose, Dystonia, Cholangitis, Sensorineural hearing impairment |
ORPHA:369942 |
| Periventricular Nodular Heterotopia 7 |
|
Short nose, Failure to thrive, Anteverted nares, Sensorineural hearing impairment |
OMIM:617201 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Anteverted nares, Overfolded helix, Low-set ears, Short nose, Failure to thrive |
OMIM:613735 |
| Burn-Mckeown Syndrome |
|
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Sparse eyelashes, Cleft upper lip, Sparse eyebrow, Cleft palate, Hyp... |
OMIM:225060 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia, Optic atrophy, Vomiting, Joint contracture, Failure to thrive |
OMIM:616881 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
| Mosaic Trisomy 9 |
|
Intestinal malrotation, Facial cleft, Cleft palate, Upslanted palpebral fissure, High palate |
ORPHA:99776 |
| Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Cupped ear, Denta... |
OMIM:602483 |
| Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Tremor, Protruding ear, Choreoathetosis, Low-set ears, Dystonia, Short no... |
OMIM:617988 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Motor tics, Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Tremor, Optic atrophy, Dysphagia, Ph... |
OMIM:234200 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Posteriorly rotated ears, Bulbous nose, Obesity, Low-set ears, Short nose |
OMIM:618430 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Edema of the dorsum of feet, Edema of the dorsum of hands, Sensorineural hea... |
ORPHA:544503 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Iridocyclitis, Chronic mucocutaneous candidiasis, K... |
OMIM:240300 |
| Non-Distal Duplication 13Q |
|
Abnormal antihelix morphology, Short nose, Aplasia/Hypoplasia of the earlobes |
ORPHA:1702 |
| Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, Abnorma... |
ORPHA:1642 |
| Alg8-Cdg |
|
Ataxia, Small for gestational age, Abnormality of subcutaneous fat tissue, Thrombocytopenia, Diar... |
ORPHA:79325 |
| Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hearing abnormality, Depressed nasa... |
ORPHA:1912 |
| Baker-Gordon Syndrome |
|
Choreoathetosis, Prominent nasal tip, Short nose, Dystonia |
OMIM:618218 |
| Diamond-Blackfan Anemia 10 |
|
Posteriorly rotated ears, Choanal atresia, Microtia, Atresia of the external auditory canal, Low-... |
OMIM:613309 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Failure to thrive, Anemia |
OMIM:616740 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Palpebral edema, Bulbous nose, Protruding ear, Abnormal antihelix morphol... |
ORPHA:261144 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Anemia, Cortical thickening of long bone diap... |
ORPHA:93325 |
| Gitelman Syndrome |
|
Salt craving, Maternal diabetes, Insulin resistance, Hypermagnesemia, Iron deficiency anemia, Hyp... |
ORPHA:358 |
| Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Femoral bowing... |
OMIM:602080 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Mi... |
ORPHA:1327 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Cleft upper lip, Sensorineural hearing impairment, Cleft palate, Condu... |
OMIM:214300 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Gaucher Disease, Perinatal Lethal |
|
Akinesia, Cardiomegaly, Thrombocytopenia, Splenomegaly, Opisthotonus, Hepatosplenomegaly, Dysphag... |
OMIM:608013 |
| Nager Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal nasal morphology, Microtia, Atresia of the external a... |
ORPHA:245 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Radioulnar synostosis, Joint contracture of the 5th finger, Leukemia, Hypoplastic a... |
OMIM:194350 |
| Craniofacioskeletal Syndrome |
|
Pes planus, Micrognathia, Hypoplastic frontal sinuses, Small hand, Short foot, Hypocalcemia, Shor... |
OMIM:300712 |
| Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Akinesia, Dilated cardiomyopathy, Degenerative vitreoretinopathy, Arth... |
OMIM:607598 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Anteverted ears, Short nose, Dystonia |
OMIM:618087 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thromb... |
OMIM:613101 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Anteverted nares, Small for gestational age, Sensorineural hearing impairment, Decreas... |
ORPHA:391408 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Opisthotonus, Large earlobe, Short nose, Failure to thrive |
OMIM:615851 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Wide nasal bridge, Obesity, Microtia, Short nose, Macrotia, Hearing impairment |
OMIM:620250 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Depressed nasal bridge, Anteverted nares, Underfolded helix, Prominent nose, Posteriorly rotated ... |
OMIM:618316 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Low-set ears, Short nose, Macrotia, Hear... |
ORPHA:369891 |
| Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Low-set ears, Conductive hearin... |
OMIM:130720 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Akinesia, Optic neuropathy, Optic atrophy, Choreoathetosis, Gastroesophageal r... |
OMIM:618249 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Splenomegaly, Hypocalcemia, Abnormal epiphysis morphology, Hypophosphat... |
ORPHA:667 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Hearing abnormali... |
ORPHA:2031 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
| Peho-Like Syndrome |
|
Short nose, Edema |
OMIM:617507 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Akinesia, Aggressive behavior, Tremor, Dysphagia, Gait disturbance, Dystonia |
OMIM:606693 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Anteverted nares, Posteriorly rotated ears, Low-set ears, Conductive hearing impairment, Short nose |
OMIM:617877 |
| Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets, Steatorrhea |
OMIM:607748 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Polyphagia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait |
OMIM:619911 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Flexion contracture, Optic at... |
OMIM:609541 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... |
ORPHA:79277 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia, Camptodactyly, Dysphagia |
OMIM:619751 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Short nose, Depressed nasal ridge, Low-set ears |
OMIM:300863 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Osteoporosis, Increased mean corpuscular volume, Vomiting, Neutr... |
ORPHA:2169 |
| Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Femoral-Facial Syndrome |
|
Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pel... |
ORPHA:1988 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
| Pfeiffer Syndrome Type 1 |
|
Short nose, Depressed nasal bridge, Low-set ears, Hearing impairment |
ORPHA:93258 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Depressed nasal bridge, Narrow naris, Sensorineural hearing impairment |
OMIM:122880 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Atelis Syndrome 1 |
|
Ventricular septal defect, Anemia, Leukopenia, Attention deficit hyperactivity disorder, Atrial s... |
OMIM:620184 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Anorexia, Pericardial effusion, Hypersp... |
ORPHA:77259 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Pai Syndrome |
|
Telecanthus, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Downslanted palpe... |
ORPHA:1993 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Polyhydramnios, Lo... |
ORPHA:363528 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Micrognathia, Anemia, Leukopeni... |
ORPHA:2785 |
| Parkinson Disease 17 |
|
Tremor, Resting tremor, Akinesia |
OMIM:614203 |
| Felty Syndrome |
|
Pericarditis, Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Cellulitis, Osteolysi... |
ORPHA:47612 |
| Beta-Thalassemia Major |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231214 |
| Treacher Collins Syndrome 3 |
|
Downslanted palpebral fissures, Lower eyelid coloboma, Cleft palate |
OMIM:248390 |
| Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... |
OMIM:620076 |
| Trisomy 8P |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Recurrent upper respiratory t... |
ORPHA:264450 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra... |
OMIM:307800 |
| Cystinosis |
|
Abnormal repetitive mannerisms, Rickets, Gait disturbance, Vomiting, Polydipsia, Failure to thriv... |
ORPHA:213 |
| Meier-Gorlin Syndrome 6 |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Underdeveloped nasal alae, Sm... |
OMIM:616835 |
| Isolated Arrhinia |
|
Eyelid coloboma, Facial cleft |
ORPHA:1134 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Dpagt1-Cdg |
|
Failure to thrive, Ataxia, Lipodystrophy, Akinesia, Aggressive behavior, Tremor, Inability to wal... |
ORPHA:86309 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Crouzon Syndrome |
|
Keratitis, Conjunctivitis, Atresia of the external auditory canal, Conductive hearing impairment,... |
OMIM:123500 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Posteriorly rotated ears, Depressed nasal bridge, Polyhydramnios, Short nose, Failure to thrive, ... |
OMIM:619833 |
| Trisomy 12P |
|
Abnormal antihelix morphology, Short nose, Wide nasal bridge, Low-set ears |
ORPHA:1699 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Atresia of the external auditory canal, Short columella, Microtia |
ORPHA:1770 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Wide nasal bridge, Conjunctivitis, Atresia of the external auditory canal, Conductive hearing imp... |
OMIM:106260 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Thrombocytopenia, Splenomegaly, Secretory diarrhea, Enterocoliti... |
OMIM:616050 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... |
ORPHA:100026 |
| Babesiosis |
|
Hemolytic anemia, Anorexia, Splenomegaly, Limitation of joint mobility, Leukopenia, Thrombocytopenia |
ORPHA:108 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Osteopor... |
OMIM:612562 |
| Spinocerebellar Ataxia Type 21 |
|
Tremor, Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
| Aase-Smith Syndrome I |
|
Death in infancy, Open mouth, Cleft palate, Ptosis |
OMIM:147800 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Atresia of the external auditory canal |
OMIM:601356 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Microtia, Atresia of the external auditory canal, Low-set ears |
ORPHA:3429 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridemia, Ataxia, Reduced intraab... |
ORPHA:363400 |
| Wilson Disease |
|
Aggressive behavior, Thrombocytopenia, Splenomegaly, Hypersexuality, Increased body weight, Weigh... |
ORPHA:905 |
| Corticobasal Syndrome |
|
Limb dystonia, Akinesia, Tremor, Gait disturbance, Dystonia |
ORPHA:454887 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Diff... |
ORPHA:320406 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Optic disc pallor, Inguinal hernia, Dystonia, Akinesia, Acanthocytosis, Flexio... |
OMIM:618947 |
| Chromosome 18Q Deletion Syndrome |
|
Depressed nasal bridge, Failure to thrive in infancy, Prominent nose, Tremor, Sensorineural heari... |
OMIM:601808 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Attention deficit hyperactivity disorder, Failure to ... |
OMIM:619151 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Tremor, Aggressive behavior, Akinesia, Dystonia |
OMIM:300894 |
| 16P12.1P12.3 Triplication Syndrome |
|
Bulbous nose, Large earlobe, Low-set ears, Short nose, Failure to thrive |
ORPHA:485405 |
| Sengers Syndrome |
|
Osteopenia, Hypertrophic cardiomyopathy, Thrombocytopenia |
OMIM:212350 |
| Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... |
OMIM:218330 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Hearing impairment |
OMIM:256600 |
| Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Large for gestational age, Obesity, Decreased circulating antibody level,... |
OMIM:605309 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... |
ORPHA:1901 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Akinesia, Impulsivity, Dysphagia, Weight loss, Chronic constipation, Agitation, S... |
ORPHA:411602 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Salt craving, Hypoglycemia, Hypercalcemia, Anorexia, Hyperkalemi... |
ORPHA:95409 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hypocalcemia, Thro... |
ORPHA:544482 |
| Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
| Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Absent eyebrow, Dental crowding, Cleft upper lip, Absent eye... |
OMIM:219000 |
| Isotretinoin-Like Syndrome |
|
Lymphopenia, Hypocalcemia, Micrognathia |
ORPHA:2306 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Failure to thrive in infancy, Broad nasal tip, Recurrent pneumonia, Ab... |
ORPHA:798 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose, Broad columel... |
OMIM:619383 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, Dec... |
OMIM:300749 |
| Cog4-Cdg |
|
Ataxia, Failure to thrive in infancy, Hypercholesterolemia, Hepatosplenomegaly, Intermittent diar... |
ORPHA:263501 |
| Toluene Embryopathy |
|
Short nose, Low-set ears, Protruding ear |
ORPHA:1920 |
| 20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Palpebral edema, Per... |
ORPHA:363659 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Underdeveloped nasal alae, Lo... |
OMIM:615866 |
| Smith-Magenis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Failure to thrive in infancy, Wide nasal bridge, Obesit... |
ORPHA:819 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Abnormal heart morphology, Atrial septal defect, ... |
DECIPHER:39 |
| Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Short nose, Protruding ear |
OMIM:615539 |
| Gomez-Lopez-Hernandez Syndrome |
|
Posteriorly rotated ears, Short nose, Anteverted nares, Low-set ears |
OMIM:601853 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Thrombocytopenia |
OMIM:610333 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Craniosynostosis, Tremor, Splenomegaly, Diarrhea, Neutropenia in presence of anti-... |
ORPHA:525731 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Inability to walk, Chronic constipation, Gastroesophageal reflux, Failure to thrive, Thrombocytop... |
OMIM:616577 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Ataxia, Retinal telangiectasia, Tremor, Thrombocytopenia, Osteoporosis, Optic atrophy... |
OMIM:612199 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaph... |
OMIM:260400 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity, Short nose |
ORPHA:2429 |
| Auriculocondylar Syndrome |
|
Low-set, posteriorly rotated ears, Dental crowding, Abnormal pinna morphology, Hamartoma of tongu... |
ORPHA:137888 |
| Miller-Dieker Syndrome |
|
Short nose, Anteverted nares, Polyhydramnios |
ORPHA:531 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Anemia, Limite... |
OMIM:616738 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Splenomegaly, Diarrhea, Rickets, Failure to thrive |
OMIM:211600 |
| Dend Syndrome |
|
Short nose, Anteverted nares, Thickened ears, Dehydration |
ORPHA:79134 |
| Waardenburg Syndrome Type 1 |
|
Underdeveloped nasal alae, Congenital sensorineural hearing impairment, Wide nasal bridge, Short ... |
ORPHA:894 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Depressed nasal bridge, Tremor, Bulbous nose, Wide nasal bridge, Overfolded helix, Macrotia, Shor... |
OMIM:617061 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Splenomegaly, Diarrhea, Rickets, Steatorrhea, Failure to thrive, Hypocholesterolemia |
OMIM:607765 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short nose, Depressed nasal ridge, Low-set ears |
ORPHA:163966 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Ataxia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Posteriorly rotated ears, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, A... |
OMIM:239300 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
| Gaucher Disease |
|
Osteopenia, Tremor, Osteoarthritis, Cherry red spot of the macula, Increased bone mineral density... |
ORPHA:355 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Sensorineural hearing impairme... |
OMIM:222448 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Small earlobe, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Oligohydramnios, ... |
ORPHA:364577 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia |
OMIM:598500 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Failure to thrive, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Low-set ears, ... |
OMIM:613026 |
| 16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Atresia of the extern... |
ORPHA:261236 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Joint stiffness, Cardiomegaly, Splenomegaly, Diarrhea, Aggressive behavior, Asymme... |
OMIM:252920 |
| Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Prominent nose, Obesity, Prominent nasal tip, S... |
ORPHA:439822 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Hypoglycemia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia |
OMIM:613658 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Polyhydramnios, Large for ges... |
OMIM:614080 |
| Hemochromatosis, Type 2A |
|
Splenomegaly, Increased serum iron, Increased circulating ferritin concentration |
OMIM:602390 |
| Adenylosuccinase Deficiency |
|
Short nose, Anteverted nares, Low-set ears, Opisthotonus |
OMIM:103050 |
| Potocki-Shaffer Syndrome |
|
Short nose, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:601224 |
| Acrodysostosis |
|
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Wide nasal bridge, Short nose, H... |
ORPHA:950 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares |
ORPHA:1185 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Small for gestational age, Akinesia, Hypochromic microcytic anemia, Vomiting, Failure to thrive, ... |
OMIM:619147 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Chronic diarrhea, Ileus, Arthritis, ... |
OMIM:304790 |
| Arthrogryposis, Distal, Type 2A |
|
Small for gestational age, Abnormal auditory evoked potentials, Underdeveloped nasal alae, Polyhy... |
OMIM:193700 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Conductive hearing impairment, Atresia of the external auditory canal, Simple ear |
OMIM:602471 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Achilles tendon calcification, Hyperphosphatemia, Metacarpal periosteal thickening, Hypercalcemia |
OMIM:617994 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Weight loss, Anemia, Leukop... |
ORPHA:507 |
| Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Macrocytic anemia, Osteomyelitis, Aplastic anemia, Transient neutr... |
ORPHA:811 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:277440 |
| Maxillonasal Dysplasia |
|
Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor... |
ORPHA:1248 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia... |
OMIM:617591 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Micrognathia, Microcytic anemia, Short toe, Talipes equinovarus, HbH hemoglobin |
ORPHA:98791 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Edema of the dorsum of feet, Ede... |
ORPHA:521426 |
| Addison Disease |
|
Normocytic anemia, Hyponatremia, Salt craving, Hypoglycemia, Hypercalcemia, Anorexia, Thiamine-re... |
ORPHA:85138 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Diarrhea, Le... |
ORPHA:98849 |
| Microphthalmia With Limb Anomalies |
|
Posteriorly rotated ears, Depressed nasal bridge, Flared nostrils, Low-set ears, Short nose, Fail... |
OMIM:206920 |
| Postencephalitic Parkinsonism |
|
Resting tremor, Oculogyric crisis, Akinesia, Vomiting, Dysphagia, Tremor by anatomical site |
ORPHA:97349 |
| Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Edema, Pericardial effusion, ... |
OMIM:617822 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Immunodeficiency 22 |
|
Pericarditis, Thrombocytopenia, Diarrhea, Protracted diarrhea, Retinal vasculitis, Panniculitis, ... |
OMIM:615758 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Diarrhea, Perimembranous ventricular septal defect, Vomiting, Camptodactyly, Fa... |
OMIM:608104 |
| Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy, Thrombocytopenia |
ORPHA:141184 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Diarrhea, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Depressed nasal bridge, Anteverted nares, Recurrent pneumonia, Low-set ears, Aspiration pneumonia... |
ORPHA:314655 |
| Down Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Obesity, Round ear, Conductive hearing impairment,... |
ORPHA:870 |
| Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Exaggerated startle response, Flexion contracture |
OMIM:618201 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Diarrhea, Tongue thrusting, Limb tr... |
OMIM:608643 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Small for gestational age, Sensorineural hearing impairment, Gout, Low-se... |
OMIM:300661 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Ventricular septal defect, Splenomegaly, Anemia, Atrial sept... |
ORPHA:290 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Anorexia, Thrombocytopenia, Leukocytosis, S... |
ORPHA:824 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Chronic diarrhea, Dilated cardiomyopathy, Osteoporosis, Leukopenia... |
OMIM:613989 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Hepat... |
ORPHA:158057 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Myelofibrosis, Increased RBC distribution width, Macrothrombocytopen... |
OMIM:187900 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Underdeveloped nasal alae, Joint swelling, Atresia of the external audi... |
OMIM:618175 |
| Peho Syndrome |
|
Anteverted nares, Palpebral edema, External ear malformation, Pedal edema, Peripheral edema, Shor... |
ORPHA:2836 |
| Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Joint stiffness, Rod-cone dystrophy, Diarrhea, Splenomegaly, Asymmetric septal hyp... |
OMIM:252930 |
| Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:113650 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joint stiffness, Chronic ... |
ORPHA:2176 |
| Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Cleft lip, Cleft palate, Downturned corners of mouth, Everted lower lip vermilion, Long eyelashes... |
OMIM:618089 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping, Micrognathia |
OMIM:617101 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Small for gestational age, Bulbous nose, Low-set ears, Round ear, Short n... |
OMIM:614114 |
| Noonan Syndrome 12 |
|
Lymphopenia, Tetralogy of Fallot, Ventricular septal defect, Thrombocytopenia |
OMIM:618624 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Wide nasal bridge, Low-set ears, Sho... |
OMIM:618529 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairm... |
OMIM:616331 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty... |
OMIM:241530 |
| Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Total intestinal aganglionosis, Neonatal d... |
OMIM:600501 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Atrial septal defect, Thrombocytopenia |
ORPHA:101028 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavi... |
ORPHA:98794 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Vomiting, Rickets |
OMIM:602722 |
| Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr... |
OMIM:617302 |
| Distal Deletion 10Q |
|
Failure to thrive, Prominent nasal bridge, Prominent nose, Congenital sensorineural hearing impai... |
ORPHA:96148 |
| Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Skin rash, Edema, Underdeveloped nasal alae, Recurrent pneumonia, Conjunc... |
OMIM:604173 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Impaired ristocetin-induced platelet aggregation, Giant platelets, M... |
OMIM:231200 |
| Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Atresia of the external auditory canal, Low-set ears, Sh... |
ORPHA:93259 |
| Tetrasomy 5P |
|
Posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose, Failure ... |
ORPHA:3309 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
| 8P23.1 Microdeletion Syndrome |
|
Prominent nasal bridge, External ear malformation, Wide nasal bridge, Obesity, Weight loss, Low-s... |
ORPHA:251071 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... |
ORPHA:760 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Dystonia, C... |
ORPHA:309246 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Akinesia, Flexion contracture, Increased susceptibility to fractures, Hypoplast... |
OMIM:253290 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Aggressive behavior, Tremor, Dysmetria, Dysphagia, Athetosis, Cardiomyopathy, Difficulty ... |
ORPHA:572798 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Normochromic anemia, Gastroesophageal reflux, Neutropenia, Atrial septal defect,... |
OMIM:614857 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Cachexia, Ileus, Athetosis, Joint hyperflexibility, Constipation, Dystonia... |
ORPHA:52503 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Bulbous nose, Wide nasal bridge, Protruding ear, Low-set ears, Short nose |
OMIM:618571 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v... |
OMIM:127550 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Diabetes mellitus, Hyperactivity, Short metatarsal, Advanced ossification of ca... |
OMIM:614613 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Acromicric Dysplasia |
|
Bulbous nose, Anteverted nares, Short nose |
ORPHA:969 |
| Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
| Craniosynostosis And Dental Anomalies |
|
Stapes ankylosis, Wide nose, Depressed nasal bridge, Convex nasal ridge, Absent malleus, Conducti... |
OMIM:614188 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Alopecia totalis, Alopecia universalis, Acantholysis |
OMIM:609638 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
| Mevalonic Aciduria |
|
Optic disc pallor, Normocytic hypoplastic anemia, Ataxia, Failure to thrive in infancy, Fluctuati... |
OMIM:610377 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Diarrhea, Splenome... |
OMIM:278000 |
| Congenital Myopathy 12 |
|
Small for gestational age, Akinesia, Jaw contracture, Camptodactyly, Joint contracture of the hand |
OMIM:612540 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Short nose, Failure to thrive, Anteverted nares, Low-set ears |
OMIM:219200 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
| Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Hyperactivity, Joint stiffness, Splenomegaly, Diarrhea, Asymmetric septal hypert... |
OMIM:252900 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Xanthelasma, Stomato... |
OMIM:210250 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
| Velocardiofacial Syndrome |
|
Talipes, Hypocalcemia, Aggressive behavior |
OMIM:192430 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Joint contracture, Failu... |
OMIM:617864 |
| Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Splenomegaly, Abnormal foot morphology, Hypocalcemia,... |
ORPHA:2136 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Arthritis, Leukopenia, Thrombocytopenia |
OMIM:152700 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial effusion, Thr... |
OMIM:613011 |
| Aicardi-Goutieres Syndrome 5 |
|
Flexion contracture, Thrombocytopenia |
OMIM:612952 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
| Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose, Obesity |
OMIM:611936 |
| Infantile Myofibromatosis |
|
Abnormal metaphysis morphology, Hypercalcemia |
ORPHA:2591 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Gastroesophageal reflux, Fa... |
ORPHA:90045 |
| Gaucher Disease Type 3 |
|
Mitral valve calcification, Increased bone mineral density, Ataxia, Abnormal heart valve morpholo... |
ORPHA:77261 |
| Distal Duplication 5Q |
|
Eczema, Prominent nasal bridge, Low-set ears, Short nose, Macrotia |
ORPHA:96097 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Polydipsia, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydac... |
OMIM:615986 |
| Mucopolysaccharidosis Type 3 |
|
Mixed hearing impairment, Thickened helices, Adenoiditis, Abnormality of the middle ear ossicles,... |
ORPHA:581 |
| Ethylene Glycol Poisoning |
|
Addictive alcohol use, Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
| Monosomy 13Q34 |
|
Pes planus, Hypercalcemia, Micrognathia, Insulin resistance, Postaxial hand polydactyly, Postaxia... |
ORPHA:96168 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epiphyses, Short tibia... |
ORPHA:96334 |
| Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Cupped ear, Low-set ears, S... |
OMIM:602398 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... |
OMIM:617301 |
| Bainbridge-Ropers Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... |
OMIM:615485 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Short nose, Wide nasal bridge, Hearing impairment, Broad nasal tip |
OMIM:614749 |
| Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Choanal atresia, Low-set ears, Stenosis of the external auditory canal, S... |
ORPHA:93260 |
| Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Polyhydramnios, Choanal stenosis, Low-set ears, Short nose |
ORPHA:1790 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Rickets of the lower limbs |
ORPHA:882 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Ventricular septal defect, Splenomegaly, Chronic diarrhea, Optic atrophy, Inflammat... |
OMIM:614576 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
| C Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose, Failure ... |
OMIM:211750 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Keratoconjunctivitis sicca, Short nose, Macrotia, Anteverted nares |
OMIM:234050 |
| Achondrogenesis |
|
Short nose, Anteverted nares, Hydrops fetalis, Polyhydramnios |
ORPHA:932 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Sandal gap, Aggressive behavior, Long fingers, Hair-pulling, Polyphagia, Cutaneous s... |
OMIM:620330 |
| Overlap Myositis |
|
Abnormal heart morphology, Arthritis, Leukopenia, Abnormality of connective tissue, Rheumatoid ar... |
ORPHA:206572 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Diarrhea, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Colitis, Stea... |
ORPHA:309031 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
| Cenani-Lenz Syndrome |
|
Short nose, Convex nasal ridge, Hearing impairment, Protruding ear |
ORPHA:3258 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Tremor, Thrombocytope... |
OMIM:214500 |
| Igg4-Related Thyroid Disease |
|
Hypocalcemia, Dysphagia |
ORPHA:64744 |
| Aarskog-Scott Syndrome |
|
Anteverted nares, Wide nasal bridge, Large earlobe, Short nose, Failure to thrive |
OMIM:305400 |
| Prolidase Deficiency |
|
Depressed nasal bridge, Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Concave na... |
OMIM:170100 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
| Van Maldergem Syndrome 2 |
|
Depressed nasal bridge, Sensorineural hearing impairment, Wide nasal bridge, Microtia, Atresia of... |
OMIM:615546 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Edema, Low-set ears, Short nose, Failure ... |
OMIM:617527 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
| Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Macrotia, Protruding ear, Keratoconjunctivitis sicca, Erythroderma, Sh... |
OMIM:601675 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Failure to thrive, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdevelop... |
OMIM:300912 |
| Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares |
ORPHA:1915 |
| Gaucher Disease, Type I |
|
Pancytopenia, Macular atrophy, Hypersplenism, Thrombocytopenia, Splenomegaly, Pathologic fracture... |
OMIM:230800 |
| Neurofaciodigitorenal Syndrome |
|
Prominent nasal bridge, External ear malformation, Abnormal tragus morphology, Abnormal antitragu... |
ORPHA:2673 |
| Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Diabetes mellitus, Abnormal pelvis b... |
ORPHA:249 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Depressed nasal bridge, Anteverted nares, Large for gestational age, Low-set ears, Short nose |
OMIM:615398 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Colitis, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Warburg Micro Syndrome 2 |
|
Short nose, Macrotia, Prominent nasal bridge, Asymmetry of the ears |
OMIM:614225 |
| Juvenile Polyposis Syndrome |
|
Clubbing of fingers, Hypoproteinemia, Anemia |
ORPHA:2929 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Failur... |
OMIM:226990 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Rickets of the lower limbs, Lower limb asymmetry, Abnormal sacroiliac joi... |
ORPHA:289176 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, B lymphocytopenia, Failure to thrive, Decreased proportio... |
OMIM:618048 |
| Micro Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Short nose, Macrotia |
ORPHA:2510 |
| Arthrogryposis Multiplex Congenita 6 |
|
Arthrogryposis multiplex congenita, Akinesia |
OMIM:619334 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Recurrent fractures, Optic atrophy, R... |
OMIM:268315 |
| Stt3B-Cdg |
|
Failure to thrive, Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
| Diamond-Blackfan Anemia 11 |
|
Stenosis of the external auditory canal, Atresia of the external auditory canal |
OMIM:614900 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Achalasia, Thrombocytopenia, Dysphagia |
OMIM:615750 |
| 3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Macrotia, Low-set ears, Short nose, Failure to thrive |
ORPHA:65286 |
| 22Q11.2 Deletion Syndrome |
|
Arachnodactyly, Micrognathia, Splenomegaly, Hand polydactyly, Hypoplasia of the thymus, Foot poly... |
ORPHA:567 |
| Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Hearing impairment |
OMIM:166220 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Abnormal opti... |
ORPHA:3226 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Inability to walk, Optic atrophy, Dysmetria, Dysphagia, Hep... |
ORPHA:845 |
| Toriello-Lacassie-Droste Syndrome |
|
Anteverted nares, Polyhydramnios, Abnormality of the ear, Short nose, Failure to thrive, Hearing ... |
ORPHA:3339 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Abnormal pinna morphology, Choanal atresia, Absent tragus, Anosmia, Aplasia of the nose, Atresia ... |
OMIM:603457 |
| Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Choanal atresia |
ORPHA:83 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Hematemesis, Osteolysis involving bones of the uppe... |
ORPHA:464321 |
| Achondrogenesis Type 1B |
|
Short nose, Anteverted nares, Hydrops fetalis, Polyhydramnios |
ORPHA:93298 |
| Diaphanospondylodysostosis |
|
Depressed nasal bridge, Increased nuchal translucency, Depressed nasal ridge, Low-set ears, Short... |
OMIM:608022 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Optic atrophy, Thrombocytopenia |
OMIM:615597 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Farber Disease |
|
Thrombocytopenia, Chronic diarrhea, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Arthri... |
ORPHA:333 |
| Seckel Syndrome 1 |
|
11 pairs of ribs, Pes planus, Pancytopenia, Ivory epiphyses, Sandal gap, Abnormal finger flexion ... |
OMIM:210600 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Dilated cardiomyopathy, Flexion contracture, My... |
OMIM:253800 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
| Desmosterolosis |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormality of the nose, Abnormal earl... |
ORPHA:35107 |
| Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
| Congenital Myopathy 9A |
|
Obesity, Akinesia |
OMIM:618822 |
| Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Cardiomegaly, Chronic diarrhea, Hepatosplenomegaly, Cherry ... |
OMIM:268800 |
| Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Diabetes mellitus, Abnormal erythrocyte enzyme leve... |
ORPHA:101330 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia |
OMIM:603585 |
| 19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Increased nuchal translucency, Low-set ears, Short nose... |
ORPHA:357001 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
| Lowry-Maclean Syndrome |
|
Choanal atresia, Low-set ears, Short nose, Short nasal bridge, Convex nasal ridge |
ORPHA:2409 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Van Maldergem Syndrome 1 |
|
Sensorineural hearing impairment, Wide nasal bridge, Microtia, Atresia of the external auditory c... |
OMIM:601390 |
| Preeclampsia |
|
Small for gestational age, Thrombocytopenia |
ORPHA:275555 |
| Achondrogenesis Type 1A |
|
Short nose, Anteverted nares, Hydrops fetalis, Polyhydramnios |
ORPHA:93299 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Obesity |
OMIM:619854 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Diabetes mellitus, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Pes planus, Hyperactivity, Arachnodactyly, Attention deficit hyperactivity disorder, Recurrent ha... |
OMIM:617600 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Anteverted nares, Obesity, Short nose, Failure to thrive, Hearing impairment |
ORPHA:96147 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Short nose, Anteverted nares, Low-set ears, Sensorineural hearing impairment |
OMIM:612394 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Ataxia, Osteoporosis, Exudative retinopathy, Leukopenia, Thrombocy... |
OMIM:613990 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Prominent nose, Bulbous nose, Cupped ear, Depressed nasal ridge, Protruding ear, Short columella,... |
OMIM:156200 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Low-set ears, Short nose |
OMIM:618590 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Osteomalacia, Reduced bone mineral density, Hypophosphatemic rickets, Pathologic f... |
ORPHA:157215 |
| Miller-Dieker Lissencephaly Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Polyhydramnios, Wide nasal bridge, Low-set ears, Shor... |
OMIM:247200 |
| Schimke Immunoosseous Dysplasia |
|
Waddling gait, Osteopenia, Pancytopenia, Small for gestational age, Thrombocytopenia, Abnormal T ... |
OMIM:242900 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Mixed hearing impairment, Depressed nasal bridge, Choanal atresia, Polyhydramnios, Underdeveloped... |
OMIM:620186 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Insulin ... |
ORPHA:2298 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Flexion contracture, Neutropenia, Opisthotonus, Choreoathetosis, Leukopenia, Dyst... |
OMIM:616271 |
| Baller-Gerold Syndrome |
|
Narrow nasal bridge, Failure to thrive in infancy, Prominent nasal bridge, Conductive hearing imp... |
ORPHA:1225 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Increased mean corpuscular volume, Megaloblastic anemia, Dystonia |
OMIM:277410 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Sensorineu... |
ORPHA:540 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Splenomegaly, Elevated transfer... |
ORPHA:465508 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Recurrent aphthous s... |
OMIM:301078 |
| Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Knee osteoarthritis, ... |
OMIM:154780 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618577 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Failure to ... |
ORPHA:51608 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose |
ORPHA:2598 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Self-injurious behavior, Constipation, Limb dystonia, Atrial septal defect, Ab... |
ORPHA:457351 |
| Oslam Syndrome |
|
Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Fetal Gaucher Disease |
|
Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Arthrogryposis multip... |
ORPHA:85212 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
| Cardiofaciocutaneous Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Polyhydramnios, Bulbous nose,... |
OMIM:115150 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Optic nerve hypoplasia, Craniosynostosis, Small for gestational age, L... |
OMIM:301056 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Polyhydramnios, Wide nasal bridge, Microtia, Short columella, Low-set ears, Short nose |
OMIM:613603 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Intermittent diarrhea, Failure t... |
OMIM:619644 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Depressed nasal bridge, Posteriorly rotated ears, Microtia, Low-set ears, Short nose, Hearing imp... |
OMIM:601353 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short nose, Sensorineural hearing impairment, Wide nasal bridge, Broad nasal tip |
OMIM:614207 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Inability to walk, Thrombocytopenia, Flexion contracture, Optic atrophy, Splenomegaly, Leukopenia... |
OMIM:617303 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Dilated cardiomyopathy, Increased mean corpusc... |
ORPHA:261250 |
| Chops Syndrome |
|
Anteverted nares, Obesity, Aspiration pneumonia, Thickened helices, Short nose, Hearing impairment |
OMIM:616368 |
| Transaldolase Deficiency |
|
Pancytopenia, Ventricular septal defect, Small for gestational age, Thrombocytopenia, Splenomegal... |
OMIM:606003 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose |
ORPHA:833 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Failure to thrive in infancy, Tongue thrusting, Bruxism, Anemia, Self-injurious be... |
ORPHA:261323 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocyto... |
ORPHA:391673 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Weight loss, Leukopenia, Addictive alcoho... |
ORPHA:520 |
| Opsismodysplasia |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Edema, Polyhydramnios, Low-se... |
OMIM:258480 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... |
OMIM:139090 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short nose, Microtia, Depressed nasal bridge, Low-set ears |
OMIM:616723 |
| Wilson Disease |
|
Limb dystonia, Hemolytic anemia, Osteomalacia, Tremor, Thrombocytopenia, Osteoarthritis, Splenome... |
OMIM:277900 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Extramedullary hematopoiesis, Rickets, Steatorrhea |
ORPHA:79303 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... |
OMIM:603909 |
| 1P21.3 Microdeletion Syndrome |
|
Short nose, Obesity, Long ear, Broad nasal tip |
ORPHA:293948 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
| Fetal Akinesia Deformation Sequence |
|
Arthrogryposis multiplex congenita, Multiple joint contractures, Camptodactyly of finger, Akinesia |
ORPHA:994 |
| Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
| Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Osteoarthritis, Wide ... |
ORPHA:560 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune th... |
OMIM:614700 |
| Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip |
OMIM:137550 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Neutropenia, B lymphocytopenia, Recurrent aphthou... |
OMIM:150550 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Dilated cardiomy... |
ORPHA:398124 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, Small for gestational age |
ORPHA:289266 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Hyperextensibility of the finger joints, Hip contracture, Internally rotated sh... |
OMIM:619503 |
| Otopalatodigital Syndrome, Type I |
|
Conductive hearing impairment, Short nose, Wide nasal bridge |
OMIM:311300 |
| Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Underdeveloped nasal alae, Uvei... |
OMIM:164200 |
| Holocarboxylase Synthetase Deficiency |
|
Anorexia, Ataxia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
| Cole Disease |
|
Punctate palmoplantar hyperkeratosis, Hyperglycemia, Palmoplantar keratoderma, Abnormal blood pho... |
OMIM:615522 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Depressed nasal bridge, Anteverted nares, Bulbous nose, Dystonia, Short nose |
OMIM:614105 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Mixed hearing impairment, Broad nasal tip, Increased nuchal translucency, Depressed nasal ridge, ... |
ORPHA:79345 |
| Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Increased nuc... |
OMIM:200600 |
| Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the fundus, Throm... |
OMIM:614171 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose, Cachexia |
ORPHA:1389 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Splenomegaly, Increased circulating ferritin concentration, Glucose intoleranc... |
OMIM:235200 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Dysphagia, Intention tremor, Th... |
OMIM:254900 |
| Harel-Yoon Syndrome |
|
Short nose, Dystonia |
OMIM:617183 |
| Thyrocerebroretinal Syndrome |
|
Ataxia, Thrombocytopenia |
OMIM:274240 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Abnormal natural killer cell count, Anemia, Hemophagocytosis,... |
ORPHA:158061 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Small for gestatio... |
OMIM:257300 |
| Orofaciodigital Syndrome X |
|
Telecanthus, Cleft palate |
OMIM:165590 |
| 17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Failure to thrive in infancy, Wide nasal bridge, Truncal obesity, Microtia, Recurre... |
ORPHA:529962 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
| Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Camptodactyly, Enamel hypoplasia, Thrombocytopenia |
OMIM:619980 |
| Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares |
ORPHA:59315 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Cardiospondylocarpofacial Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Congenital sensorineural hearing impairment, Bulbous ... |
OMIM:157800 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Anteverted nares, Broad nasal tip, Prominent nasolabial fold, Low-set ears, Short nose, Failure t... |
ORPHA:357074 |
| Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Dystonia, Umbilical hernia, Failure to thrive, Patent foramen ovale, Thrombocytopenia |
OMIM:251290 |
| Shigellosis |
|
Failure to thrive in infancy, Anorexia, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia,... |
ORPHA:810 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Small for gestational age, Atrial septal defect, Arthrogryposis multip... |
OMIM:208085 |
| Kleefstra Syndrome |
|
Anteverted nares, Obesity, Thickened helices, Short nose, Chronic otitis media, Hearing impairment |
ORPHA:261494 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Hypertriglyceridemia, Abnormal heart valve morphology, Ataxia, Autoimmune thrombocyto... |
ORPHA:77293 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Cerebrooculonasal Syndrome |
|
Anteverted nares, Prominent nasal bridge, Proboscis, Posteriorly rotated ears, Low-set ears, Cond... |
OMIM:605627 |
| Warburg Micro Syndrome 3 |
|
Short nose, Macrotia |
OMIM:614222 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Small for gestational age, Pure red cell aplas... |
ORPHA:124 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Peho Syndrome |
|
Short nose, Edema of the dorsum of feet, Edema, Edema of the dorsum of hands |
OMIM:260565 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Sensorineural hearing impairment, Low-set ears, Short nose, Failure to thrive |
OMIM:608779 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent skin infections, External ear malformation, Protrudi... |
ORPHA:2953 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Vomiting, Thrombocytopenia |
OMIM:243500 |
| Alg12-Cdg |
|
Retinal detachment, Muscular ventricular septal defect, Biventricular hypertrophy, Abnormal bone ... |
ORPHA:79324 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation |
OMIM:618056 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Severe sensorineural hearing impairment, Short nose, Low-set ears |
ORPHA:363417 |
| White-Kernohan Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Low-set ears, Recur... |
OMIM:619426 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Failure to thrive in infancy, Thrombocytopenia, Giant platelets, Camptodactyly, Left ... |
OMIM:611209 |
| Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Abnormal pinna morphology, Anteverted nares, Hydrops fetalis, Low-set ear... |
OMIM:228520 |
| Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Agitation, Hyperuricemia, Oral aversion, Th... |
ORPHA:134 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Diarrhea, Rickets, Reduced bone mineral density, Increased suscep... |
ORPHA:18 |
| Digeorge Syndrome |
|
Micrognathia, Splenomegaly, Anemia, Hypoplasia of the thymus, Hypocalcemia, Patellar dislocation,... |
OMIM:188400 |
| Mirage Syndrome |
|
Radial club hand, Thrombocytopenia, Chronic diarrhea, Hypoplastic spleen, Leukopenia, Gastroesoph... |
OMIM:617053 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Short nose, Polyhydramnios, Depressed nasal bridge, Low-set ears |
ORPHA:1812 |
| 3C Syndrome |
|
Short nose, Depressed nasal bridge, Wide nasal bridge, Low-set ears |
ORPHA:7 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose, Osteoarthritis |
OMIM:618618 |
| Verheij Syndrome |
|
Small for gestational age, Anteverted nares, Broad nasal tip, Wide nasal bridge, Short nose |
OMIM:615583 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
| Snakebite Envenomation |
|
Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Thrombocytopenia |
ORPHA:449285 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
| Raine Syndrome |
|
Mixed hearing impairment, Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Abno... |
OMIM:259775 |
| Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Hearing impairment |
OMIM:166200 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Atrial septal defect, Patent forame... |
OMIM:620327 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Ventricular septal defect, Small for gestational age, Pericardial effusion, Normochr... |
OMIM:618775 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
| Ayme-Gripp Syndrome |
|
Pericarditis, Depressed nasal bridge, Posteriorly rotated ears, Sensorineural hearing impairment,... |
OMIM:601088 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Bulbo... |
OMIM:618454 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Depressed nasal bridge, Posteriorly ro... |
OMIM:123790 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Rhizomelia, Iliac crest serration, Hypoplasia... |
ORPHA:239 |
| Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Inability to walk, Cardiomyopathy, Dystonia, Self-mutilation, Thrombocytopenia |
OMIM:225750 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Abnormality of the nose, Underdeveloped nasal alae, Extern... |
ORPHA:2710 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Wide nasal bridge, Microtia, Short nose, Hearing impairment |
ORPHA:2282 |
| Trisomy 10P |
|
Depressed nasal bridge, Anteverted nares, Abnormal auditory evoked potentials, Abnormality of the... |
ORPHA:171929 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Anorexia, Throm... |
OMIM:557000 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Abnormal pinna morphology, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:217980 |
| Vipoma |
|
Diabetes mellitus, Hypercalcemia, Anorexia, Normochromic anemia, Hypokalemia |
ORPHA:97282 |
| Acrocephalopolydactylous Dysplasia |
|
Short nose, Ascites, Abnormal pinna morphology, Low-set ears |
OMIM:200995 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Anorexia, Imbalanced hemoglobin synthesis, Abnormal T ce... |
ORPHA:330015 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Leukopenia, Vomiting, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:251000 |
| Sea-Blue Histiocytosis |
|
Splenomegaly, Retinopathy, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Cherry red spot of the macula, Exaggerated startle response, Mitral valve pro... |
ORPHA:309155 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Athetosis, Short nose |
ORPHA:2719 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Stomatitis, Dextrocardia, Small for gestational age, Megaloblastic anemia, Thromboc... |
OMIM:277380 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
| Trigonocephaly 1 |
|
Short nose, Wide nasal bridge |
OMIM:190440 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... |
OMIM:214800 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, Neutropenia, Umbilical hernia, Failure to thrive, Thrombocytop... |
OMIM:614520 |
| Nablus Mask-Like Facial Syndrome |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Overfolded... |
OMIM:608156 |
| Marshall-Smith Syndrome |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Recurrent upper respiratory tract infe... |
OMIM:602535 |
| Lathosterolosis |
|
Anteverted nares, Bulbous nose, Short nose, Failure to thrive, Hearing impairment |
ORPHA:46059 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Abnormal repetitive mannerisms, Retinal degeneration, Opposi... |
ORPHA:580 |
| Relapsing Fever |
|
Neutrophilia, Thrombocytopenia, Leukocytosis, Diarrhea, Leukopenia, Vomiting, Anemia |
ORPHA:91547 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Anteverted nares, Cachexia, Lymphedema, Short nose, Macrotia, Hashimoto thyroiditis |
ORPHA:109 |
| Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Wide nose, Polyhydramnios, Short nose |
ORPHA:1394 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:618961 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... |
ORPHA:331206 |
| Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Prominent nasal bridge, Sensorineural hearing impairment, Corneal stro... |
OMIM:601812 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... |
OMIM:308240 |
| Glucagonoma |
|
Diabetes mellitus, Hypercalcemia, Anorexia, Acanthocytosis, Normochromic anemia |
ORPHA:97280 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Sensorineural hearing impairm... |
OMIM:301040 |
| Tetrasomy 12P |
|
Short nose, Anteverted nares, Cachexia |
ORPHA:884 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Recurrent fractures, Osteomalacia, Primary hypercortisolism, Fibrous dysplasia of t... |
ORPHA:562 |
| Somatostatinoma |
|
Diabetes mellitus, Hypercalcemia, Hypochromic microcytic anemia, Anorexia |
ORPHA:97283 |
| Otopalatodigital Syndrome Type 2 |
|
Abnormal pinna morphology, Depressed nasal bridge, Low-set ears, Short nose, Failure to thrive, H... |
ORPHA:90652 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Gastroesophageal reflux |
OMIM:620114 |
| Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Tremor, Anemia, Vomiting, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:251100 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Hypocalcemic seizures, Femur fracture, Anemia |
OMIM:612301 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Akinesia, Limb dystonia |
OMIM:616840 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
| Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Myocarditis, Retinal arterial occlusion, Arthritis, Coombs-posit... |
ORPHA:464343 |
| Lysinuric Protein Intolerance |
|
Recurrent fractures, Thrombocytopenia, Diarrhea, Splenomegaly, Osteoporosis, Leukopenia, Truncal ... |
OMIM:222700 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling, Rickets |
OMIM:219900 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Exaggerated startle response, Broad-based gait, Bicuspid aortic valve, ... |
ORPHA:438213 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
| Castleman Disease |
|
Myelofibrosis, Intestinal obstruction, Thrombocytopenia, Weight loss, Decreased mean corpuscular ... |
ORPHA:160 |
| Congenital Myopathy 22B, Severe Fetal |
|
Nonimmune hydrops fetalis, Polyhydramnios, Wide nasal bridge, Pleural effusion, Low-set ears, Sho... |
OMIM:620369 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia |
OMIM:614618 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... |
ORPHA:86839 |
| Brucellosis |
|
Anorexia, Knee osteoarthritis, Leukopenia, Vomiting, Nausea, Leukocytosis, Anemia, Hypersplenism,... |
ORPHA:1304 |
| Fraser Syndrome 2 |
|
Wide nose, Underdeveloped nasal alae, Atresia of the external auditory canal, Low-set ears, Oligo... |
OMIM:617666 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Depressed nasal ridge, Short nose |
ORPHA:2831 |
| Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Diarrhea, Arthritis, Leukopenia, Vomiting, Microangiopathic hemolytic anemi... |
ORPHA:93552 |
| Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Thrombocytopenia, Dysmetria, Supravalvar pulmonary steno... |
OMIM:620185 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Anteverted nares, Posteriorly rotated ears, Polyhydramnios, Large for gestational age,... |
OMIM:213980 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Microtia, Short nose, Hearing... |
OMIM:227330 |
| Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormal antihelix morphology, Anotia,... |
ORPHA:261112 |
| Developmental And Epileptic Encephalopathy 75 |
|
Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618437 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia |
OMIM:614619 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Cor triatriatum, Inguinal hernia, Intermittent thrombocytopenia, Secundum atri... |
OMIM:612541 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Aregenerative Anemia |
|
Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, Ne... |
ORPHA:101096 |
| Trisomy 20P |
|
Low-set, posteriorly rotated ears, Anteverted nares, Protruding ear, Abnormal antihelix morpholog... |
ORPHA:261318 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Sparse eyelashes, Abnormal dental enamel morp... |
ORPHA:1071 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Joint stiffness, Inability to walk, Thrombocytopenia, Flexio... |
ORPHA:505248 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Short thumb, Ab... |
OMIM:105650 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Failure to thrive, Rickets, Hypertriglyceridemia |
ORPHA:2088 |
| Mogs-Cdg |
|
Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Chronic constipation, Dystonia, Atrial septal de... |
ORPHA:79330 |
| Kaufman Oculocerebrofacial Syndrome |
|
Depressed nasal bridge, Abnormal pinna morphology, Anteverted nares, Low-set ears, Short nose, Fa... |
OMIM:244450 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose |
OMIM:615042 |
| Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Failure to thrive in... |
ORPHA:1340 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Epicanthus, Cleft upper lip, Esophageal atresia, Facial cleft, Ectopic anus, Long philtrum, Bifid... |
ORPHA:93271 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Low-set ears, Short nose, Failure to thrive |
OMIM:613457 |
| Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose |
ORPHA:1514 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Melena, Leukopenia, Vomiting, Dysphagia, Lymphopenia, Naus... |
ORPHA:319218 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Wide nose, Prominent nasal bridge, Low-set ears, Short nose, Abnormality of the outer ear, Convex... |
ORPHA:251028 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Joint contracture, Akinesia |
OMIM:225790 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Hypertriglyceridemia, Hypercholesterolemia, Thrombocytopenia, Diarrhea, Osteoporosis,... |
ORPHA:470 |
| 5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares |
ORPHA:228384 |
| 14Q22Q23 Microdeletion Syndrome |
|
Posteriorly rotated ears, Underdeveloped nasal alae, Cupped ear, Atresia of the external auditory... |
ORPHA:264200 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Tularemia |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:3392 |
| Lujo Hemorrhagic Fever |
|
Resting tremor, Stiff neck, Myocarditis, Diarrhea, Leukocytosis, Leukopenia, Vomiting, Dysphagia,... |
ORPHA:319213 |
| Leptospirosis |
|
Hyperproteinemia, Thrombocytopenia, Anorexia |
ORPHA:509 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Diarrhea, Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Thr... |
OMIM:235400 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Diarrhea, Anemia, Fatigable weakness, Dysphagia, Thrombocytopenia |
ORPHA:169105 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Recurrent pneumonia, Wide nasal bridge, Short nose, Failure to thrive |
OMIM:619179 |
| Orofaciodigital Syndrome Type 4 |
|
Wide nose, Microtia, third degree, Posteriorly rotated ears, Choanal atresia, Abnormality of the ... |
ORPHA:2753 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Thrombocytopenia... |
ORPHA:292 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Smith-Kingsmore Syndrome |
|
Large for gestational age, Short nose, Depressed nasal bridge, Decreased circulating IgA level |
OMIM:616638 |
| Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Ataxia, Increased mean platelet volume, Optic atrophy, Abnormal cardiac septum m... |
OMIM:616737 |
| Ear-Patella-Short Stature Syndrome |
|
Microtia, third degree, Posteriorly rotated ears, Anotia, Atresia of the external auditory canal,... |
ORPHA:2554 |
| Peroxisome Biogenesis Disorder 4B |
|
Short nose, Sensorineural hearing impairment |
OMIM:614863 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Thrombocytopenia, Pericarditis, Anemia |
ORPHA:231111 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:210548 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Macular coloboma, Megaloblastic anemia, Thrombocytopenia, Dilated cardiomyopathy, Optic a... |
ORPHA:79282 |
| Au-Kline Syndrome |
|
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Sensorineur... |
OMIM:616580 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Depressed nasal bridge, Posteriorly rotated ears, Pericardial effusion, Sensorineur... |
ORPHA:1272 |
| Toriello-Carey Syndrome |
|
Abnormal pinna morphology, Anotia, Low-set ears, Thickened helices, Short nose, Hearing impairment |
ORPHA:3338 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short nose, Anteverted nares |
OMIM:619356 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Short nose, Prominent nasal bridge, Wide nasal bridge |
ORPHA:401935 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Splenomegaly, Increased total iron binding capacit... |
ORPHA:309854 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Dent Disease 1 |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose, Hearing im... |
OMIM:616894 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Pericardial effusion, Hematemesis, Diarrhea, ... |
OMIM:615846 |
| Tick-Borne Encephalitis |
|
Stiff neck, Anorexia, Tremor, Leukocytosis, Leukopenia, Vomiting, Dysphagia, Fatigable weakness o... |
ORPHA:297 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Dysphagia, Decreased serum zin... |
ORPHA:89842 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Anemia, Failure to thrive, Thrombocytopenia |
ORPHA:3322 |
| Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Polyhydramnios, Low-set ear... |
OMIM:609942 |
| Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Short ear, Prominent inferior crus of antihelix, Anteverted nares, Depressed... |
OMIM:618332 |
| Occipital Horn Syndrome |
|
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... |
ORPHA:198 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Short nose, Failure to thrive, Depressed nasal bridge, Broad columella |
OMIM:617865 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Myocardial fibrosis, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Small for gestational age, Thrombocytopenia, Hyperlipidemia, Decreased proport... |
ORPHA:1830 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Bulbous nose, Wide... |
OMIM:613458 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Chorioretinal dysplasia, Gastroesophageal reflux, Compulsive behaviors, Abnormal repetitive manne... |
ORPHA:534 |
| Griscelli Syndrome |
|
Ataxia, Abnormality of neutrophils, Splenomegaly, Leukopenia, Thrombocytopenia |
ORPHA:381 |
| Treacher Collins Syndrome 1 |
|
Conductive hearing impairment, Atresia of the external auditory canal, Microtia, Choanal atresia |
OMIM:154500 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia |
OMIM:613845 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Diarrhea... |
ORPHA:79124 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Chronic diarrhea, Chronic constipation, Attention deficit hyp... |
OMIM:619005 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Atresia of the external auditory canal, Abnormality of the outer ear, Aplasia of the nose, Hearin... |
ORPHA:3186 |
| Boutonneuse Fever |
|
Leukopenia, Diarrhea, Nausea, Thrombocytopenia |
ORPHA:83313 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Sensorineural hearing impairment, Keratoconjun... |
OMIM:616007 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anteverted nares, Tremor, Increased nuchal translucency, Overfolded helix, Large fleshy ears, Ath... |
ORPHA:280633 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Vomiting, Increased mean platelet volume |
OMIM:300048 |
| Pallister-Hall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Posteriorly rotated ears, Microtia, At... |
OMIM:146510 |
| Ablepharon Macrostomia Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Microtia, Atresia of the ext... |
ORPHA:920 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Hematemesis, Thrombocytopeni... |
ORPHA:906 |
| 9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares |
DECIPHER:52 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Diarrhea,... |
ORPHA:391487 |
| Desbuquois Dysplasia 1 |
|
Depressed nasal bridge, Osteoarthritis, Obesity, Concave nasal ridge, Short nose |
OMIM:251450 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
| Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Akinesia, Tremor, Dysphagia, Falls, Gait imbalance, Retrocollis, Limb dystonia |
OMIM:601104 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Fatigable weakness, Hypertrophic cardiomyopathy, Failure to thrive, Throm... |
ORPHA:99901 |
| Q Fever |
|
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Myo... |
ORPHA:781 |
| Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Anemia, Vomiting, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:251110 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital th... |
OMIM:605432 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Short nose, Low-set ears |
ORPHA:457279 |
| Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Postural tremor, Akinesia, Falls, Gait imbalance, Retrocollis, Dysphagia |
OMIM:609454 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta |
OMIM:612783 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Small for gestational age, Thrombocytopenia, Flexion con... |
OMIM:227645 |
| Blomstrand Lethal Chondrodysplasia |
|
Depressed nasal bridge, Anteverted nares, Polyhydramnios, Hydrops fetalis, Low-set ears, Short nose |
ORPHA:50945 |
| Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Peritonitis, Enterocolitis, Cellulitis, Decreased eosinophil count, Lymphopen... |
ORPHA:2686 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Chronic diarrhea, Dila... |
ORPHA:3260 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Depressed nasal bridge, Posteriorly rotated ears, Small for gestational age, Broad nasal tip, Bul... |
OMIM:309590 |
| African Trypanosomiasis |
|
Papilledema, Pericarditis, Akinesia, Aggressive behavior, Tremor, Myocarditis, Diarrhea, Splenome... |
ORPHA:3385 |
| Pallister-Hall-Like Syndrome |
|
Short nose, Depressed nasal bridge |
OMIM:241800 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Short nose, Failure to thrive |
OMIM:613038 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Diarrhea, Steatorrhea, Neutropenia, Failure to thrive, Thrombocytopenia, Exocr... |
OMIM:617941 |
| Microlissencephaly-Micromelia Syndrome |
|
Short nose, Failure to thrive, Palpebral edema, Polyhydramnios |
ORPHA:50810 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Pigmentary retinopathy, Constipation, Vomiting, Polydipsia, Failure to thrive |
ORPHA:411629 |
| Noonan Syndrome 4 |
|
Ventricular septal defect, Large for gestational age, Pulmonic stenosis, Atrial septal defect, Hy... |
OMIM:610733 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Tremor, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
| Holoprosencephaly 1 |
|
Facial cleft, Median cleft lip and palate |
OMIM:236100 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Self-injurious behavior, Talipes equinovarus, Clinodactyly of the 5th finger... |
ORPHA:847 |
| Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Erythroid hypoplasia, Chronic diarrhea, Obesity, Anemia, Thrombocy... |
OMIM:620072 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Weight loss |
ORPHA:90060 |
| Meier-Gorlin Syndrome 1 |
|
Small for gestational age, Microtia, Atresia of the external auditory canal, Low-set ears, Incomp... |
OMIM:224690 |
| Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Torticollis, Depressed nasal bridge, Underdeveloped nasal alae... |
ORPHA:79328 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... |
ORPHA:70578 |
| Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Edema, Abnormal... |
ORPHA:178320 |
| Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Opisthotonus, Arthrogryposi... |
ORPHA:2671 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Odontochondrodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:166272 |
| Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Failure to thrive, Anteverted nares, Posteriorly rotated ears, Eczema, Bulbo... |
OMIM:601358 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Abnormal heart morphology, Anemia, Ne... |
OMIM:600901 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Overfolded helix, Short nose |
ORPHA:1974 |
| Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Fractures of the long bones, Thrombocytopenia, Splenomegaly, Osteolysis, He... |
ORPHA:464329 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Thrombocytopenia |
ORPHA:3002 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Thrombocytopenia, Constipation, Anemia |
OMIM:619743 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Rod-cone dystrophy, Thrombocytopenia |
ORPHA:96181 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Limb joint contracture, Postural tremor, Ataxia, Splenomegaly, Flexion contracture, Truncal obesi... |
OMIM:301072 |
| Monosomy 9Q22.3 |
|
Short nose, Thickened ears, Low-set ears, Large for gestational age |
ORPHA:77301 |
| Coffin-Siris Syndrome |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Recurrent upper respiratory tract infe... |
ORPHA:1465 |
| Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Thrombocytopenia, Splenomegaly, Chronic diarrhea, Leukopenia... |
OMIM:300972 |
| Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... |
OMIM:614074 |
| Deeah Syndrome |
|
Polyhydramnios, Low-set ears, Decreased body weight, Prominent nasal tip, Short nose, Hearing imp... |
OMIM:619004 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... |
ORPHA:542323 |
| Sepsis In Premature Infants |
|
Small for gestational age, Thrombocytopenia, Leukocytosis, Diarrhea, Splenomegaly, Enterocolitis,... |
ORPHA:90051 |
| Cerebrocostomandibular Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal |
ORPHA:1393 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:163649 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Short nose, Failure to thrive, Polyhydramnios |
ORPHA:329178 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Corneal scarring, Atypical scarring of sk... |
OMIM:263700 |
| Trisomy 18 |
|
Low-set, posteriorly rotated ears, Choanal atresia, Cachexia, Pointed helix, Short nose, Oligohyd... |
ORPHA:3380 |
| Coffin-Lowry Syndrome |
|
Wide nose, Anteverted nares, Sensorineural hearing impairment, Thick nasal septum, Protruding ear... |
OMIM:303600 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Anteverted nares, Sensorineural hear... |
ORPHA:444077 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Aplastic anemia, Pancytopenia, Osteoporosis, Thrombocytopenia |
OMIM:224230 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Optic atrophy |
OMIM:617281 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Mixed hearing impairment, Torticollis, Depressed nasal bridge, Anteverted nares, Posteriorly rota... |
ORPHA:536467 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Splenomegaly, Diarrhea, Neutropenia, Stomatitis, Failure to thrive, Thrombocyto... |
OMIM:308230 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
| Immunodeficiency 40 |
|
Chronic diarrhea, T lymphocytopenia, Intermittent diarrhea, Focal active colitis, Thrombocytopenia |
OMIM:616433 |
| Jacobsen Syndrome |
|
Depressed nasal bridge, Anteverted nares, Low-set ears, Short nose, Failure to thrive |
OMIM:147791 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Tremor, Pigmentary retinopathy, Neutropenia, Failure to thrive, Thrombocyto... |
OMIM:277400 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly |
OMIM:618886 |
| Osteogenesis Imperfecta |
|
Osteopenia, Osteoarthritis, Flexion contracture, Loss of ambulation, Decreased skull ossification... |
ORPHA:666 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Abnormal heart morphology, Anemia, Ne... |
OMIM:227650 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Abnormal odontoid tissue morpho... |
ORPHA:79255 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Depressed nasal bridge, Underfolded helix, Small for gestational age, Overfolded helix, Prominent... |
OMIM:268400 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
| Witteveen-Kolk Syndrome |
|
Glue ear, Uplifted earlobe, Polyhydramnios, Protruding ear, Thickened helices, Depressed nasal br... |
OMIM:613406 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Ataxia, Broad-based gait, Dystonia |
ORPHA:438216 |
| Robinow Syndrome |
|
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Bro... |
ORPHA:97360 |
| Hyperekplexia 1 |
|
Umbilical hernia, Exaggerated startle response, Inguinal hernia |
OMIM:149400 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:64743 |
| Wiedemann-Steiner Syndrome |
|
Short nose, Failure to thrive, Wide nasal bridge, Low-set ears |
ORPHA:319182 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Mixed hearing impairment, Anteverted nares, Broad nasal tip, Sensorineural hearing impairment, Sh... |
OMIM:272460 |
| Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... |
OMIM:164745 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Failure to thrive, Abnormal pulmonary valve morphology, Leukopenia, ... |
ORPHA:974 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Gastritis, Osteomalacia, Decreased proportion of naive T cells, Anorexia, Splenome... |
OMIM:619381 |
| Rift Valley Fever |
|
Retinitis, Anorexia, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Macular edema, Melena, Re... |
ORPHA:319251 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Joint hemorrhage, Thrombocytopenia |
OMIM:277480 |
| Choreoacanthocytosis |
|
Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Self-mutilation of t... |
ORPHA:2388 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
| Osteoglophonic Dysplasia |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Nasal congestion, Low-set ears, Short ... |
OMIM:166250 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Camptodactyly of finger, Cardiomegaly, Mi... |
OMIM:256040 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B ly... |
ORPHA:508542 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Protruding ear, Otitis media, Decreased body weight, Intention tremor, Anteverted nares, Overweig... |
OMIM:619475 |
| Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Avascular necrosis of the capital femoral epiphysis, Splenomegaly... |
OMIM:222470 |
| Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Hypercholesterolemia, Osteomalacia, Camptodactyly of finger, Aggressive behavi... |
OMIM:309000 |
| Fibrochondrogenesis 2 |
|
Short nose, Anteverted nares |
OMIM:614524 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis,... |
OMIM:610217 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... |
OMIM:619573 |
| Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Ankyloblepharon, Popliteal pter... |
OMIM:119500 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... |
OMIM:208500 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Micrognathia, Upper limb undergrowth, Slender long bone |
ORPHA:369837 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Abnormality of the ear, Increased size of nasopharyngeal adenoids, Low-se... |
ORPHA:457395 |
| Stickler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Cachexia, Sensorineural hearing impairment, Osteoarthri... |
ORPHA:828 |
| Lig4 Syndrome |
|
Pancytopenia, Small for gestational age, Acute lymphoblastic leukemia, Failure to thrive, Thrombo... |
OMIM:606593 |
| Blue Rubber Bleb Nevus |
|
Pathologic fracture, Intestinal bleeding, Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Depressed nasal bridge, Anteverted nares, Polyhydramnios, Long nose, Bulbous nose, Increased circ... |
ORPHA:508533 |
| Acrocallosal Syndrome |
|
Posteriorly rotated ears, Abnormal pinna morphology, Wide nasal bridge, Low-set ears, Short nose,... |
OMIM:200990 |
| Holoprosencephaly 7 |
|
Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal tip, Hypoplast... |
OMIM:610828 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of neutrophils, Thrombocytopenia, Diarrhea, Weight loss,... |
ORPHA:36426 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Opisthotonus, Choanal ... |
OMIM:269150 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Splenomegaly, Impaired ADP-induced platelet aggregation, Ocular a... |
OMIM:608233 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... |
OMIM:617718 |
| Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short nose, Protruding ear |
OMIM:230740 |
| Lathosterolosis |
|
Conductive hearing impairment, Short nose, Anteverted nares, Wide nasal bridge |
OMIM:607330 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Autosomal Dominant Omodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:93328 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia |
OMIM:246400 |
| Acute Radiation Syndrome |
|
Diarrhea, Vomiting, Granulocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Rickets, Osteomalacia |
OMIM:227810 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Hypercalcemia |
OMIM:131100 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
| Autosomal Recessive Robinow Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, C... |
ORPHA:1507 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... |
OMIM:236680 |
| Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Cleft ala nasi, Depressed nasal bridge, Underdeveloped nasal a... |
ORPHA:2052 |
| Ivic Syndrome |
|
Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R... |
OMIM:147750 |
| Acrofacial Dysostosis 1, Nager Type |
|
Posteriorly rotated ears, Prominent nasal bridge, Atresia of the external auditory canal, Low-set... |
OMIM:154400 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Large for gestational age |
OMIM:616026 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Vom... |
ORPHA:244242 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Gastroesophageal reflux |
OMIM:608800 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
| Khan-Khan-Katsanis Syndrome |
|
Short nose, Failure to thrive, Sensorineural hearing impairment |
OMIM:618460 |
| Gaucher Disease, Type Ii |
|
Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Failure to thrive, Thrombocytopenia |
OMIM:230900 |
| Ogden Syndrome |
|
Torticollis, Pulmonary edema, Depressed nasal bridge, Eczema, Underdeveloped nasal alae, Bifid na... |
OMIM:300855 |
| Geleophysic Dysplasia 1 |
|
Thickened helices, Short nose, Anteverted nares |
OMIM:231050 |
| Avian Influenza |
|
Diarrhea, Leukopenia, Vomiting, Lymphopenia, Thrombocytopenia |
ORPHA:454836 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Thrombocytopenia, Dysphagia, Weight loss, Neutropenia, Abnormal myoc... |
ORPHA:537 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Depressed nasal bridge, Choanal atresia, Abnormal pinna morphology, Bulbous nose, Abnormal earlob... |
ORPHA:95699 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocytopenia |
OMIM:611126 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Abnormal heart morphology, Anemia, At... |
OMIM:227646 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Splenomegaly, Hypocalcification of dental enamel, Thrombocytopenia, Amelogenesi... |
ORPHA:169090 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, Gastroesophageal reflux, Failure to... |
OMIM:615574 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Thrombocytopenia, Absence of subcut... |
OMIM:620005 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Short nose |
ORPHA:496790 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
| Van Esch-O'Driscoll Syndrome |
|
Short nose, Microtia, Depressed nasal bridge, Protruding ear |
OMIM:301030 |
| Recon Progeroid Syndrome |
|
Joint laxity, Thrombocytopenia, Anemia |
OMIM:620370 |
| Vexas Syndrome |
|
Arthritis, Macrocytic anemia, Thrombocytopenia |
OMIM:301054 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short nose, Failure to thrive, Wide nasal bridge, Polyhydramnios |
OMIM:618005 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Anosmia |
ORPHA:1295 |
| Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Left ventricular hypertrop... |
ORPHA:31150 |
| Arterial Tortuosity Syndrome |
|
Myocarditis, Short nose, Macrotia, Esophagitis |
ORPHA:3342 |
| Cornelia De Lange Syndrome |
|
Low-set, posteriorly rotated ears, Failure to thrive, Depressed nasal bridge, Anteverted nares, C... |
ORPHA:199 |
| Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Retinal pigment epithelial mottling, Spl... |
OMIM:219800 |
| Fanconi Anemia, Complementation Group B |
|
Optic disc hypoplasia, Aplastic anemia, Ventricular septal defect, Thrombocytopenia |
OMIM:300514 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Small for gestational age, Narrow nasal ridge, Recurrent pancreatitis, Low-set ears, Pleural effu... |
OMIM:606721 |
| Teebi Hypertelorism Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose |
OMIM:145420 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Short nose, Low hanging columella |
OMIM:615803 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
| Dubowitz Syndrome |
|
Abnormality of neutrophils, Craniosynostosis, Thrombocytopenia, Chronic diarrhea, Acute lymphobla... |
ORPHA:235 |
| Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Hiatus hernia, Optic... |
OMIM:122470 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
| Ruvalcaba Syndrome |
|
Short nose, Convex nasal ridge |
ORPHA:3121 |
| Autosomal Dominant Robinow Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge,... |
ORPHA:3107 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Long nose, Short nose, Failure to thrive, Narrow nose |
OMIM:617602 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Thrombocytopenia, Diarrhea, Peritonitis, Leukocytosis, Schistocytosis, Bloody di... |
ORPHA:90038 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
| Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
| Degcags Syndrome |
|
Failure to thrive, Anteverted nares, Prominent nasal bridge, Hearing impairment, Prominent nose, ... |
OMIM:619488 |
| Helsmoortel-Van Der Aa Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Cupped ear, Wide nasal bridge, Obesi... |
OMIM:615873 |
| Fanconi Anemia, Complementation Group F |
|
Anemia, Leukopenia, Atrial septal defect, Failure to thrive, Thrombocytopenia |
OMIM:603467 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Hyperactivity, Retinal pigment epithelial mottling, Diarrhea, T lymp... |
OMIM:251260 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Small for gestational age, Prominent nasal bridge, Failure to thrive in infancy, Broad nasal tip,... |
ORPHA:268261 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Small for gestational age, Diarrhea, Hand tremor, Weight loss, Agitation |
ORPHA:424 |
| Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
| Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Thrombocytopenia |
OMIM:617397 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Lipoatrophy, Cardiomegaly, Tremor, Neonatal alloimmune thrombocytope... |
ORPHA:51 |
| Hardikar Syndrome |
|
Ventricular septal defect, Hematemesis, Hypersplenism, Splenomegaly, Partial anomalous pulmonary ... |
OMIM:301068 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Broad-based gait, Mitral valve calcification, Pancytopenia, Cachexia, Aortic valve c... |
ORPHA:2072 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Failure to thrive, Inguinal hernia, Ventricular septal defect, Microcytic anemia, Thrombocytopeni... |
OMIM:619525 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
| Branchiooculofacial Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Sensorineural hearing impairme... |
OMIM:113620 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
| Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal stenosis, Choanal atresia, Short nose |
OMIM:101600 |
| Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal helix morphology, Low-set ears, Short nose |
ORPHA:1519 |
| Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Eczema, Aplasia/Hypoplasia of the earlobes, ... |
ORPHA:2308 |
| Ivic Syndrome |
|
Joint stiffness, Leukocytosis, Radioulnar synostosis, Thrombocytopenia, Synostosis of carpal bones |
ORPHA:2307 |
| Dent Disease |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
| Schneckenbecken Dysplasia |
|
Short nose, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:269250 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia |
ORPHA:99880 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Lymphedema, Low-set ... |
ORPHA:536471 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Microtia, Atresia of the external auditory canal, Low-set ears |
OMIM:236670 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
| Bartsocas-Papas Syndrome |
|
Short nose, Underdeveloped nasal alae |
ORPHA:1234 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Wide nose, Sensorineural hearing impairment, Recurrent upper respiratory tract infe... |
ORPHA:217085 |
| C Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Fail... |
ORPHA:1308 |
| 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 |
| Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Splen... |
OMIM:243800 |
| Parathyroid Carcinoma |
|
Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia |
ORPHA:143 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Wide nose, Sensorineural hearing impairment, Recurrent upper respiratory tract infe... |
ORPHA:217093 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Anteverted nares, Small for gestational age, Broad nasal tip, ... |
ORPHA:363611 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Fontaine Progeroid Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Small for gestational age, Low-set ears, Conduc... |
OMIM:612289 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Small earlobe, Anteverted nares, Posteriorly rotated ears, Broad na... |
OMIM:619522 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Diarrhea, Hand tremor, Weight loss, Agitation |
ORPHA:99819 |
| Microform Holoprosencephaly |
|
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short nose |
ORPHA:280200 |
| Ring Chromosome 7 Syndrome |
|
Small earlobe, Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Wide nasal brid... |
ORPHA:1449 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Posteriorly rotated ears, Recurrent skin infections, Protruding ear, Short columella, Low-set ear... |
OMIM:601776 |
| Okamoto Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Low-set e... |
ORPHA:2729 |
| Mietens Syndrome |
|
Wide nose, Wide nasal bridge, Short nose |
ORPHA:2557 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia |
ORPHA:49566 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Low-set ea... |
OMIM:268310 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Zttk Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Protruding ear, Low-set ears, Short nose, Failure to t... |
OMIM:617140 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Chronic diarrhea, Acute leukemia, Attent... |
ORPHA:647 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Reduced bone mineral density, Anemia, Leukopenia, Wei... |
ORPHA:84 |
| Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Anteverted nares, Broad nasal tip, Prominent nose, Oligohydramnios, Obesity,... |
ORPHA:177907 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Protruding ear, Low-set ears, Short nose, Abnormality of the outer ear |
OMIM:618820 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia |
OMIM:613987 |
| Malan Syndrome |
|
Short nose |
OMIM:614753 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Splenomegaly, Failure to thrive, Vomiting, Thrombocytopenia |
OMIM:251880 |
| Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
| Dyskeratosis Congenita |
|
Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Osteoporosis, An... |
ORPHA:1775 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Increased mean platelet volume, Flexion contracture, Optic atrophy, Abnormal hea... |
ORPHA:487796 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
| Multiple Endocrine Neoplasia Type 4 |
|
Fasting hyperinsulinemia, Increased glucagon level, Hypercalcemia, Hyperinsulinemic hypoglycemia |
ORPHA:276152 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Choanal atresia, Narrow nose, Posteriorly rotated ears, Overfolded helix, Short... |
OMIM:301044 |
| Simpson-Golabi-Behmel Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Polyhydramnios, Increased circulating IgE le... |
ORPHA:373 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Pericarditis, Lymphopenia, Anorexia, Aggressive behavior, Diarrhea, Neutrophilia... |
ORPHA:99826 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Ataxia, Thrombocytopenia, Optic atrophy, Osteoporosis, Leuk... |
OMIM:305000 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:1129 |
| Ppoma |
|
Hypercalcemia, Anorexia |
ORPHA:97278 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Depressed nasal bridge, Anteverted nares, Polyhydramnios, Broad nasal tip, Eczema, Wide nasal bri... |
OMIM:617157 |
| Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... |
ORPHA:84064 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Thrombocytopenia, Diarrhea, Leukocytosis, Melena, Vomiting, Agitation, Decreased bod... |
ORPHA:340 |
| Grfoma |
|
Palmoplantar hyperhidrosis, Hypercalcemia, Anorexia |
ORPHA:97261 |
| Aspartylglucosaminuria |
|
Wide nasal bridge, Arthritis, Microtia, Chronic otitis media, Short nose |
ORPHA:93 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Stiff neck, Neutrophilia, Anorexia, Pericardial effusion, Myocarditis, Hematemesis,... |
ORPHA:99827 |
| Kikuchi-Fujimoto Disease |
|
Ataxia, Anorexia, Myocarditis, Thrombocytopenia, Splenomegaly, Weight loss, Leukopenia, Lymphocyt... |
ORPHA:50918 |
| Doors Syndrome |
|
Anteverted nares, Polyhydramnios, Broad nasal tip, Bulbous nose, Wide nasal bridge, Atresia of th... |
ORPHA:79500 |
| Opsismodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:2746 |
| Thrombocytopenia 1 |
|
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... |
OMIM:313900 |
| Sarcoidosis |
|
Hemolytic anemia, Eosinophilia, Hypercalcemia, Increased T cell count, Anemia, Leukopenia, Thromb... |
ORPHA:797 |
| Holocarboxylase Synthetase Deficiency |
|
Vomiting, Thrombocytopenia |
OMIM:253270 |
| Zollinger-Ellison Syndrome |
|
Increased glucagon level, Hypercalcemia |
ORPHA:913 |
| Williams Syndrome |
|
Hallux valgus, Pes planus, Overfriendliness, Hypercalcemia, Elevated circulating creatine kinase ... |
ORPHA:904 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short nose, Narrow nasal ridge |
OMIM:608612 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Melena |
ORPHA:853 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis |
OMIM:277450 |
| Femoral-Facial Syndrome |
|
Short nose, Abnormal pinna morphology, Low-set ears, Underdeveloped nasal alae |
OMIM:134780 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Renal And Mullerian Duct Hypoplasia |
|
Short nose |
OMIM:266810 |
| Pallister-Hall Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Large for gestational age, ... |
ORPHA:672 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Low-set ea... |
OMIM:180700 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Failure to thrive in infancy, Wide nasal bridge, Protruding ear, Low-set ... |
ORPHA:500150 |
| Carey-Fineman-Ziter Syndrome |
|
Short nose, Anteverted nares |
ORPHA:1358 |
| Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Shor... |
ORPHA:709 |
| Penile Agenesis |
|
Posteriorly rotated ears, Short nose, Depressed nasal bridge, Oligohydramnios |
ORPHA:49 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Choreoathetosis, Prominent nasal tip, Short nose, Dystonia |
ORPHA:522077 |
| Sotos Syndrome |
|
Pes planus, Hip contracture, Hypercalcemia, Ankle flexion contracture, Aggressive behavior, Bilat... |
ORPHA:821 |
| Roberts Syndrome |
|
Progressive flexion contractures, Craniosynostosis, Knee flexion contracture, Radioulnar synostos... |
ORPHA:3103 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Depressed nasal bridge, Anteverted nares, Bulbous nose, Short nose, Decreased circulating IgG level |
OMIM:271510 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Arthritis, Leukopenia, Retinopathy, Thrombocytopenia |
ORPHA:536 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... |
OMIM:304120 |
| Kinsship Syndrome |
|
Pes planus, Micrognathia, Coxa valga, Hip dislocation, Bruxism, Fibular hypoplasia, Polydactyly, ... |
OMIM:619297 |
| Williams-Beuren Syndrome |
|
Hallux valgus, Diabetes mellitus, Down-sloping shoulders, Hypercalcemia, Glucose intolerance, Rad... |
OMIM:194050 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Thrombocytopenia, Xerostomia, Arthritis, Leukopenia, Normochromic anemia, Opti... |
ORPHA:289390 |
| Beckwith-Wiedemann Syndrome |
|
Otosclerosis, Polyhydramnios, Large for gestational age, Abnormal earlobe morphology, Obesity, An... |
ORPHA:116 |
| Eisenmenger Syndrome |
|
Ventricular septal defect, Hypochromic microcytic anemia, Aortopulmonary window, Abnormal heart m... |
ORPHA:97214 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Short nose, Opisthotonus |
OMIM:252160 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Depressed nasal bridge, Eczema, Underdeveloped nasal alae, Rhinitis, Short nose |
OMIM:305100 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose, Opisthotonus |
OMIM:252150 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short nose, Convex nasal ridge |
ORPHA:90154 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets |
ORPHA:2636 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Anorexia |
ORPHA:652 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Ataxia, Diarrhea, Vomiting, Agitation, Nausea, Thrombocytopenia |
ORPHA:90062 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Dysphagia |
OMIM:618367 |
| Caroli Syndrome |
|
Hypersplenism, Hematemesis, Leukocytosis, Melena, Leukopenia, Thrombocytopenia |
ORPHA:480520 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Depressed nasal bridge, Anteverted nares, Polyhydramnios, Wide nasal bridge, Anterior creases of ... |
OMIM:312870 |
| Craniofacial Microsomia 1 |
|
Sensorineural hearing impairment, Anotia, Microtia, Atresia of the external auditory canal, Condu... |
OMIM:164210 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Weight loss, Abnormal optic nerve morphology, Optic nerve compression, Thrombocytopenia |
ORPHA:79078 |
| Sponastrime Dysplasia |
|
Wide nose, Aplasia of the nasal bone, Anteverted nares, Depressed nasal bridge, Small for gestati... |
ORPHA:93357 |
| Acromesomelic Dysplasia 1 |
|
Short nose |
OMIM:602875 |
| Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
| Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion, Small for gestational age |
ORPHA:567983 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Fa... |
OMIM:163950 |
| Frontofacionasal Dysplasia |
|
Bifid nose, Short nose, Midline defect of the nose, Underdeveloped nasal alae |
OMIM:229400 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Polydipsia, Thrombo... |
ORPHA:731 |
| Yellow Fever |
|
Neutrophilia, Hematemesis, Diarrhea, Leukocytosis, Vomiting, Nausea, Thrombocytopenia |
ORPHA:99829 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Depressed nasal bridge, Recurrent pneumonia, Depressed nasal ridge, Concave nasal ridge, Short no... |
OMIM:271665 |
| Geleophysic Dysplasia 2 |
|
Short nose |
OMIM:614185 |
| Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, ... |
OMIM:601803 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short nose, Convex nasal ridge, Abdominal obesity |
OMIM:619321 |
