Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor, Abnormal bone structure |
ORPHA:46532 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Proportionate short stature, Small placenta, Abn... |
ORPHA:439167 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Short stature, Postnatal growth retardation, Osteoporosis, Congenital bilateral ptosis, Severe po... |
ORPHA:73272 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Pallor, Short stature |
ORPHA:2786 |
Dermatitis, Atopic |
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Dry skin, Conjunctivitis, Pallor, Facial erythema |
OMIM:603165 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
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Growth delay, Pallor, Ptosis |
OMIM:613561 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Myopathic Ehlers-Danlos Syndrome |
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Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ... |
ORPHA:536516 |
Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Premature delivery because of cervical insufficiency or ... |
ORPHA:1662 |
Congenital Heart Block |
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Premature birth, Hydrops fetalis, Pallor, Vaginal birth after Caesarian, Intrauterine growth reta... |
ORPHA:60041 |
Silver-Russell Syndrome Due To A Point Mutation |
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Postnatal growth retardation, Intrauterine growth retardation, Small placenta, Oligohydramnios |
ORPHA:397590 |
Fetal Akinesia Deformation Sequence 1 |
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Hip contracture, Decreased fetal movement, Telecanthus, Premature birth, Elbow contracture, Campt... |
OMIM:208150 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
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Joint laxity, Epicanthus, Redundant neck skin, Polyhydramnios, Postnatal growth retardation, Larg... |
ORPHA:254528 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Cyclic Vomiting Syndrome |
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Growth delay, Pallor |
OMIM:500007 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Rickets, Pallor, Short stature |
OMIM:611590 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Growth delay, Short stature, Pallor |
OMIM:615631 |
Hb Bart'S Hydrops Fetalis |
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Pallor, Hydrops fetalis, Polyhydramnios, Oligohydramnios |
ORPHA:163596 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
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Joint laxity, Growth delay, Pallor, Delayed puberty, Distichiasis |
OMIM:600462 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Short stature, Pallor |
ORPHA:49827 |
Beta-Thalassemia |
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Pallor, Skin ulcer, Reduced bone mineral density |
ORPHA:848 |
Myelofibrosis |
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Myelofibrosis, Pallor, Purpura |
OMIM:254450 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Pyruvate Kinase Deficiency Of Red Cells |
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Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis |
OMIM:266200 |
Fanconi Anemia, Complementation Group I |
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Fused cervical vertebrae, Short stature, Pallor, Intrauterine growth retardation |
OMIM:609053 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Pallor |
ORPHA:276556 |
Dravet Syndrome |
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Limited knee extension, Pallor |
ORPHA:33069 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Restrictive Dermopathy 1 |
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Spontaneous chorioamniotic separation, Polyhydramnios, Flexion contracture, Premature rupture of ... |
OMIM:275210 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
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Postnatal growth retardation, Large placenta, Umbilical hernia, Polyhydramnios |
ORPHA:254534 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
Beta-Thalassemia Intermedia |
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Osteopenia, Osteoporosis, Skin ulcer, Increased susceptibility to fractures, Reduced bone mineral... |
ORPHA:231222 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
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Pallor, Ptosis |
ORPHA:13 |
Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
Fanconi Anemia, Complementation Group C |
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Epicanthus, Anemic pallor, Short stature, Flexion contracture, Prolonged G2 phase of cell cycle, ... |
OMIM:227645 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Growth delay, Pallor |
OMIM:615234 |
Neu-Laxova Syndrome 1 |
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Decreased fetal movement, Ablepharon, Spina bifida, Fetal akinesia sequence, Polyhydramnios, Abse... |
OMIM:256520 |
Greenberg Dysplasia |
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Polyhydramnios, Multiple prenatal fractures, Patchy variation in bone mineral density, Hydrops fe... |
OMIM:215140 |
Primary Myelofibrosis |
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Ecchymosis, Pallor, Petechiae, Purpura |
ORPHA:824 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Dominant Beta-Thalassemia |
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Osteoporosis, Skin ulcer, Upslanted palpebral fissure, Growth delay, Pallor, Delayed puberty |
ORPHA:231226 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Rheumatic Fever |
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Arthritis, Erythema, Pallor |
ORPHA:3099 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
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Hypophosphatemic rickets, Pallor |
ORPHA:263455 |
Prolactinoma |
|
Osteopenia, Osteoporosis, Pallor, Delayed puberty, Ptosis |
ORPHA:2965 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Beta-Thalassemia Major |
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Osteoporosis, Skin ulcer, Upslanted palpebral fissure, Growth delay, Pallor, Delayed puberty |
ORPHA:231214 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Hereditary Spherocytosis |
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Growth delay, Skin ulcer, Pallor, Gout |
ORPHA:822 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Myopathy, Mitochondrial, And Ataxia |
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Growth delay, Short stature, Pallor |
OMIM:617675 |
Kagami-Ogata Syndrome |
|
Premature birth, Polyhydramnios, Postnatal growth retardation, Large placenta, Limitation of join... |
ORPHA:254519 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Conjunctival icterus, Pallor |
OMIM:194380 |
Sepsis In Premature Infants |
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Premature birth, Pallor, Caesarian section, Petechiae, Purpura |
ORPHA:90051 |
American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Fumarase Deficiency |
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Conjunctival icterus, Bilateral fetal pyelectasis, Pallor, Polyhydramnios |
OMIM:606812 |
Diamond-Blackfan Anemia 1 |
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Epicanthus, Premature birth, Short stature, Pallor, Intrauterine growth retardation, Spina bifida... |
OMIM:105650 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle, Anemic pallor, Short stature |
OMIM:600901 |
Trichohepatoenteric Syndrome 1 |
|
Short stature, Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord, Intra... |
OMIM:222470 |
Degcags Syndrome |
|
Osteopenia, Abnormal eyebrow morphology, Premature birth, Craniosynostosis, Echogenic fetal bowel... |
OMIM:619488 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Ptosis |
ORPHA:91349 |
Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle, Anemic pallor, Short stature |
OMIM:227650 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Osteoporosis, Pallor, Increased susceptibility to fractures |
ORPHA:98849 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Pituitary Apoplexy |
|
Pallor, Ptosis |
ORPHA:95613 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Epicanthus, Redundant neck skin, Premature birth, Interphalangeal joint contracture of finger, Po... |
ORPHA:96334 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Fanconi Anemia, Complementation Group D2 |
|
Blepharophimosis, Prolonged G2 phase of cell cycle, Anemic pallor, Short stature |
OMIM:227646 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Growth delay, Osteopetrosis,... |
ORPHA:667 |
Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Retinal capillary hemangioma, Pallor |
ORPHA:29072 |
Waldenström Macroglobulinemia |
|
Pallor, Purpura |
ORPHA:33226 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Osteoporosis, Pallor, Delayed puberty, Ptosis |
ORPHA:91347 |
Mosaic Trisomy 16 |
|
Large placenta, Single umbilical artery, Premature birth, Intrauterine growth retardation |
ORPHA:1708 |
Esophageal Atresia |
|
Polyhydramnios, Growth delay, Pallor, Absence of stomach bubble on fetal sonography, Laryngotrach... |
ORPHA:1199 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Ptosis, Camptodactyly of finger, Breech presentation, Large placenta, An... |
OMIM:249000 |
Diamond-Blackfan Anemia |
|
Epicanthus, Short stature, Nonimmune hydrops fetalis, Growth delay, Pallor, Ptosis |
ORPHA:124 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor |
ORPHA:20 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Alternating Hemiplegia Of Childhood |
|
Pallor, Thin eyebrow |
ORPHA:2131 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Incontinentia Pigmenti |
|
Erythema, Short stature, Pallor |
OMIM:308300 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor |
ORPHA:329971 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Pearson Marrow-Pancreas Syndrome |
|
Pallor, Erythema, Hydrops fetalis |
OMIM:557000 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Arthritis, Pallor |
ORPHA:3260 |
Histiocytoid Cardiomyopathy |
|
Pallor |
ORPHA:137675 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Pallor |
ORPHA:653 |
Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Pallor |
ORPHA:544482 |
Von Hippel-Lindau Disease |
|
Retinal capillary hemangioma, Pallor |
ORPHA:892 |
Beckwith-Wiedemann Syndrome |
|
Premature birth, Redundant skin, Polyhydramnios, Large placenta, Subchorionic septal cyst, Umbili... |
ORPHA:116 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Low 1-minute APGAR score, Low 5-minute APGAR score, Pallor |
ORPHA:99125 |