Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Small for gestational age, Proportionate short s... |
ORPHA:439167 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Small for gestational age, Postnatal growth retardation, Severe postnatal growth r... |
ORPHA:73272 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small for gestational age, Postnatal growth retardation, Small placenta, Intrauterine growth reta... |
ORPHA:397590 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Decreased fetal movement, Short stature, Small for gestational age, Postnatal growth retardation,... |
ORPHA:231144 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Polyhydramnios, Large for gestational age, Postnatal growth retardatio... |
ORPHA:254534 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Pallor |
ORPHA:79283 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Failure to thrive, Pallor |
OMIM:613561 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Small for gestational age, Premature birth, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Congenital Heart Block |
|
Premature birth, Hydrops fetalis, Vaginal birth after Caesarian, Pallor, Intrauterine growth reta... |
ORPHA:60041 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Redundant neck skin, Polyhydramnios, Postnatal growth retardation, Large placenta, Umbilical hern... |
ORPHA:254528 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Acute Myelomonocytic Leukemia |
|
Pallor, Weight loss |
ORPHA:517 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Restrictive Dermopathy |
|
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... |
ORPHA:1662 |
Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor |
ORPHA:49827 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Pallor |
ORPHA:276608 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
Neu-Laxova Syndrome 1 |
|
Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Stillbirth, Shor... |
OMIM:256520 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Short stature, Pallor |
OMIM:611590 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Short stature, Pallor, Decreased body weight |
OMIM:609053 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Pallor, Large for gestational age |
ORPHA:324575 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Nonimmune hydrops fetalis, Pallor |
OMIM:266200 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Failure to thrive, Pallor, Delayed puberty |
OMIM:600462 |
Mosaic Trisomy 16 |
|
Small for gestational age, Premature birth, Large placenta, Single umbilical artery, Intrauterine... |
ORPHA:1708 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Large for gestational age |
ORPHA:276556 |
Retinitis Pigmentosa 51 |
|
Pallor, Obesity |
OMIM:613464 |
Kagami-Ogata Syndrome |
|
Premature birth, Polyhydramnios, Large for gestational age, Postnatal growth retardation, Large p... |
ORPHA:254519 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor, Large for gestational age |
ORPHA:276575 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Short stature, Polyhydramnios, Large placenta, Abnormalities of placen... |
OMIM:222470 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Large for gestational age |
ORPHA:276580 |
Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Pallor |
ORPHA:536516 |
Leishmaniasis |
|
Pallor, Skin ulcer, Weight loss |
ORPHA:507 |
Hb Bart'S Hydrops Fetalis |
|
Hydrops fetalis, Pallor, Polyhydramnios, Oligohydramnios |
ORPHA:163596 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Non-Functioning Paraganglioma |
|
Pallor, Weight loss |
ORPHA:94080 |
Primary Myelofibrosis |
|
Cachexia, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
Greenberg Dysplasia |
|
Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Inc... |
OMIM:215140 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... |
OMIM:275210 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Weight loss |
ORPHA:3226 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Increased body weight, Pallor, Large for gestational age |
ORPHA:263455 |
Sepsis In Premature Infants |
|
Small for gestational age, Premature birth, Pallor, Decreased body weight, Caesarian section, Pet... |
ORPHA:90051 |
Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Pallor |
ORPHA:99931 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Skin ulcer, Growth delay, Pallor, Delayed puberty |
ORPHA:231226 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Short stature, Premature birth, Polyhydramnios, Large for gestational age, P... |
ORPHA:96334 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Large placenta, Breech presentation, Anencephaly, Single umbilical arter... |
OMIM:249000 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Beta-Thalassemia Major |
|
Failure to thrive in infancy, Skin ulcer, Growth delay, Pallor, Delayed puberty |
ORPHA:231214 |
Diamond-Blackfan Anemia 1 |
|
Short stature, Premature birth, Spina bifida occulta, Pallor, Intrauterine growth retardation, Fa... |
OMIM:105650 |
Hereditary Folate Malabsorption |
|
Failure to thrive, Pallor |
ORPHA:90045 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Hereditary Spherocytosis |
|
Growth delay, Pallor, Skin ulcer |
ORPHA:822 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Pallor, Weight loss |
ORPHA:35858 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Intrauterine growth retardation, Short stature, Anemic pallor |
OMIM:227645 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor, Weight loss |
ORPHA:276621 |
American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
Beta-Ketothiolase Deficiency |
|
Pallor, Weight loss |
ORPHA:134 |
Esophageal Atresia |
|
Small for gestational age, Failure to thrive in infancy, Polyhydramnios, Growth delay, Pallor, Ab... |
ORPHA:1199 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Pallor |
ORPHA:331206 |
Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Failure to thrive, Pallor, Polyhydramnios |
OMIM:606812 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Beckwith-Wiedemann Syndrome |
|
Premature birth, Redundant skin, Polyhydramnios, Large for gestational age, Large placenta, Obesi... |
ORPHA:116 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor, Weight loss |
ORPHA:20 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Erythema, Hydrops fetalis, Pallor, Failure to thrive |
OMIM:557000 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor, Weight loss |
ORPHA:29072 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Short stature, Anemic pallor |
OMIM:600901 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor, Weight loss |
ORPHA:98849 |
Degcags Syndrome |
|
Small for gestational age, Premature birth, Polyhydramnios, Echogenic fetal bowel, Breech present... |
OMIM:619488 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Incontinentia Pigmenti |
|
Erythema, Short stature, Pallor |
OMIM:308300 |
Sheehan Syndrome |
|
Dry skin, Pallor, Obesity |
ORPHA:91355 |
Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Short stature, Anemic pallor |
OMIM:227650 |
Waldenström Macroglobulinemia |
|
Pallor, Purpura |
ORPHA:33226 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Pallor |
ORPHA:2131 |
Diamond-Blackfan Anemia |
|
Short stature, Nonimmune hydrops fetalis, Small for gestational age, Growth delay, Pallor |
ORPHA:124 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor |
ORPHA:329971 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Tsh-Secreting Pituitary Adenoma |
|
Weight loss, Pallor, Delayed puberty |
ORPHA:91347 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Short stature, Anemic pallor |
OMIM:227646 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Pallor |
ORPHA:137675 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Idiopathic Hypereosinophilic Syndrome |
|
Failure to thrive, Pallor |
ORPHA:3260 |
Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Pallor |
ORPHA:667 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pallor |
ORPHA:544482 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
Von Hippel-Lindau Disease |
|
Pallor |
ORPHA:892 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Goodpasture Syndrome |
|
Pallor, Weight loss |
OMIM:233450 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Low 1-minute APGAR score, Low 5-minute APGAR score, Pallor |
ORPHA:99125 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Short stature, Striae distensae, Delayed puberty |
OMIM:300354 |
X-Linked Intellectual Disability, Cabezas Type |
|
Short stature, Obesity, Cachexia |
ORPHA:85293 |