add GSC+, ID-68, val

data/val.json

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+[
+    {
+        "id": "609220",
+        "corpus": "Ha-Vinh et al. (2004) described a child with Bruck syndrome who was the offspring of healthy nonconsanguineous Turkish parents. At birth, pterygia were present at the left elbow and at both knees, and extension of these joints was limited. Contractures were also present at the wrists, and there were bilateral clubfeet. Bilateral inguinal hernias were present. A fracture of the left arm was recognized immediately after birth, and the boy had 2 more fractures in the first 3 months of life. His urine contained high levels of hydroxyproline but low levels of collagen crosslinks degradation products.   Van der Slot et al. (2003) stated that they were unaware of any phenotypic differences between Bruck syndromes 1 and 2. \n",
+        "ann": "138\t146\tpterygia\tHP:0001059\n240\t252\tContractures\tHP:0001371\n301\t319\tbilateral clubfeet\tHP:0001776\n331\t347\tinguinal hernias\tHP:0000023\n437\t461\tboy had 2 more fractures\tHP:0002757\n497\t542\turine contained high levels of hydroxyproline\tHP:0003080"
+    },
+    {
+        "id": "615942",
+        "corpus": "Reiff et al. (2014) reported a consanguineous kindred of Yemeni origin in which 7 individuals had intellectual disability and dysmorphic features. Detailed clinical features were available for 3 patients. Each had delayed psychomotor development, with walking at age 1.5 years, and moderate to severe cognitive impairment; 1 had autistic features. Two had controlled seizures. Brain imaging performed on 1 patient was normal. Dysmorphic features included flat occiput, large eyes, depressed nasal bridge, short, upturned nose, long philtrum, thin lips, and incomplete syndactyly. One patient had a cleft uvula and submucosal cleft palate.   Bernkopf et al. (2014) reported 2 unrelated consanguineous families with autosomal recessive mental retardation. Four Austrian sibs had delayed psychomotor development apparent after the first year of life but maintained a high level of functioning, with independent activities of daily living. The patients also had flat feet and 3 had prominent maxillae, a feature also present in a milder form in the mother. None had seizures. Brain imaging of 1 patient showed possibly increased volume of the subcallosal gray matter and decreased delineation of the basal ganglia. Two Pakistani sisters had similar features; the brain MRI of 1 sister showed decreased delineation of the basal ganglia region. Bernkopf et al. (2014) noted that the neurologic phenotype was milder in their patients compared to that reported by Reiff et al. (2014). \n",
+        "ann": "98\t121\tintellectual disability\tHP:0001249\n214\t245\tdelayed psychomotor development\tHP:0001263\n294\t321\tsevere cognitive impairment\tHP:0100543\n367\t375\tseizures\tHP:0001250\n455\t467\tflat occiput\tHP:0005469\n469\t479\tlarge eyes\tHP:0001090\n481\t503\tdepressed nasal bridge\tHP:0005280\n512\t525\tupturned nose\tHP:0000463\n527\t540\tlong philtrum\tHP:0000343\n542\t551\tthin lips\tHP:0000233\n557\t578\tincomplete syndactyly\tHP:0001159\n598\t609\tcleft uvula\tHP:0000193\n614\t637\tsubmucosal cleft palate\tHP:0000176\n734\t752\tmental retardation\tHP:0001249\n777\t817\tdelayed psychomotor development apparent\tHP:0001263\n958\t967\tflat feet\tHP:0001763\n978\t996\tprominent maxillae\tHP:0430028\n1062\t1070\tseizures\tHP:0001250\n1177\t1209\tdelineation of the basal ganglia\tHP:0002134\n1298\t1337\tdelineation of the basal ganglia region\tHP:0002134"
+    },
+    {
+        "id": "611890",
+        "corpus": "Vuopala et al. (1995) described 15 infants from 11 Finnish families with a phenotype of lethal arthrogryposis and anterior horn motor neuron loss. The clinical presentation was the fetal akinesia deformation sequence (FADS) with multiple contractures and facial anomalies. The phenotype was uniform with low-set ears, hypoplastic jaw, short neck, and contractures. Malpositions in the extremities were moderate, distal, and inwardly spiral. The mean gestational age was 34 weeks, with 8 infants being born at term. Most of the cases were perinatal lethal; 3 infants were stillborn, 5 died within 1 hour, 6 died within a few days, and 1 survived for 20 days. Skeletal muscles were affected in all infants, but the severity of pathologic findings varied. A tibialis muscle sample from one infant showed severe neurogenic atrophy. Muscle spindles were shaped normally with a normal number and differentiation of intrafusal fibers. The size and shape of the spinal cord at different levels were normal but the anterior horn motor neurons were degenerated and diminished in number. The families came from different parts of Finland, and no geographic clustering was observed.   Vuopala et al. (1995) differentiated LAAHD from the lethal congenital contracture syndrome (LCCS1; 253310), also prevalent in Finland. LCCS is always fatal during the fetal period, presenting with severe hydrops and intrauterine growth retardation. The spinal cord is macroscopically thinned because of an early reduction of the anterior horn and a paucity of anterior horn cells. The skeletal muscles are extremely hypoplastic, even difficult to locate. Infants with LAAHD survive longer than those with LCCS, and when present, hydrops and intrauterine growth retardation are mild and the macroscopic findings of the central nervous system and skeletal muscles are normal. Furthermore, birthplaces of ancestors of affected individuals do not show clustering in the northeast part of Finland, as is the case with LCCS. \n",
+        "ann": "95\t109\tarthrogryposis\tHP:0002804\n114\t145\tanterior horn motor neuron loss\tHP:0002398\n181\t216\tfetal akinesia deformation sequence\tHP:0001989\n229\t250\tmultiple contractures\tHP:0002828\n255\t271\tfacial anomalies\tHP:0000271\n304\t316\tlow-set ears\tHP:0000369\n318\t333\thypoplastic jaw\tHP:0000347\n335\t345\tshort neck\tHP:0000470\n351\t363\tcontractures\tHP:0001371\n1006\t1050\tanterior horn motor neurons were degenerated\tHP:0002398\n1232\t1254\tcongenital contracture\tHP:0002803\n1370\t1384\tsevere hydrops\tHP:0005099\n1389\t1420\tintrauterine growth retardation\tHP:0001511\n1522\t1552\tpaucity of anterior horn cells\tHP:0006802\n1558\t1600\tskeletal muscles are extremely hypoplastic\tHP:0009004\n1702\t1709\thydrops\tHP:0000969\n1714\t1754\tintrauterine growth retardation are mild\tHP:0008883"
+    },
+    {
+        "id": "102350",
+        "corpus": "Beillard et al. (2005) described 7 individuals with bi-acromial dimples without associated malformation. In 5 of the 7, the diagnosis was fortuitous, suggesting that these dimples represent a common and likely underdiagnosed condition. Although the dimples are thought to become less conspicuous or even disappear with age, one of their patients was a 66-year-old man who had dimples since early infancy. \n",
+        "ann": "52\t71\tbi-acromial dimples\tHP:0010782"
+    },
+    {
+        "id": "261650",
+        "corpus": "In 2 unrelated children, Hommes et al. (1976) observed hypoglycemia and liver impairment, with deficiency of PEPCK (614095) in liver tissue taken immediately after death. Massive fatty deposition in liver and kidneys was found at autopsy. Fiser et al. (1974) also observed hypoglycemia caused by deficiency of PEPCK. Other enzymatic causes of hypoglycemia include deficiency of glucose-6-phosphatase (232200), fructose-1,6-diphosphatase (229700), and pyruvate carboxylase (608786).   Robinson et al. (1980) studied skin fibroblast cultures from 40 pediatric cases of lactic acidosis. They found one case in which mitochondrial activity of phosphoenolpyruvate carboxykinase was 6% of normal.   See 261680 for a discussion of cytosolic PCK deficiency. \n",
+        "ann": "55\t67\tobserved hypoglycemia\tHP:0001943\n171\t204\tMassive fatty deposition in liver\tHP:0001397\n273\t285\thypoglycemia\tHP:0001943\n343\t355\thypoglycemia\tHP:0001943\n567\t582\tlactic acidosis\tHP:0003128"
+    },
+    {
+        "id": "607417",
+        "corpus": "Higgins et al. (2000) used a private genealogic database to reconstruct the relationships among 32 individuals from 5 nuclear families in a single pedigree in which 10 members had nonsyndromic mental retardation. Standard IQ ranged from 50 to 70, consistent with mild mental retardation. IQ scores were lower in males than females. Developmental milestones were mildly delayed. There were no dysmorphic or autistic features. The kindred was consanguineous, and the evidence clearly indicated autosomal recessive inheritance. Several branches traced back to a founder couple who arrived in America in 1849 from a town in the Rhineland-Palatinate region of Germany. \n",
+        "ann": "193\t211\tmental retardation\tHP:0001249\n263\t286\tmild mental retardation\tHP:0001256\n332\t376\tDevelopmental milestones were mildly delayed\tHP:0001263\n492\t523\tautosomal recessive inheritance\tHP:0000007"
+    },
+    {
+        "id": "612923",
+        "corpus": "Fremeaux-Bacchi et al. (2004) reported 3 unrelated patients with aHUS. The first patient was a 32-year-old woman who developed aHUS after pregnancy. Renal biopsy showed thrombotic microangiopathy. She had decreased serum factor I, factor B (CFB; 138470), and C3, indicating consumptive depletion of these complement proteins. Her unaffected father also carried the mutation; he had decreased serum factor I. The second patient developed aHUS with severe microangiopathic hemolytic anemia, hypertension, and proteinuria at age 17 months. He had a relapse 6 months later. Two years later, his renal function was normal, but he required antihypertensive treatment. His clinically unaffected mother also carried the mutation. Although serum factor I levels were normal in both the patient and his mother, both showed decreased serum C3 and factor B. The third patient was a 26-year-old woman who had recurrence of HUS following a second renal transplantation and thrombotic microangiopathy. Serum factor I levels were 36% of normal. \n",
+        "ann": "447\t487\tsevere microangiopathic hemolytic anemia\tHP:0001937\n489\t501\thypertension\tHP:0000822\n507\t518\tproteinuria\tHP:0000093\n806\t831\tshowed decreased serum C3\tHP:0005421"
+    },
+    {
+        "id": "144750",
+        "corpus": "Maroteaux et al. (1971) reported a benign and usually asymptomatic form of osteosclerosis associated with torus palatinus. Worth and Wollin (1966) first described the condition.   Gorlin and Glass (1977) proposed the designation for this disorder which is distinguished from van Buchem disease (hyperostosis corticalis generalisata; 239100) by the dominant inheritance pattern and absence of exophthalmos, hypertelorism, increased head circumference, nasal obstruction, cranial nerve involvement, and elevated alkaline phosphatase. A main clinical feature is widened and deepened mandible with increased gonial angle. Radiographically, the disorder shows endosteal sclerosis of the calvaria with loss of the diploe, osteosclerosis and hyperostosis of the mandible with absence of the normal antegonial notches, endosteal sclerosis of the diaphyses of long bones (including metacarpals and metatarsals), and osteosclerosis of the pelvis. The vertebral bodies, ribs, and clavicles are involved to a minor degree. Unlike dominant osteopetrosis (see 166600), osteomyelitis and 'bone-within-bone' x-ray appearance may not occur in this form. Torus palatinus is such a generally common finding--in about 25% of females (Gorlin, 1977)--that it may not be a significant feature. Reports include those of Russell et al. (1968), Dyson (1972), and Owen (1976).   Perez-Vicente et al. (1987) pointed out that the autosomal dominant variety of endosteal hyperostosis may not always be benign. He described a Spanish family in which individuals in 4 generations appear to have been affected. A father and daughter who were studied showed severe involvement. The father showed neurologic damage with sensorineural hearing loss, chronic intracranial hypertension, and mild corticospinal tract abnormalities. There was radiologic evidence of progressive bone disease at follow-up. In addition to mild hydrocephalus, CT scan of the head documented a reduction in size with the posterior fossa and encroachment on the foramen magnum.   Ades et al. (1994) observed this disorder in a mother and her 2 children. Chronic intracranial hypertension and cranial nerve palsies were found in the mother. CT scans and MRI views of the head demonstrated symmetrical sclerosis of the cranial vault, narrow internal auditory meatus and canals, inferior herniation of the cerebellar tonsils into the foramen magnum, and encroachment of occipital bone into the foramen magnum posteriorly. \n",
+        "ann": "75\t89\tosteosclerosis\tHP:0011002\n106\t121\ttorus palatinus\tHP:0100789\n295\t318\thyperostosis\tHP:0100774\n392\t404\texophthalmos\tHP:0000520\n406\t419\thypertelorism\tHP:0000316\n421\t449\tincreased head circumference\tHP:0040194\n451\t468\tnasal obstruction\tHP:0001742\n470\t495\tcranial nerve involvement\tHP:0001291\n501\t530\televated alkaline phosphatase\tHP:0003155\n571\t588\tdeepened mandible\tHP:0000303\n655\t674\tshows endosteal sclerosis\tHP:0011001\n665\t690\tsclerosis of the calvaria\tHP:0000250\n716\t730\tosteosclerosis\tHP:0011001\n735\t763\thyperostosis of the mandible\tHP:0004472\n811\t861\tendosteal sclerosis of the diaphyses of long bones\tHP:0003034\n907\t921\tosteosclerosis\tHP:0011002\n1027\t1040\tosteopetrosis\tHP:0011002\n1055\t1068\tosteomyelitis\tHP:0002754\n1137\t1152\tTorus palatinus\tHP:0100789\n1441\t1453\thyperostosis\tHP:0100774\n1685\t1711\tsensorineural hearing loss\tHP:0000407\n1713\t1746\tchronic intracranial hypertension\tHP:0002516\n1757\t1790\tcorticospinal tract abnormalities\tHP:0002492\n1884\t1897\thydrocephalus\tHP:0000238\n1914\t1949\thead documented a reduction in size\tHP:0000252\n1999\t2013\tforamen magnum\tHP:0002677\n2091\t2124\tchronic intracranial hypertension\tHP:0002516\n2129\t2150\tcranial nerve palsies\tHP:0006824\n2368\t2382\tforamen magnum\tHP:0002677\n2428\t2442\tforamen magnum\tHP:0002677"
+    },
+    {
+        "id": "614455",
+        "corpus": "Lemieux and Neemeh (1967) reported a French family in which several individuals had CMT disease, 1 of whom also had clear renal involvement. The 21-year-old proband developed walking difficulties at age 8 years, requiring orthopedic corrections, and showed hand weakness at age 14. At age 21 years, she had atrophy and weakness of the peroneal and anterior tibial muscles with steppage gait, atrophy of the distal muscles of the forearm, claw hands, and areflexia. At ages 19 and 21 years, she presented with fever associated with proteinuria and was found to have focal glomerulosclerosis and atrophic tubules on renal biopsy. However, renal function was normal. Her mother, a brother, and a sister had CMT, and the mother and 2 sisters had mild proteinuria, but no further renal studies were performed. Lemieux and Neemeh (1967) also reported 2 brothers with childhood-onset CMT, chronic nephritis, and deafness. However, mutations in the INF2 gene were not found in these brothers, suggesting that they may have had a different disorder (Boyer, 2012).   Hanson et al. (1970) reported a patient with distal muscle wasting, nephritis, and deafness, but with no family history of these features.   Boyer et al. (2011) reported 12 index cases of genetically confirmed CMTDIE. The median age of onset of proteinuria was 18 years (range, 10-21 years), with 11 patients developing end-stage renal disease at a median age of 21 years (range, 12-47 years). Renal biopsies showed typical FSGS. The median age at onset of neurologic dysfunction was 13 years (range, 5-28 years), and all had distal muscle atrophy and weakness affecting the lower limbs, although the severity was variable; older individuals had greater impairment. Four patients developed proteinuria before neurologic symptoms, 5 developed neurologic symptoms before proteinuria, and 3 developed both symptoms at the same time. The neurologic symptoms were progressive, and included difficulties walking, frequent falls, steppage gait, hypo- or areflexia, pes cavus, and distal sensory impairment. Seven patients also had significant upper limb involvement, some of whom had paresis of the hand muscles resulting in claw hands. Sural nerve biopsies showed axonal loss and onion bulb formation, and neurophysiologic studies were variable, most consistent with an intermediate form of CMT. Four patients also had mild to moderate sensorineural hearing loss. ",
+        "ann": "175\t195\twalking difficulties\tHP:0002355\n257\t270\thand weakness\tHP:0030237\n319\t343\tweakness of the peroneal\tHP:0011727\n377\t390\tsteppage gait\tHP:0003376\n392\t436\tatrophy of the distal muscles of the forearm\tHP:0003693\n438\t448\tclaw hands\tHP:0001171\n454\t463\tareflexia\tHP:0001284\n509\t514\tfever\tHP:0001945\n531\t542\tproteinuria\tHP:0000093\n565\t589\tfocal glomerulosclerosis\tHP:0000097\n742\t758\tmild proteinuria\tHP:0012595\n890\t899\tnephritis\tHP:0000123\n905\t913\tdeafness\tHP:0000365\n1102\t1123\tdistal muscle wasting\tHP:0003693\n1125\t1134\tnephritis\tHP:0000123\n1140\t1148\tdeafness\tHP:0000365\n1302\t1313\tproteinuria\tHP:0000093\n1377\t1400\tend-stage renal disease\tHP:0003774\n1583\t1604\tdistal muscle atrophy\tHP:0003693\n1609\t1643\tweakness affecting the lower limbs\tHP:0007340\tNeg\n1747\t1758\tproteinuria\tHP:0000093\n1826\t1837\tproteinuria\tHP:0000093\n1891\t1927\tneurologic symptoms were progressive\tHP:0002344\n1942\t1962\tdifficulties walking\tHP:0002355\n1964\t1978\tfrequent falls\tHP:0002359\n1980\t1993\tsteppage gait\tHP:0003376\n2004\t2013\tareflexia\tHP:0001284\n2015\t2024\tpes cavus\tHP:0001761\n2030\t2055\tdistal sensory impairment\tHP:0002936\n2134\t2161\tparesis of the hand muscles\tHP:0030237\n2175\t2185\tclaw hands\tHP:0001171\n2215\t2226\taxonal loss\tHP:0003447\n2231\t2251\tonion bulb formation\tHP:0003383\n2378\t2413\tmoderate sensorineural hearing loss\tHP:0008504"
+    },
+    {
+        "id": "607475",
+        "corpus": "In Vasterbotten County in northern Sweden an usually high frequency of a distinctive form of retinal dystrophy, termed Bothnia dystrophy, occurs. Burstedt et al. (1999, 2001) described the phenotype. Fifty-seven cases of Bothnia dystrophy were diagnosed, indicating a prevalence as high as 1 per 4,500 persons in that particular geographic area. Patients typically showed night blindness from early childhood. In young adults, retinitis punctata albescens (see 136880) was observed, followed by macular degeneration and a decrease in visual acuity that led to legal blindness in early adulthood. Dark adaptometry and electrophysiologic testing showed an initial loss of rod function followed by progressive reduction of the cone responses in older ages.   To characterize the clinical phenotype of Bothnia dystrophy, with an emphasis on electrophysiology, Granse et al. (2001) studied 2 unrelated (or at least distantly related) patients of 10 and 11 years of age who had the arg234-to-trp mutation (R234W; 180090.0004) in the RLBP1 gene. They concluded that patients with the R234W mutation may have a normal fundus appearance early in the disease course. Multifocal electroretinograms could be used for the objective documentation of disturbed macular function. The rod response was absent in the electroretinograms of the 2 patients; however, after prolonged dark adaptation (20 to 24 hours), the rods recovered completely. The central cones did not seem to recover. ",
+        "ann": "93\t110\tretinal dystrophy\tHP:0000556\n372\t387\tnight blindness\tHP:0000662\n427\t436\tretinitis\tHP:0032118\n495\t515\tmacular degeneration\tHP:0000608\n522\t547\tdecrease in visual acuity\tHP:0007663\n566\t575\tblindness\tHP:0000618\n1157\t1186\tMultifocal electroretinograms\tHP:0030468\n1236\t1262\tdisturbed macular function\tHP:0001103"
+    },
+    {
+        "id": "304100",
+        "corpus": "Menkes et al. (1964) described a family with 5 males (in 4 sibships of 2 generations connected through females) with partial agenesis of the corpus callosum. Clinical features included severe intellectual retardation and intractable seizures. Postmortem studies of 1 patient showed a combination of anatomic and chemical abnormalities. These patients lacked the more generalized malformations of the FG syndrome (305450).   Kaplan (1983) reported a 2-year-old boy who had psychomotor retardation, weakness of the arms and Hirschsprung disease (142623) with complete agenesis of the corpus callosum and hypoplasia of the inferior vermis and cerebellum. His 24-year-old maternal uncle had severe psychomotor retardation and agenesis of the corpus callosum by CT scan, but none of the other physical features found in the nephew. Kang et al. (1992) reported dysgenesis of the corpus callosum in 4 males related as first cousins through their mothers, who were sisters. There was associated microcephaly, mental retardation, spasticity, and unusual facial appearance. Hydrocephalus and/or interhemispheric cyst was found also.   Basel-Vanagaite et al. (2006) reported 2 Jewish male sibs with partial agenesis of the corpus callosum and mild mental retardation. Neither sib had hydrocephalus, adducted thumbs, or absent speech associated with X-linked hydrocephalus (307000) or MASA syndrome (303350). The older sib also had Hirschsprung disease and congenital dislocation of the radial heads bilaterally, resulting in limited extension and supination of the elbows. \n",
+        "ann": "117\t156\tpartial agenesis of the corpus callosum\tHP:0001338\n185\t216\tsevere intellectual retardation\tHP:0010864\n233\t241\tseizures\tHP:0001250\n472\t495\tpsychomotor retardation\tHP:0025356\n522\t542\tHirschsprung disease\tHP:0002251\n557\t597\tcomplete agenesis of the corpus callosum\tHP:0001338\n602\t635\thypoplasia of the inferior vermis\tHP:0007068\n602\t650\thypoplasia of the inferior vermis and cerebellum\tHP:0001321\n687\t717\tsevere psychomotor retardation\tHP:0011344\n722\t753\tagenesis of the corpus callosum\tHP:0001274\n855\t888\treported dysgenesis of the corpus callosum\tHP:0006989\n976\t999\tassociated microcephaly\tHP:0000252\n1001\t1019\tmental retardation\tHP:0001249\n1021\t1031\tspasticity\tHP:0001257\n1037\t1062\tunusual facial appearance\tHP:0001999\n1064\t1077\tHydrocephalus\tHP:0000238\n1085\t1106\tinterhemispheric cyst\tHP:0032327\n1188\t1227\tpartial agenesis of the corpus callosum\tHP:0001338\n1232\t1255\tmild mental retardation\tHP:0001256\n1273\t1286\thydrocephalus\tHP:0000238\n1288\t1303\tadducted thumbs\tHP:0001181\n1308\t1321\tabsent speech\tHP:0001344\n1347\t1360\thydrocephalus\tHP:0000238\n1420\t1440\tHirschsprung disease\tHP:0002251\n1445\t1499\tcongenital dislocation of the radial heads bilaterally\tHP:0003083"
+    },
+    {
+        "id": "615919",
+        "corpus": "Baple et al. (2014) reported 4 patients between 11 and 31 years of age from an extended Ohio Amish family with a neurodegenerative syndrome. The main features included delayed development or learning difficulties, prelingual sensorineural hearing loss, progressive gait instability and ataxia, progressive muscle weakness, dysarthria, dysphagia, and cognitive decline with age. All patients had short stature (-3.8 to -5.2 SD), and the 2 oldest patients never underwent a pubertal growth spurt. Other features included cutaneous and conjunctival telangiectasia, photophobia, and photosensitivity, with evidence of predisposition to sun-induced malignancy in 1 patient. Another patient showed premature aging. Brain MRI of 1 patient revealed cerebellar atrophy. The features were reminiscent of syndromes caused by DNA repair defects, such as xeroderma pigmentosum (see, e.g., XPA; 278700), Cockayne syndrome (see, e.g., CSA; 216400), and ataxia-telangiectasia (AT; 208900). None of the patients reported by Baple et al. (2014) had evidence of immunodeficiency. ",
+        "ann": "168\t187\tdelayed development\tHP:0001263\n214\t251\tprelingual sensorineural hearing loss\tHP:0000399\n253\t281\tprogressive gait instability\tHP:0002317\n286\t292\tataxia\tHP:0001251\n294\t321\tprogressive muscle weakness\tHP:0003323\n323\t333\tdysarthria\tHP:0001260\n335\t344\tdysphagia\tHP:0002015\n350\t367\tcognitive decline\tHP:0001268\n395\t408\tshort stature\tHP:0004322\n533\t560\tconjunctival telangiectasia\tHP:0000524\n562\t573\tphotophobia\tHP:0000613\n579\t595\tphotosensitivity\tHP:0000992\n741\t759\tcerebellar atrophy\tHP:0001272\n938\t944\tataxia\tHP:0001251\n945\t959\ttelangiectasia\tHP:0001009\n1043\t1059\timmunodeficiency\tHP:0002721"
+    },
+    {
+        "id": "309300",
+        "corpus": "In a family reported by Riddell (1941), affected males showed large cornea as an isolated defect. Heterozygous women may show slight increase in corneal diameter. Two presumed homozygous females occurred in this family.   Skuta et al. (1983) studied 2 brothers with megalocornea and their 2 affected maternal uncles. The deceased maternal great-grandfather was reported to have had large eyes and cataracts. Examination of the 4 affected individuals revealed corneal diameters ranging from 13 to 15.5 mm, deep anterior chambers, and normal intraocular pressure. Additional features included atrophy of the iris stroma, iridodonesis, astigmatic refractive errors in the vertical meridian, lens subluxation, and cataract formation. Two of the patients exhibited transillumination of the irides, a feature not previously reported in this disorder, and the oldest patient, aged 54 years, displayed posterior 'crocodile shagreen' bilaterally, believed to represent opacities of the central stroma. Endothelial specular microscopy of affected individuals disclosed normal endothelial cell densities and morphologic characteristics and increased total endothelial cell populations, suggesting that the process involved in the development of megalocornea is one of primary overgrowth rather than secondary distention. Eye examination of 3 daughters of 1 of the affected men showed normal results except for amblyopia in 1 of them, and there was no history of women in the family with unusually large eyes or other ocular problems.   Mackey et al. (1991) studied 16 affected males from 5 unrelated families, including a large 5-generation family ('family 1') with linkage to Xq21.3-q22 (Chen et al., 1989), and found that affected males had corneal diameters between 13.0 and 16.5 mm. Arcus juvenilis, mosaic corneal dystrophy, and cataracts were found only in adult affected males. No abnormality was identified in carrier females.   Webb et al. (2012) ascertained 6 families segregating X-linked megalocornea. Affected individuals had corneal diameters ranging from 14 mm to 16 mm, large anterior chamber depths, decreased central corneal thickness, mosaic corneal degeneration ('shagreen'), corneal arcus juvenilis, and, in older patients, cataract. Iris transillumination with pigment dispersion was seen in all patients examined. No patient had glaucoma or significant vision loss, and no neurologic or systemic abnormalities were detected. Carrier females had no clinical signs of megalocornea. \n",
+        "ann": "133\t161\tincrease in corneal diameter\tHP:0000485\n266\t278\tmegalocornea\tHP:0000485\n382\t392\tlarge eyes\tHP:0001090\n397\t406\tcataracts\tHP:0000518\n505\t527\tdeep anterior chambers\tHP:0007765\n591\t610\tatrophy of the iris\tHP:0001089\n619\t631\tiridodonesis\tHP:0100693\n688\t704\tlens subluxation\tHP:0001132\n710\t718\tcataract\tHP:0000518\n1234\t1246\tmegalocornea\tHP:0000485\n1265\t1275\tovergrowth\tHP:0001548\n1399\t1408\tamblyopia\tHP:0000646\n1476\t1496\tunusually large eyes\tHP:0001090\n1793\t1817\tmosaic corneal dystrophy\tHP:0007836\n1823\t1832\tcataracts\tHP:0000518\n1989\t2001\tmegalocornea\tHP:0000485\n2075\t2097\tlarge anterior chamber\tHP:0001090\n2081\t2104\tanterior chamber depths\tHP:0000594\n2106\t2141\tdecreased central corneal thickness\tHP:0100689\n2150\t2170\tcorneal degeneration\tHP:0007705\n2185\t2198\tcorneal arcus juvenilis\tHP:0001084\n2234\t2242\tcataract\tHP:0000518\n2341\t2349\tglaucoma\tHP:0000501\n2365\t2376\tvision loss\tHP:0000572\n2478\t2490\tmegalocornea\tHP:0000485"
+    },
+    {
+        "id": "300266",
+        "corpus": "Steinmuller et al. (1997) studied a 4-generation family with severe complicated X-linked spastic paraplegia. There were 5 living affected males at the time of study. The patients were quadriplegic and had motor aphasia, reduced vision, mild mental retardation, and dysfunction of the bowel and bladder. There was no evidence of choreoathetosis. Head circumference was normal in each case. Disease onset occurred during the first 3 months of life. The first symptoms observed were nystagmus (but this disappeared in later life) and dorsal flexion of the great toes. Motor development was delayed, and spasticity developed first in the lower and then in the upper extremities. The patients never learned to walk. All females of the family were normal. \n",
+        "ann": "89\t107\tspastic paraplegia\tHP:0001258\n170\t196\tpatients were quadriplegic\tHP:0002445\n205\t218\tmotor aphasia\tHP:0002427\n220\t234\treduced vision\tHP:0007663\n236\t259\tmild mental retardation\tHP:0001256\n328\t343\tchoreoathetosis\tHP:0001266\n480\t489\tnystagmus\tHP:0000639\n565\t594\tMotor development was delayed\tHP:0001270\n610\t626\tspasticity\tHP:0001257"
+    },
+    {
+        "id": "228930",
+        "corpus": "In 2 boys and a girl of a Turkish-Arabian family working in Germany, Fuhrmann et al. (1980) described a 'new' syndrome consisting of bowing of the femurs, aplasia or hypoplasia of the fibula, and poly-, syn-, and oligodactyly. Parental consanguinity was denied. However, both parents belonged to the same Christian minority from the same province. Other findings included hypoplasia of pelvis, congenital dislocation of hips, absence or coalescence of tarsal bones, absence of various metatarsals, hypoplasia of fingers and fingernails, and postaxial polydactyly. The bowing of the femurs looked like that of camptomelia. Fuhrmann et al. (1982) provided follow-up, including the prenatal diagnosis of a fourth affected sib and the anatomic findings in the abortus.   In a male and female offspring of Turkish parents related as cousins once removed, Pfeiffer et al. (1988) observed a lethal syndrome consisting of absence of the fibula and ulna with oligodactyly, joint contractures, right-angle bowing of the femurs, cleft lip and palate, and, in the sib examined, an Arnold-Chiari anomaly with communicating hydrocephalus, caudally displaced cerebellum with absence of the velum medullare and of the posterior vermis, and focal microgyria in the frontal area. The first infant was delivered at 28 weeks by cesarean section because of premature labor and lived only a short period. The upper lip appeared attached to the nose because the tongue was squeezed into the cleft lip. The abnormalities in the second affected child were detected at 20 weeks of the pregnancy by ultrasonography and the pregnancy was terminated. The patients of Fuhrmann et al. (1980) and Pfeiffer et al. (1988) came from different parts of Turkey. Lipson et al. (1991) reported 2 unrelated cases, 1 from a consanguineous Vietnamese family and the second from a nonconsanguineous Polish family.   In an extensive and highly inbred Muslim family from Pakistan, Kumar et al. (1997) described 4 children with a similar pattern of skeletal abnormalities, including aplasia/hypoplasia of the ulnas, hypoplasia of the pelvis, aplasia/hypoplasia of the femurs, fibular aplasia, and variable digital abnormalities, as well as absent/dysplastic nails. Overlap was recognized with Fuhrmann syndrome and with the Al-Awadi/Raas-Rothschild syndrome (276820). It also had similarities to the femur-fibula-ulna syndrome, or FFU syndrome (228200).   Woods et al. (2006) analyzed the Pakistani Muslim family described by Kumar et al. (1997). Two further affected individuals had been born who conformed to the original phenotype. In the upper limbs hypoplasia/aplasia of the ulnar rays was identified, which was accompanied by shortening and bowing of the radius. The fifth digits were hypoplastic but all other elements were present. There was hypoplasia of the nails with a radial-ulnar gradient; the thumbs were the most severely affected, with complete absence of the nails. The pelvis was highly abnormal, with hypoplastic iliac wings and, in 1 case, absent os ischii. The patellae were absent and in 1 subject the knee joints were fused. There was complete absence of the toenails and loss of individual toes. In each affected person limb involvement was symmetrical, legs were more affected than arms, and the functional deficit was far greater than that expected because of limb shortening alone.   Aynaci et al. (2001) described a single case of presumed Fuhrmann syndrome in a male newborn in a consanguineous Turkish family.   Huber et al. (2003) described 2 unrelated boys with bilateral fibular aplasia, poly- and oligodactyly, and bowed tibiae in 2 nonconsanguineous Brazilian families. These cases were similar to those reported by Fuhrmann et al. (1980) and supported the view that this entity is a distinct combination of developmental limb anomalies. \n",
+        "ann": "133\t153\tbowing of the femurs\tHP:0002980\n166\t190\thypoplasia of the fibula\tHP:0003038\n213\t225\toligodactyly\tHP:0012165\n372\t392\thypoplasia of pelvis\tHP:0008839\n437\t464\tcoalescence of tarsal bones\tHP:0005802\n498\t519\thypoplasia of fingers\tHP:0009381\n498\t535\thypoplasia of fingers and fingernails\tHP:0001804\n541\t562\tpostaxial polydactyly\tHP:0100259\n568\t588\tbowing of the femurs\tHP:0002980\n609\t620\tcamptomelia\tHP:0006487\n914\t935\tabsence of the fibula\tHP:0002990\n950\t962\toligodactyly\tHP:0012165\n964\t982\tjoint contractures\tHP:0001371\n996\t1016\tbowing of the femurs\tHP:0002980\n1018\t1027\tcleft lip\tHP:0410030\n1018\t1038\tcleft lip and palate\tHP:0000175\n1096\t1123\tcommunicating hydrocephalus\tHP:0001334\n1224\t1240\tfocal microgyria\tHP:0032471\n1230\t1260\tmicrogyria in the frontal area\tHP:0006821\n1387\t1414\tupper lip appeared attached\tHP:0010803\n1439\t1473\ttongue was squeezed into the cleft\tHP:0010297\n1468\t1477\tcleft lip\tHP:0410030\n2003\t2025\tskeletal abnormalities\tHP:0000924\n2070\t2094\thypoplasia of the pelvis\tHP:0008839\n2130\t2145\tfibular aplasia\tHP:0002990\n2151\t2181\tvariable digital abnormalities\tHP:0011297\n2194\t2217\tabsent/dysplastic nails\tHP:0002164\n2367\t2380\tulna syndrome\tHP:0002997\n2596\t2618\tupper limbs hypoplasia\tHP:0009824\n2686\t2721\tshortening and bowing of the radius\tHP:0002984\n2727\t2756\tfifth digits were hypoplastic\tHP:0009237\n2804\t2827\thypoplasia of the nails\tHP:0001792\n2916\t2936\tabsence of the nails\tHP:0001792\n2975\t2998\thypoplastic iliac wings\tHP:0002866\n3037\t3057\tpatellae were absent\tHP:0006443\n3122\t3145\tabsence of the toenails\tHP:0001792\n3067\t3101\tsubject the knee joints were fused\tHP:0002815\n3341\t3356\tlimb shortening\tHP:0009826\n3549\t3574\tbilateral fibular aplasia\tHP:0004977\n3586\t3598\toligodactyly\tHP:0012165\n3604\t3616\tbowed tibiae\tHP:0002982\n3812\t3826\tlimb anomalies\tHP:0002813"
+    },
+    {
+        "id": "613909",
+        "corpus": "Jiang et al. (2010) reported a Chinese family with an autosomal dominant form of spinocerebellar ataxia. There was a broad range of age at onset, particularly among females. Those with onset of ataxia before age 40 years showed cognitive impairment, and brain MRI showed cerebellar atrophy. All affected males were infertile and had azoospermia with testicular atrophy. Testicular biopsy from 1 male showed complete absence of germ cells and progenitors. \n",
+        "ann": "97\t103\tataxia\tHP:0001251\n194\t200\tataxia\tHP:0001251\n228\t248\tcognitive impairment\tHP:0100543\n271\t289\tcerebellar atrophy\tHP:0001272\n333\t344\tazoospermia\tHP:0000027\n350\t368\ttesticular atrophy\tHP:0000029"
+    },
+    {
+        "id": "133100",
+        "corpus": "Engelking (1920) and Wieland (1932) separately reported a family in which 11 members of 3 generations had erythrocytosis. In some, the abnormality was noted in childhood. A patient reported by Auerbach et al. (1958) was again reported by Cassileth and Hyman (1966) with family study.   Ly et al. (1983) reported 5 persons in 3 generations with familial erythrocytosis associated with decreased serum erythropoietin. Hemoglobin function and 2,3-diphosphoglycerate were normal.   Prchal et al. (1985) reported a family with autosomal dominant inheritance of erythrocytosis. Affected members had increased serum red blood cell mass, increased hemoglobin, and decreased EPO levels. Arterial oxygen levels and blood oxygen affinity were normal. In vitro erythroid colony forming units showed significantly increased stimulation by low levels of EPO.   Quiesser et al. (1988) described erythrocytosis in 7 members of a family in 4 generations with male-to-male transmission. The propositus was first diagnosed at age 26 years. He had headaches and marked plethora. Erythropoietin levels were not elevated. The disorder was characterized in middle age in other members of the family by hypertension, cardiovascular and thromboembolic phenomena, and abnormal bleeding. The proband was treated successfully with repeated venous phlebotomies.   Juvonen et al. (1991) reported a large Finnish family with autosomal dominant erythrocytosis. In vitro studies showed hypersensitivity of erythroid progenitors to EPO. The erythrocytosis had not had any obvious effect on the health or life span of the affected individuals. In fact, many reached an advanced age and 1 won several Olympic gold medals and world championships in endurance sports. \n",
+        "ann": "106\t120\terythrocytosis\tHP:0001901\n353\t367\terythrocytosis\tHP:0001901\n556\t570\terythrocytosis\tHP:0001901\n609\t628\tred blood cell mass\tHP:0001898\n630\t650\tincreased hemoglobin\tHP:0001900\n880\t894\terythrocytosis\tHP:0001901\n1028\t1037\theadaches\tHP:0002315\n1049\t1057\tplethora\tHP:0001050\n1179\t1191\thypertension\tHP:0000822\n1212\t1227\tthromboembolic\tHP:0001907\n1242\t1259\tabnormal bleeding\tHP:0001892\n1312\t1331\tvenous phlebotomies\tHP:0004936\n1413\t1427\terythrocytosis\tHP:0001901\n1507\t1521\terythrocytosis\tHP:0001901"
+    },
+    {
+        "id": "300845",
+        "corpus": "Herve et al. (2010) reported an Algerian family in which 5 males were affected with a multisystem disorder characterized by moyamoya angiopathy, short stature, hypergonadotropic hypogonadism, facial dysmorphism, and early-onset cataracts. The proband developed repeated episodes of sudden right arm weakness at age 22 years, and was later found to have cortical and subcortical infarcts associated with moyamoya disease on brain imaging. He had facial dysmorphism, with mild congenital ptosis, long philtrum, retrognathia, and premature graying of the hair. He also had short stature, hypergonadotropic hypogonadism, decreased testicular volume, and azoospermia. Cardiac function was compromised due to dilated cardiomyopathy. He had recurrent episodes of heart failure and neurologic deficits, and died at age 34 years of heart failure.   Miskinyte et al. (2011) described the family reported by Herve et al. (2010) and 2 additional unrelated families with a similar disorder. There were 9 affected males in all. The age at onset of acute neurologic events ranged between 4 and 36 years of age, and both cerebral infarcts and hemorrhages occurred. All had short stature and facial dysmorphism, which variably included wide nose, deep-set eyes, low-set ears, hypertelorism, ptosis, long philtrum, and flared nares. Other features included hypergonadotropic hypogonadism (7/9 patients), hypertension (3/9 patients), partial growth hormone deficiency (4/9 patients), dilated cardiomyopathy (3/9 patients), premature coronary heart disease (1/9 patients), and premature hair graying (6/9 patients). Gonadal failure was associated with azoospermia. Four patients in 1 family had early-onset cataracts, and 2 patients from another family had developmental delay. \n",
+        "ann": "145\t158\tshort stature\tHP:0004322\n160\t190\thypergonadotropic hypogonadism\tHP:0000815\n192\t210\tfacial dysmorphism\tHP:0001999\n228\t237\tcataracts\tHP:0000518\n289\t307\tright arm weakness\tHP:0003484\n366\t397\tsubcortical infarcts associated\tHP:0007236\n445\t463\tfacial dysmorphism\tHP:0001999\n475\t492\tcongenital ptosis\tHP:0007970\n494\t507\tlong philtrum\tHP:0000343\n509\t521\tretrognathia\tHP:0000278\n527\t556\tpremature graying of the hair\tHP:0002216\n570\t583\tshort stature\tHP:0004322\n585\t615\thypergonadotropic hypogonadism\tHP:0000815\n617\t644\tdecreased testicular volume\tHP:0008734\n650\t661\tazoospermia\tHP:0000027\n703\t725\tdilated cardiomyopathy\tHP:0001644\n756\t769\theart failure\tHP:0001635\n823\t836\theart failure\tHP:0001635\n1175\t1193\tfacial dysmorphism\tHP:0001999\n1219\t1228\twide nose\tHP:0000445\n1230\t1243\tdeep-set eyes\tHP:0000490\n1245\t1257\tlow-set ears\tHP:0000369\n1259\t1272\thypertelorism\tHP:0000316\n1274\t1280\tptosis\tHP:0000508\n1282\t1295\tlong philtrum\tHP:0000343\n1301\t1313\tflared nares\tHP:0000454\n1339\t1369\thypergonadotropic hypogonadism\tHP:0000815\n1386\t1398\thypertension\tHP:0000822\n1423\t1448\tgrowth hormone deficiency\tHP:0000824\n1465\t1487\tdilated cardiomyopathy\tHP:0001644\n1504\t1536\tpremature coronary heart disease\tHP:0005181\n1557\t1579\tpremature hair graying\tHP:0002216\n1632\t1643\tazoospermia\tHP:0000027\n1687\t1696\tcataracts\tHP:0000518\n1737\t1756\tdevelopmental delay\tHP:0001263"
+    },
+    {
+        "id": "607271",
+        "corpus": "Chun et al. (2002) reported 2 sibs, a 12-year-old female and an 11-year-old male, born of consanguineous parents, who presented with lymphadenopathy and splenomegaly associated with an immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections. Both sibs showed poor responses to immunization. The affected sibs had defects in activation of T lymphocytes, B lymphocytes, and natural killer cells, and defective CD95-mediated apoptosis. The unaffected mother, father, and sister were clinically well, although their peripheral blood lymphocytes showed partial defects in CD95-mediated apoptosis. \n",
+        "ann": "133\t148\tlymphadenopathy\tHP:0002716\n153\t165\tsplenomegaly\tHP:0001744\n185\t201\timmunodeficiency\tHP:0002721"
+    },
+    {
+        "id": "615897",
+        "corpus": "Martin et al. (2014) reported 5 families with 1 or 2 affected children in the northwest region of England who suffered from early onset of severe chronic viral infections, mostly caused by herpesviruses, including EBV and VZV, as well as recurrent encapsulated bacterial infections. Two patients had EBV-driven B-cell non-Hodgkin lymphoma. Overall, the clinical phenotype was severe, with 3 patients having died. Six of 8 patients underwent hematopoietic stem cell transplantation. None of the patients had extra-hematopoietic manifestations. Immunologic investigations showed that most patients had variable lymphopenia, which was exacerbated during infectious episodes with inversed CD4/CD8 T-cell ratio (601083), whereas other blood cell counts were usually normal. IgG levels were normal or elevated with increased IgG but low IgG2 levels with low antibody titers to Streptococcus pneumoniae. Further analyses performed in 1 patient showed naive CD4+ T-cell lymphopenia, increased numbers of effector memory T cells, low numbers of memory CD27+ B cells, a complete absence of both invariant T-cell populations (iNKT and MAIT cells), and impaired PHA- and antigen-induced proliferation of peripheral blood mononuclear cells. ",
+        "ann": "154\t170\tviral infections\tHP:0004429\n238\t281\trecurrent encapsulated bacterial infections\tHP:0002718\n304\t338\tdriven B-cell non-Hodgkin lymphoma\tHP:0012191\n609\t620\tlymphopenia\tHP:0001888\n809\t822\tincreased IgG\tHP:0003237\n827\t842\tlow IgG2 levels\tHP:0008348\n848\t867\tlow antibody titers\tHP:0004313\n962\t973\tlymphopenia\tHP:0001888"
+    },
+    {
+        "id": "615685",
+        "corpus": "Novarino et al. (2014) reported a complicated form of spastic paraplegia with polysensory and motor neuropathy in 2 branches of a highly consanguineous family (family 827). In each branch of the family, 2 sibs were affected. Phenotypic features of only one set of sibs were described. Both presented at 14 months of age with inability to walk unsupported and with a scissors gait. At their last examinion at ages 11 and 12 years, both had difficulty walking with support and were essentially considered nonambulatory. Both had spasticity with increased patellar and absent Achilles tendon reflexes as well as diffuse polysensory and motor neuropathy with loss of terminal digits due to acropathy. Both had normal cognition. Novarino et al. (2014) called the disorder in this family spastic paraplegia-61. \n",
+        "ann": "54\t72\tspastic paraplegia\tHP:0001258\n94\t110\tmotor neuropathy\tHP:0007178\n325\t342\tinability to walk\tHP:0002540\n366\t379\tscissors gait\tHP:0012407\n439\t457\tdifficulty walking\tHP:0002355\n527\t537\tspasticity\tHP:0001257\n543\t561\tincreased patellar\tHP:0003045\n566\t597\tabsent Achilles tendon reflexes\tHP:0003438\n633\t649\tmotor neuropathy\tHP:0007178\n655\t678\tloss of terminal digits\tHP:0009832\n782\t800\tspastic paraplegia\tHP:0001258"
+    },
+    {
+        "id": "116600",
+        "corpus": "In Nettleship's family (Nettleship, 1909, 1912), congenital posterior polar opacities were present and scattered cortical opacities appeared in childhood and progressed to total cataract. Tulloh (1955) described 15 affected in 5 generations. Valk and Binkhorst (1956) described associated choroideremia and myopia in 2 generations.   Ionides et al. (1997) reported 10 affected members of a family with autosomal dominant posterior polar cataract. The opacity, which was bilateral in all cases, consisted of a single well-defined plaque confined to the posterior pole of the lens and varied from 0.5 to 3 mm in diameter. Because of its proximity to the optical center of the eye, posterior polar cataract can have a marked effect on visual acuity. Hospital records indicated that the opacity was usually present at birth or developed within the first few months of life but did not progress with age to other regions of the lens. There was no evidence of posterior lenticonus or high myopia and no family history of other ocular or systemic abnormalities.   McKay et al. (2005) studied a 6-generation Tasmanian family segregating autosomal dominant congenital cataract, previously studied by Burdon et al. (2004), in which most of the 13 patients were elderly and aphakic with no preoperative clinical notes available, although cataracts in 2 patients had been described as 'complete.' Most affected individuals were diagnosed shortly after birth, and the mean age of cataract surgery was 3 years, 4 months. Of the 12 aphakic patients, 11 had nystagmus, 2 had exotropia, 4 had esotropia, and 4 had bilateral aphakic glaucoma. One obligate carrier was phakic with good vision, but unavailable for slit-lamp examination. No other ocular or systemic abnormalities were noted in this family.   Shiels et al. (2008) studied a 4-generation Caucasian family segregating autosomal dominant posterior polar cataracts with no systemic abnormalities. Ophthalmic records indicated that the cataracts usually presented in both eyes as disc-shaped posterior subcapsular opacities with evidence of posterior lenticonus. In 3 affected individuals, opacification progressed to affect the central (nuclear) and anterior polar regions of the lens. One affected individual also had monocular amblyopia, and 2 others developed strabismus requiring corrective surgery. Age at diagnosis ranged from birth to 15 years, and age at surgery ranged from 0 to 44 years; post-surgical corrected visual acuity varied from 20/20 to 20/70 in the better eye. ",
+        "ann": "178\t186\tcataract\tHP:0000518\n289\t302\tchoroideremia\tHP:0001139\n307\t313\tmyopia\tHP:0000545\n421\t445\tposterior polar cataract\tHP:0001115\n679\t703\tposterior polar cataract\tHP:0001115\n715\t745\tmarked effect on visual acuity\tHP:0001141\n954\t974\tposterior lenticonus\tHP:0011502\n978\t989\thigh myopia\tHP:0011003\n1129\t1167\tautosomal dominant congenital cataract\tHP:0000519\n1327\t1336\tcataracts\tHP:0000518\n1467\t1495\tcataract surgery was 3 years\tHP:0011141\n1542\t1551\tnystagmus\tHP:0000639\n1559\t1568\texotropia\tHP:0000577\n1576\t1585\tesotropia\tHP:0000565\n1615\t1623\tglaucoma\tHP:0000501\n1881\t1906\tposterior polar cataracts\tHP:0001115\n1977\t1986\tcataracts\tHP:0000518\n2033\t2064\tposterior subcapsular opacities\tHP:0007787\n2082\t2102\tposterior lenticonus\tHP:0011502\n2271\t2280\tamblyopia\tHP:0000646\n2295\t2325\tdeveloped strabismus requiring\tHP:0025069"
+    },
+    {
+        "id": "112250",
+        "corpus": "Arnold (1973) described several generations of a Vermont and New York kindred demonstrating multiple areas of necrosis in the diaphyses of the large tubular bones. The radiographic appearance of this skeletal condition resembled radiation osteitis, a highly premalignant condition; however, no source of radiation exposure was found in this family. Medullary fibrosarcoma, an uncommon bone tumor, was noted in 4 of the 12 affected members. Death had occurred from widespread metastases at ages varying from 23 to 48 years. Occurrence of fibrosarcoma in idiopathic bone infarcts (Furey et al., 1960) and in an infarct in a caisson worker (Dorfman et al., 1966) has been reported. Camacho-Vanegas et al. (2012) noted that 2 affected male individuals in the family reported by Arnold (1973) died of heart disease in their early forties without other known risk factors, and suggested that this may be a manifestation of the disorder.   Hardcastle et al. (1986) gave follow-up information on the original American family and reported 2 other families, one English and the other Australian. They could find no reports of any hereditary or acquired condition similar to that in these 3 families. They suggested that the malignant change should be labeled 'malignant fibrous histiocytoma' rather than fibrosarcoma because the tumors were markedly aggressive. The malignancy occurred generally in the second to fifth decades of life. They defined the skeletal dysplasia as a diaphyseal medullary stenosis with overlying cortical bone thickening. The occurrence of fracture with minimal trauma was emphasized.   Norton et al. (1996) reported a 19-year-old boy who presented with a nontender mass on the left tibia that proved to be a pleiomorphic spindle cell sarcoma. Radiographs of the affected leg showed extensive diaphyseal cortical thickening and a medullary permeative pattern in the diaphysis. Radiographs of the patient's mother and maternal grandmother showed a similar bony dysplasia, with areas of infarction and medullary sclerosis. The lower extremities were more affected than the upper extremities in all 3 cases. Family history was significant for the death of the maternal great-grandmother at age 32 from 'metastatic osteosarcoma.' Norton et al. (1996) commented on the similarities to the families reported by Hardcastle et al. (1986) and noted that the malignant fibrous histiocytomas in this condition presumably begin at the sites of infarction within the affected bone.   Henry et al. (1958) reported a Canadian family in which 6 men had delayed healing of fractures of the long bones and later developed myopathy. Mehta et al. (2006) provided follow-up on the family reported by Henry et al. (1958); features of 8 living and 8 deceased family members with the disorder were evaluated. In this family, fractures preceded myopathy: the average age at onset of limb-girdle myopathy was 31 years, whereas that of fractures was 24 years. Fractures were primarily of the long bones of the lower limbs and were associated with poor healing and osteomyelitis, leading to amputation in some cases. Serum creatine kinase was mildly increased, and alkaline phosphatase was normal. Radiographs showed coarse trabeculation, patchy sclerosis, cortical thickening, and narrowing of the medullary cavities of the long bones. The findings were not consistent with Paget disease (602080). Muscle biopsies showed nonspecific myopathic changes without necrotic fibers, regenerating fibers, inflammatory infiltrates, or structural abnormalities. Many affected family members had premature graying of the hair and soft, thin skin, and 3 affected members had a clotting disorder. \n",
+        "ann": "110\t135\tnecrosis in the diaphyses\tHP:0010885\n149\t162\ttubular bones\tHP:0011314\n359\t371\tfibrosarcoma\tHP:0100244\n385\t395\tbone tumor\tHP:0010622\n537\t549\tfibrosarcoma\tHP:0100244\n553\t577\tidiopathic bone infarcts\tHP:0010885\n796\t809\theart disease\tHP:0001627\n1268\t1280\thistiocytoma\tHP:0012315\n1282\t1306\trather than fibrosarcoma\tHP:0100244\n1319\t1325\ttumors\tHP:0002664\n1443\t1451\tskeletal dysplasia\tHP:0002652\n1467\t1496\tdiaphyseal medullary stenosis\tHP:0100254\n1512\t1536\tcortical bone thickening\tHP:0100039\n1746\t1758\tcell sarcoma\tHP:0100242\n1867\t1891\tpattern in the diaphysis\tHP:0000940\n2026\t2035\tsclerosis\tHP:0011001\n2227\t2239\tosteosarcoma\tHP:0002669\n2383\t2396\thistiocytomas\tHP:0012315\n2448\t2483\tinfarction within the affected bone\tHP:0010885\n2553\t2599\tdelayed healing offractures of the long bones\tHP:0032537\n2620\t2628\tmyopathy\tHP:0003198\n2836\t2844\tmyopathy\tHP:0003198\n2886\t2894\tmyopathy\tHP:0003198\n3053\t3067\tosteomyelitis\tHP:0002754\n3079\t3089\tamputation\tHP:0005010\n3227\t3243\tpatchy sclerosis\tHP:0005686\n3270\t3305\tnarrowing of the medullary cavities\tHP:0032458\n3287\t3323\tmedullary cavities of the long bones\tHP:0100253\n3422\t3439\tmyopathic changes\tHP:0003198\n3574\t3603\tpremature graying of the hair\tHP:0002216\n3614\t3623\tthin skin\tHP:0000963\n3654\t3671\tclotting disorder\tHP:0001928"
+    },
+    {
+        "id": "309585",
+        "corpus": "Wilson et al. (1991) described a kindred in which males in 5 successive generations in an X-linked recessive pedigree pattern had a mental retardation syndrome. The 14 living males in the 3 most recent generations permitted definition of other features: obesity, gynecomastia, speech difficulties, emotional lability, tapering fingers, and small feet. Some of the features resembled those of Borjeson-Forssman-Lehmann syndrome (BFLS; 301900), but the patients of Wilson et al. (1991) did not have hypermetropia or cataracts in later life and did not have elongated earlobes. As pointed out by Frezal (1992), the same condition was reported by Vasquez et al. (1979). Turner (1992) had suggested that the patients of Vasquez et al. (1979) might have had BFLS.   Harakalova et al. (2012) reported a 5-generation Dutch family in which 7 males had a syndromic form of severe intellectual disability and 7 females had a milder phenotype. The males had mental retardation, truncal obesity, gynecomastia, hypogonadism, short stature, small hands, and a typical face characterized by a small head, small ears, prominent supraorbital ridges, deep-set eyes, high malar bones, broad nasal tip, columella somewhat below the nasal alae, thin upper vermilion, and retrognathia. None of the men could live independently. Female carriers had learning disorders and recognizable facial features, including high malar bones and broad nasal tip. In addition, 2 males and 1 female had learning problems without additional features. Harakalova et al. (2012) stated that the phenotype resembled that described by Wilson et al. (1991), which differs by larger stature and head, larger chin, coarser facial features, and tapering fingers. Moreover, females in the family reported by Wilson et al. (1991) were not affected. ",
+        "ann": "132\t159\tmental retardation syndrome\tHP:0001249\n254\t261\tobesity\tHP:0001513\n263\t275\tgynecomastia\tHP:0000771\n277\t296\tspeech difficulties\tHP:0000750\n298\t316\temotional lability\tHP:0000712\n318\t334\ttapering fingers\tHP:0001182\n340\t350\tsmall feet\tHP:0001773\n497\t510\thypermetropia\tHP:0000540\tNeg\n514\t523\tcataracts\tHP:0000518\n863\t893\tsevere intellectual disability\tHP:0010864\n946\t964\tmental retardation\tHP:0001249\n966\t981\ttruncal obesity\tHP:0001956\n983\t995\tgynecomastia\tHP:0000771\n997\t1009\thypogonadism\tHP:0000135\n1011\t1024\tshort stature\tHP:0004322\n1026\t1037\tsmall hands\tHP:0200055\n1077\t1087\tsmall head\tHP:0000252\n1089\t1099\tsmall ears\tHP:0008551\n1101\t1130\tprominent supraorbital ridges\tHP:0000336\n1132\t1145\tdeep-set eyes\tHP:0000490\n1147\t1163\thigh malar bones\tHP:0012369\n1165\t1180\tbroad nasal tip\tHP:0000455\n1182\t1216\tcolumella somewhat below the nasal\tHP:0009765\n1223\t1243\tthin upper vermilion\tHP:0000219\n1249\t1261\tretrognathia\tHP:0000278\n1348\t1367\trecognizable facial\tHP:0001999\n1361\t1376\tfacial features\tHP:0001999\n1388\t1404\thigh malar bones\tHP:0012369\n1409\t1424\tbroad nasal tip\tHP:0000455\n1629\t1652\tlarger stature and head\tHP:0000256\n1667\t1690\tcoarser facial features\tHP:0000280\n1696\t1712\ttapering fingers\tHP:0001182"
+    },
+    {
+        "id": "615159",
+        "corpus": "Barel et al. (2008) reported a large consanguineous Israeli Bedouin kindred in which 25 individuals had an autosomal recessive syndrome comprising severe psychomotor retardation and extrapyramidal signs. Affected individuals seemed normal at birth without any dysmorphic features, but showed developmental delay in the first few months of life. Neurologic features included dystonia, athetoid movements, ataxia, mild axial hypotonia, increased tone, hyperreflexia, and inability to walk unsupported. Other features included restlessness, marked global dementia, severe defects in verbal receptive communication, and near total absence of expressive communication skills, with inability to express any words at any age. The phenotype was not lethal, with some affected individuals surviving well into their thirties. Brain MRI in 5 patients showed bilateral symmetric abnormal findings in the basal ganglia. Serum lactate was mildly elevated and muscle biopsies showed a reduction in mitochondrial complex III activity. \n",
+        "ann": "107\t135\tautosomal recessive syndrome\tHP:0000007\n147\t177\tsevere psychomotor retardation\tHP:0011344\n182\t202\textrapyramidal signs\tHP:0002071\n292\t311\tdevelopmental delay\tHP:0001263\n345\t364\tNeurologic features\tHP:0000707\n374\t382\tdystonia\tHP:0001332\n384\t402\tathetoid movements\tHP:0002305\n404\t410\tataxia\tHP:0001251\n412\t432\tmild axial hypotonia\tHP:0008936\n434\t448\tincreased tone\tHP:0001276\n450\t463\thyperreflexia\tHP:0001347\n469\t486\tinability to walk\tHP:0002540\n524\t536\trestlessness\tHP:0000711\n552\t560\tdementia\tHP:0000726\n857\t905\tsymmetric abnormal findings in the basal ganglia\tHP:0007039\n970\t1017\treduction in mitochondrial complex III activity\tHP:0011924"
+    },
+    {
+        "id": "234100",
+        "corpus": "Hallermann (1948) and Streiff (1950) reported patients with dyscephaly, a 'bird-like' face, congenital cataracts, and microphthalmia. Francois (1958) identified similar reported cases with the additional features of hypotrichosis, skin atrophy, dental anomalies, and short stature.   Dental features were discussed by Caspersen and Warburg (1968).   Steele and Bass (1970) emphasized the lack of mandibular angle and hypoplasia of the clavicles and ribs.   Warburg (1971) emphasized that the diagnosis is doubtful in the absence of cataract or microphthalmia.   Cohen (1991) warned of the potential complications related to the narrow upper airway and suggested that snoring and/or daytime hypersomnolence are indications for sleep studies. Robinow (1991) also emphasized the risks of problems with upper airway obstruction in HSS, particularly in the neonatal period and in infancy. Obstruction may result from small nares and glossoptosis secondary to micrognathia and these may lead to cor pulmonale. Salbert et al. (1991) pointed to tracheomalacia as a complication of HSS that can lead to chronic respiratory insufficiency. Such resulted in biventricular cardiac failure and death at the age of 6 months.   Harrod and Friedman (1991) described a woman with HSS who had a son with congenital cataracts. Furthermore, her mother and a sister also had congenital cataracts. Harrod and Friedman (1991) were perplexed by these observations. The cataracts in the patient with HSS were no more severe than those in first-degree relatives who had only cataracts.   Radiologic findings in 5 cases and in the literature were reviewed by Christian et al. (1991).   Nosologic overlap with oculodentodigital dysplasia (ODDD; 164200) was discussed by Spaepen et al. (1991).   Congenital heart defects are rare in HSS. Imaizumi et al. (1994) reported what they believed to be the fourth case associated with congenital heart defect in a boy who had ventricular septal defects.   Mirshekari and Safar (2004) described a 26-year-old woman with Hallermann-Streiff syndrome. She had hypotrichosis, bird-like facies, atrophy of the skin (especially on the nose), abnormal dentition, and congenital bilateral cataracts, but was not dwarfed and did not have mental retardation.   - Clinical Variability   Dennis et al. (1995) described a family in which a male infant who died neonatally and a female fetus who died at 29 weeks of gestation had an identical condition resembling Hallermann-Streiff syndrome. Long bones were slender with a few fractures, the skull was underossified, and the face was characteristic of HSS. Bilateral cataracts were identified in the male. They regarded the condition as a severe and lethal form of HSS. \n",
+        "ann": "75\t90\tbird-like' face\tHP:0000320\n92\t112\tcongenital cataracts\tHP:0000519\n118\t132\tmicrophthalmia\tHP:0000568\n216\t229\thypotrichosis\tHP:0001006\n231\t243\tskin atrophy\tHP:0004334\n245\t261\tdental anomalies\tHP:0000164\n267\t280\tshort stature\tHP:0004322\n417\t444\thypoplasia of the clavicles\tHP:0000894\n417\t453\thypoplasia of the clavicles and ribs\tHP:0000773\n532\t540\tcataract\tHP:0000518\n544\t558\tmicrophthalmia\tHP:0000568\n667\t674\tsnoring\tHP:0025267\n682\t705\tdaytime hypersomnolence\tHP:0002189\n799\t823\tupper airway obstruction\tHP:0002781\n912\t923\tsmall nares\tHP:0009933\n928\t940\tglossoptosis\tHP:0000162\n954\t966\tmicrognathia\tHP:0000347\n989\t1002\tcor pulmonale\tHP:0001648\n1037\t1051\ttracheomalacia\tHP:0002779\n1094\t1127\tchronic respiratory insufficiency\tHP:0002093\n1146\t1175\tbiventricular cardiac failure\tHP:0001635\n1285\t1305\tcongenital cataracts\tHP:0000519\n1353\t1373\tcongenital cataracts\tHP:0000519\n1444\t1453\tcataracts\tHP:0000518\n1548\t1557\tcataracts\tHP:0000518\n1766\t1790\tCongenital heart defects\tHP:0001627\n1897\t1920\tcongenital heart defect\tHP:0001627\n2083\t2099\tbird-like facies\tHP:0000320\n2101\t2120\tatrophy of the skin\tHP:0004334\n2147\t2165\tabnormal dentition\tHP:0000164\n2171\t2201\tcongenital bilateral cataracts\tHP:0000519\n2240\t2258\tmental retardation\tHP:0001249\n2490\t2513\tLong bones were slender\tHP:0003100\n2540\t2563\tskull was underossified\tHP:0004331\n2573\t2596\tface was characteristic\tHP:0001999\n2605\t2624\tBilateral cataracts\tHP:0000518"
+    },
+    {
+        "id": "605387",
+        "corpus": "Yamada et al. (2000) described a Japanese family in which 10 members in 4 generations were affected with autosomal dominant posterior polar cataract. The cataract was characterized by progressive, disc-shaped, posterior subcapsular opacity.   Shiels et al. (2007) reported 15 affected individuals in a large 6-generation Caucasian family with progressive childhood posterior subcapsular cataracts. Cataracts progressed with age to affect the nucleus and anterior subcapsular regions of the lens. Age at diagnosis varied from 4 to 20 years. \n",
+        "ann": "124\t148\tposterior polar cataract\tHP:0001115\n154\t162\tcataract\tHP:0000518\n210\t239\tposterior subcapsular opacity\tHP:0007787\n365\t396\tposterior subcapsular cataracts\tHP:0007787\n398\t418\tCataracts progressed\tHP:0007834"
+    },
+    {
+        "id": "200700",
+        "corpus": "Grebe (1952, 1955) described the disorder in 7- and 11-year-old sisters, offspring of a consanguineous mating. (The name is pronounced GRAY-beh.) The same disorder was found in Brazil by Quelce-Salgado (1964). In these cases, all 4 limbs are markedly shortened and end in tiny digits. The trunk and head are normal. A case with childhood and adult radiographic studies was presented by Scott (1969).   Romeo et al. (1977) described 2 patients, each with an entity similar to but distinct from Grebe chondrodysplasia. Teebi et al. (1986) reviewed the adult case reported by Romeo et al. (1977) and added the case of an infant who, in their view, has the same disorder, a condition separate from Grebe chondrodysplasia. Meera Khan and Khan (1982) described 6 cases distributed in 3 sibships in 3 generations of an inbred kindred in India. The parents were consanguineous in each of the 3 sibships and the entire pedigree gave incontrovertible support to autosomal recessive inheritance. No radiologic or other abnormality was found in heterozygotes by Meera Khan and Khan (1982) or by Garcia-Castro and Perez-Comas (1975), although Quelce-Salgado (1968) mentioned that x-ray studies of the parents of one of his patients showed absence of some phalanges of the toes and changes in other phalanges, as well as talipes equinovarus, polydactyly, and double halluces in more remote relatives.   Curtis (1986) called attention to a report of an inbred Miao Chinese kindred with 6 affected persons. The authors suggested that heterozygotes may have mild skeletal anomalies of the hands and feet. Curtis (1986) concluded that the family that she reported (Kumar et al., 1984) may have been an example of brachydactyly as a heterozygous manifestation of Grebe chondrodysplasia. Feng et al. (1985) reported an inbred kindred living in an isolated village of Yunnan province in China. Six of 13 children in 2 related sibships were affected. They stated that 65 affected individuals, including these 6, have been reported. In the 2 patients they studied in detail, the head and trunk were normal in marked contrast to severely malformed limbs. The anomalies progressed in severity distally in the limbs. The fingers and toes were replaced by small, bud-like or knob-like protrusions. Both patients were polydactylous. The skull and vertebral column were normal roentgenographically.   Costa et al. (1998) reported clinical and radiological findings in 10 affected individuals originating from Bahia, Brazil. The phenotype was characterized by a normal axial skeleton and severely shortened and deformed limbs, with a proximal-distal gradient of severity. The humeri and femora were relatively normal, the radii/ulnae and tibiae/fibulae were short and deformed, carpal and tarsal bones were fused, and several metacarpal and metatarsal bones were absent. The proximal and middle phalanges of the fingers and toes were invariably absent, while the distal phalanges were present. Postaxial polydactyly was found in several affected individuals. Several joints of the carpus, tarsus, hand, and foot were absent. Heterozygotes presented with a variety of skeletal manifestations, including polydactyly, brachydactyly, hallux valgus, and metatarsus adductus. \n",
+        "ann": "230\t260\t4 limbs are markedly shortened\tHP:0009815\n952\t983\tautosomal recessive inheritance\tHP:0000007\n1268\t1294\tchanges in other phalanges\tHP:0005918\n1307\t1326\ttalipes equinovarus\tHP:0001762\n1328\t1339\tpolydactyly\tHP:0010442\n1546\t1586\tskeletal anomalies of the hands and feet\tHP:0001760\n1555\t1577\tanomalies of the hands\tHP:0001155\n1695\t1708\tbrachydactyly\tHP:0001156\n2114\t2129\tmalformed limbs\tHP:0009815\n2290\t2303\tpolydactylous\tHP:0010442\n2567\t2595\tshortened and deformed limbs\tHP:0009815\n2748\t2782\tcarpal and tarsal bones were fused\tHP:0009702\n2759\t2782\ttarsal bones were fused\tHP:0008368\n2811\t2839\tmetatarsal bones were absent\tHP:0010744\n2894\t2921\ttoes were invariably absent\tHP:0010760\n2933\t2962\tdistal phalanges were present\tHP:0009832\n2964\t2995\tPostaxial polydactyly was found\tHP:0100259\n3077\t3093\tfoot were absent\tHP:0011301\n3172\t3183\tpolydactyly\tHP:0010442\n3185\t3198\tbrachydactyly\tHP:0001156\n3200\t3213\thallux valgus\tHP:0001822\n3219\t3238\tmetatarsus adductus\tHP:0001840"
+    },
+    {
+        "id": "613630",
+        "corpus": "Lahtela et al. (2010) described a Finnish family in which 5 pregnancies occurred. The parents were healthy, and their first pregnancy ended in a first-trimester miscarriage. In the second and third pregnancies, ultrasonography revealed multiple malformations of the fetuses at 13 and 12 weeks' gestation, respectively. These pregnancies were terminated at 14 and 13 weeks, respectively. The fourth and fifth pregnancies resulted in the births of normal infants. Samples were available from the parents and the 2 affected fetuses. At ultrasound, both fetus 1 and fetus 2 had an abnormal cyst in the cranial region, a large defect of the craniofacial area, and an omphalocele, as well as immotile and hypoplastic limbs. Autopsy of fetus 1 revealed a defect in the diaphragm, tetralogy of Fallot, and a horseshoe kidney. The skull bones were underdeveloped, and there was lobulation defect in both lungs, with 4 lobes on the right and 3 on the left. All the bones that were visible were hypoplastic but normal in number and configuration. Fetus 2 had 3 lung lobes in each lung; the other inner organs appeared normal. The skeletal muscles of both fetuses were very poorly developed, probably because of lack of movement. Bone structure revealed a normal growth plate with features of chondrodystrophy. Skin sections of the limbs were very thin, with only 2 to 5 layers of epidermal cells. The structure resembled a membrane. There was no basal hyperplasia. The stratum granulosum and horny layer were absent; however, both fetuses were below the age at which keratinization of the epidermis occurs. Skin on the outer aspects of the limbs had no adnexal structures, although some primitive hair follicles were seen. There was an island of squamous epithelium within the bony structures of the head, probably representing an unopened mouth. Based on Finnish genealogic analysis, Lahtela et al. (2010) concluded that the parents shared a common ancestor who lived in the eighteenth century.   Lahtela et al. (2010) pointed to the case reported by Stevenson et al. (1987), described as a 'cocoon fetus' with a similar encasement malformation. The general appearance of the fetus, born at 27 weeks' gestation, was most striking, with microcephaly, absent pinnae, protruding optic globes and conjunctivae, gaping mouth with protruding tongue, absent mandible, folding and fusion of all parts of the extremities to the trunk, and absent external genitalia. Pathologic examination revealed normal thoracic and abdominal viscera with intraabdominal testes. Skin from the scalp and buttocks histologically showed thinned dermis with absence of sweat glands and hair follicles, and thinned epidermis with hyperkeratosis, large keratohyaline granules in the granular layer, and absence of rete ridges. Epidermis and dermis were separated in all sections examined. \n",
+        "ann": "145\t172\tfirst-trimester miscarriage\tHP:0005268\n662\t673\tomphalocele\tHP:0001539\n699\t716\thypoplastic limbs\tHP:0009826\n748\t771\tdefect in the diaphragm\tHP:0000775\n773\t792\ttetralogy of Fallot\tHP:0001636\n800\t816\thorseshoe kidney\tHP:0000085\n822\t853\tskull bones were underdeveloped\tHP:0000252\n2226\t2238\tmicrocephaly\tHP:0000252\n2240\t2253\tabsent pinnae\tHP:0009892\n2255\t2278\tprotruding optic globes\tHP:0000520\n2334\t2349\tabsent mandible\tHP:0009939\n2420\t2445\tabsent external genitalia\tHP:0000042\n2691\t2705\thyperkeratosis\tHP:0000962"
+    },
+    {
+        "id": "157700",
+        "corpus": "Prolapse or buckling of one or both of the mitral leaflets into the left atrium during systole is common, occurring in 4 to 8% of young adults and more often in females than in males (Procacci et al., 1976; Darsee et al., 1979; Sbarbaro et al., 1979). The auscultatory findings are a midsystolic, nonejection click, a holo- or late-systolic mitral regurgitation murmur, or both; about 20% have 'silent' prolapse. M-mode and particularly cross-sectional echocardiography are sensitive, noninvasive methods of detecting the abnormal valve motion. Fibromyxomatous degeneration is generally found on histopathologic examination. In functional terms, mitral valve prolapse results from a valve-ventricle mismatch. Hutchins et al. (1986) pointed out that the fundamental fault is often not in the valve leaflets, but in the mitral annulus which is stretched with resulting disjunction between the atrium and ventricle. Because many abnormalities of the left ventricle or mitral valve apparatus can lead to prolapse, a wide range of etiologic and pathogenetic heterogeneity exists. Thus, MVP is associated with coronary artery disease, congestive or hypertrophic cardiomyopathy, atrial septal defect, papillary muscle or chorda tendinea rupture, and various heritable disorders of connective tissue (Marfan syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta). Most persons with MVP have none of these conditions and their MVP has been called idiopathic. Many such persons have chest pain, dyspnea, thoracic cage deformity (BonTempo et al., 1975; Salomon et al., 1975), dysrhythmia (Gooch et al., 1972), and distinctive anthropomorphic characteristics (Schutte et al., 1981) which suggest a syndrome. In some cases, a modicum of loose-jointedness may suggest a mild form of the Ehlers-Danlos syndrome.   Roberts (2005) noted a reported prevalence of 2.4% for MVP, based primarily on studies in European and North American populations.   Familial occurrence of MVP, often with associated features, was noted in early reports (Barlow and Bosman, 1966; Hunt and Sloman, 1969; Stannard et al., 1967; Shell et al., 1969). Some instances of panic attacks (neurocirculatory asthenia) reported in families represented MVP in all likelihood (Cohen et al., 1961). Screening pedigrees for MVP after relatively unbiased ascertainment of the proband has supported autosomal dominant inheritance in a high proportion of idiopathic MVP (Weiss et al., 1975; Fortuin et al., 1977; Devereux et al., 1982). Devereux et al. (1982) examined 45 probands and 179 first-degree relatives and found at least one relative affected by MVP in 29 families. Expression was age- and sex-dependent, with MVP more commonly found in young adult females than in children, the elderly, or men of any age. Except for anthropomorphic characteristics of narrower A-P chest diameter and longer arm spans than controls (Schutte et al., 1981), none of the other associated (perhaps pleiotropic) features of MVP syndrome have been demonstrated to follow dominant inheritance. The extent of genetic heterogeneity is also unclear. Nonetheless, MVP appears to be the most common mendelian cardiovascular abnormality in humans. The condition is usually benign and nonprogressive, although chordal rupture, bacterial endocarditis and sudden death occur, and myxomatous degeneration/MVP is the most common cause of severe, isolated mitral regurgitation in adults. No prospective, unbiased study of natural history has been performed, but prognosis in idiopathic MVP appears to be far better than for MVP in the Marfan syndrome, in which over 12% of patients developed progressive severe mitral regurgitation by age 22 years (Pyeritz and Woppel, 1982). Malcolm (1985) gave an exhaustive review.   Rogan et al. (1989) described a family in which multiple members developed severe atrioventricular valvular regurgitation and at least 1 also had aortic regurgitation. Myxomatous proliferation in heart valves was demonstrated in all cases. The proband was a 23-year-old asymptomatic soldier who was found to have a systolic murmur on routine physical examination; echocardiography showed a calcified mass in the left ventricular outflow tract. Rogan et al. (1989) suggested the designation 'familial myxomatous valvular disease.' The patient also showed 'soft' connective tissue signs, mild dolichostenomelia (arm span 7 cm greater than height), a highly arched palate, reversal of the usual vertebral column curves, mild pectus excavatum, and marked striae atrophica over his lower back and hips.   James et al. (2003) described a family in which 8 individuals in 4 generations were affected by a dominantly inherited disorder involving MVP, short stature, dolichocephalic face, broad forehead, posteriorly angulated ears, long philtrum, thin upper lip, high arched palate, and small mandible. The proband presented at age 8 years with infective mastoiditis, bacterial endocarditis, and supraventricular tachycardia. One other family member also had infective mastoiditis and bacterial endocarditis, and both the proband's mother and grandmother died suddenly at the ages of 30 and 25 years, respectively. The occurrence of infective mastoiditis in 2 members of this family was thought to be related to abnormal development of the temporal bone, which may have contributed to the distinctive facial appearance of the affected individuals. This family was thought to most closely resemble that reported by Collins et al. (1990): a mother and her 2 daughters had MVP associated with short stature, disproportionately short limbs, and small hands. The growth retardation was more severe than that in the family reported by James et al. (2003), with the 2 adults reported as having heights of 147 and 140 cm. Valvular heart disease included both MVP and pulmonary stenosis.   Digilio et al. (2004) evaluated a mother and daughter with a constellation of anomalies similar to those reported by James et al. (2003) and Collins et al. (1990). The proband was a 14-year-old female with thin body habitus, long face, upslanting palpebral fissures, beaked nose and nasal septum below alae, short philtrum, high-arched palate, and crowded teeth. Height was 140 cm (below third centile). Developmental milestones were mildly retarded and a mild cognitive deficit with learning difficulties was present. Echocardiography showed polyvalvular disease, with quadricuspid aortic valve with mild regurgitation and prolapse of the mitral and tricuspid valves with mild regurgitation. The mother had thin body habitus with marked short stature (height 139 cm; below third centile). She had moderate mental retardation. Echocardiography showed thickening of the aortic valve leaflets without regurgitation or stenosis, and mitral and tricuspid valve prolapse with mild regurgitation. Skeletal x-rays showed no abnormalities. \n",
+        "ann": "341\t368\tmitral regurgitation murmur\tHP:0001653\n522\t536\tabnormal valve\tHP:0001654\n646\t667\tmitral valve prolapse\tHP:0001634\n926\t961\tabnormalities of the left ventricle\tHP:0001711\n1104\t1127\tcoronary artery disease\tHP:0001677\n1129\t1170\tcongestive or hypertrophic cardiomyopathy\tHP:0001644\n1143\t1170\thypertrophic cardiomyopathy\tHP:0001639\n1172\t1192\tatrial septal defect\tHP:0001631\n1481\t1491\tchest pain\tHP:0100749\n1493\t1500\tdyspnea\tHP:0002094\n1502\t1525\tthoracic cage deformity\tHP:0000914\n1732\t1749\tloose-jointedness\tHP:0001388\n2138\t2151\tpanic attacks\tHP:0025269\n2170\t2178\tasthenia\tHP:0025406\n2354\t2384\tautosomal dominant inheritance\tHP:0000006\n2817\t2844\tnarrower A-P chest diameter\tHP:0000774\n3049\t3071\tgenetic heterogeneity\tHP:0001425\n3145\t3171\tcardiovascular abnormality\tHP:0001626\n3261\t3283\tbacterial endocarditis\tHP:0006689\n3288\t3300\tsudden death\tHP:0001699\n3385\t3405\tmitral regurgitation\tHP:0001653\n3640\t3660\tmitral regurgitation\tHP:0001653\n3895\t3915\taortic regurgitation\tHP:0001659\n3945\t3957\theart valves\tHP:0001654\n4064\t4079\tsystolic murmur\tHP:0031666\n4149\t4191\tmass in the left ventricular outflow tract\tHP:0011103\n4260\t4276\tvalvular disease\tHP:0001654\n4335\t4357\tmild dolichostenomelia\tHP:0001519\n4397\t4417\thighly arched palate\tHP:0002705\n4419\t4464\treversal of the usual vertebral column curves\tHP:0010674\n4466\t4487\tmild pectus excavatum\tHP:0000767\n4493\t4516\tmarked striae atrophica\tHP:0001065\n4692\t4705\tshort stature\tHP:0004322\n4729\t4743\tbroad forehead\tHP:0000337\n4745\t4771\tposteriorly angulated ears\tHP:0000358\n4773\t4786\tlong philtrum\tHP:0000343\n4788\t4802\tthin upper lip\tHP:0000219\n4804\t4822\thigh arched palate\tHP:0002705\n4828\t4842\tsmall mandible\tHP:0000347\n4896\t4907\tmastoiditis\tHP:0000265\n4909\t4931\tbacterial endocarditis\tHP:0006689\n4937\t4965\tsupraventricular tachycardia\tHP:0004755\n5010\t5021\tmastoiditis\tHP:0000265\n5026\t5048\tbacterial endocarditis\tHP:0006689\n5253\t5294\tabnormal development of the temporal bone\tHP:0009911\n5330\t5359\tdistinctive facial appearance\tHP:0001999\n5531\t5544\tshort stature\tHP:0004322\n5565\t5576\tshort limbs\tHP:0009826\n5582\t5593\tsmall hands\tHP:0200055\n5599\t5633\tgrowth retardation was more severe\tHP:0008850\n5755\t5777\tValvular heart disease \tHP:0001654\n5800\t5818\tpulmonary stenosis\tHP:0001642\n6028\t6045\tthin body habitus\tHP:0001533\n6047\t6056\tlong face\tHP:0000276\n6058\t6087\tupslanting palpebral fissures\tHP:0000582\n6089\t6100\tbeaked nose\tHP:0000444\n6130\t6144\tshort philtrum\tHP:0000322\n6146\t6164\thigh-arched palate\tHP:0002705\n6170\t6183\tcrowded teeth\tHP:0000678\n6226\t6271\tDevelopmental milestones were mildly retarded\tHP:0001263\n6278\t6300\tmild cognitive deficit\tHP:0001256\n6392\t6417\tquadricuspid aortic valve\tHP:0031655\n6446\t6468\tprolapse of the mitral\tHP:0001634\n6530\t6547\tthin body habitus\tHP:0001533\n6560\t6573\tshort stature\tHP:0004322\n6620\t6647\tmoderate mental retardation\tHP:0002342\n6691\t6712\taortic valve leaflets\tHP:0001647\n6752\t6787\tmitral and tricuspid valve prolapse\tHP:0001634\n6763\t6787\ttricuspid valve prolapse\tHP:0001704"
+    }
+]

hpo_anno.py

@@ -1,8 +1,3 @@
-"""
-Author: yourui
-Date: 2023-07-10
-Copyright (c) 2023 by yourui, Inc. All Rights Reserved. 
-"""
 # Copyright 2020 The HuggingFace Datasets Authors and the current dataset script contributor.
 #
 # Licensed under the Apache License, Version 2.0 (the "License");
@@ -40,7 +35,10 @@ _LICENSE = ""
 _DATA_URL = r"https://huggingface.co/datasets/yourui/hpo_anno/resolve/main/data/"
 
 task_list = [
-    "GeneReviews"
+    "GeneReviews",
+    "GSC+",
+    "ID-68",
+    "val"
 ]
 
 
@@ -82,7 +80,6 @@ class HPOAnno(datasets.GeneratorBasedBuilder):
 
     def _generate_examples(self, filepath):
         logger.info("generating examples from = %s", filepath)
-        key = 0
         with open(filepath, encoding="utf-8") as f:
             obj = json.load(f)
             for item in obj:
@@ -92,5 +89,4 @@ class HPOAnno(datasets.GeneratorBasedBuilder):
                     "corpus":  item["corpus"],
                     "ann": item["ann"]
                 }
-                key += 1